Integumentary System - Abnormalities: Difference between revisions

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{{ICD11weblink}}653663824 '''Structural developmental anomalies of the skin'''] - {{ICD11weblink}}515813788 Developmental hamartomata of the epidermis and epidermal appendages] | {{ICD11weblink}}8171196 Developmental anomalies of skin pigmentation] | {{ICD11weblink}}710405171 KC24 Neonatal nutritional disorders affecting the skin] | {{ICD11weblink}}2052487317 Hamartomata derived from dermal connective tissue] | {{ICD11weblink}}666067582 Skin disorders associated with prematurity] | {{ICD11weblink}}1959919171 Developmental defects of hair or nails] | {{ICD11weblink}}17827485 Developmental anomalies of cutaneous vasculature] | {{ICD11weblink}}2016900188 Congenital anomalies of skin development]
{{ICD11weblink}}680361950 Disorders involving the integument of foetus or newborn] - {{ICD11weblink}}1832196203 KC20 Conditions involving the umbilical cord] | {{ICD11weblink}}2142927078 KC21 Inflammatory dermatoses of the newborn] | {{ICD11weblink}}1808014996 KC22 Neonatal disorders of subcutaneous fat] | {{ICD11weblink}}1475546212 KC23 Neonatal disorders of the oral mucosa]
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==Introduction==
==Introduction==


This page introduces abnormalities associated with the integumentary system and its specializations. Note that each related page will also contain specific information for that component of this system.
This page introduces abnormalities associated with the integumentary system and its specializations. Note that each related page will also contain specific information for that component of this system.
Diseases of the skin incorporate conditions affecting the epidermis, its appendages (hair, hair follicle, sebaceous glands, apocrine sweat gland apparatus, eccrine sweat gland apparatus and nails) and associated mucous membranes (conjunctival, oral and genital), the dermis, the cutaneous vasculature and the subcutaneous tissue (subcutis). (ICD-11)


{{Integumentary Links}}
{{Integumentary Links}}
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* '''Comparison between human fetal and adult skin'''<ref name="PMID19701759"><pubmed>19701759</pubmed></ref>
* '''A novel homozygous deletion in EXPH5 causes a skin fragility phenotype'''{{#pmid:27730671|PMID27730671}} "Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin-5, also known as Slac2-b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR-restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3-year-old girl. No mutations were detected in KRT5 or KRT14, but we identified a novel homozygous deletion in EXPH5, which was found to cosegregate with the disease phenotype in the family."
 
* '''Comparison between human fetal and adult skin'''{{#pmid:19701759|PMID19701759}}
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| [[File:Mark_Hill.jpg|90px|left]] {{Most_Recent_Refs}}
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Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Integumentary+congenital+abnormalities ''Integumentary congenital abnormalities'']
Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Integumentary+congenital+abnormalities ''Integumentary congenital abnormalities''] | [http://www.ncbi.nlm.nih.gov/pubmed/?term=Aplasia+cutis+congenita Aplasia cutis congenita]
|}
 
==Congenital anomalies of skin development==
[[File:Cutis_aplasia.jpg|thumb|Cutis Aplasia <br>(Image: NZ Crown copyright)]]
{{ICD11weblink}}2016900188 Congenital anomalies of skin development]
 
{{ICD11weblink}}350175828 LC60 Aplasia cutis congenita] - ''Congenital absence of skin. The commonest form presents as a defect limited to the scalp. It is also a component of a number of genetic syndromes.''
 
Congenital absence of the skin, particularly on the scalp, larger defects may extend to the dura or meninges. Generally isolated lesions, but can also be associated with a variety of other genetic disorders. Heals as a flat scar or keloid lump.
 
'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Cutis%20Aplasia "Cutis Aplasia"]


<pubmed limit=5>Integumentary congenital abnormalities </pubmed>
==Developmental hamartomata of the epidermis and epidermal appendages==
{|
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! {{ICD-11}}
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| {{ICD11weblink}}515813788 Developmental hamartomata of the epidermis and epidermal appendages] - {{ICD11weblink}}1180662736 LC00 Keratinocytic epidermal hamartoma] | {{ICD11weblink}}59912591 LC01 Pilosebaceous hamartoma] | {{ICD11weblink}}923306251 LC02 Complex epidermal hamartoma]
|}
|}
==International Classification of Diseases==
===LC00 Keratinocytic epidermal hamartoma===
{{ICD11weblink}}1180662736 LC00 Keratinocytic epidermal hamartoma] - ''Keratinocytic epidermal hamartoma or epidermal naevus is a congenital hamartomatous epidermal malformation composed of keratinocytes. It is thought to arise as a result of somatic mutation: early embryonic mutations can give rise to extensive systematised naevi, though typically epidermal naevi are localized linear papillomatous or verrucous plaques. Histologically they exhibit acanthosis, papillomatosis and acanthosis.''
 
===LC01 Pilosebaceous hamartoma===
{{ICD11weblink}}59912591 LC01 Pilosebaceous hamartoma] - ''Hamartomatous malformation involving elements originating from the developing pilosebaceous follicle.''
 
===LC02 Complex epidermal hamartoma===
{{ICD11weblink}}923306251 LC02 Complex epidermal hamartoma] - ''Hamartomatous malformation composed of elements deriving from several components of the developing epidermis and epidermal appendages.''
 
==Developmental anomalies of skin pigmentation==
{|
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! {{ICD-11}}
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| {{ICD11weblink}}8171196 Developmental anomalies of skin pigmentation] - {{ICD11weblink}}1628237102 LC10 Dermal melanocytosis] | {{ICD11weblink}}887489797 2F20.2 Congenital melanocytic naevus]
|}
===LC10 Dermal melanocytosis===
{{ICD11weblink}}1628237102 LC10 Dermal melanocytosis] - ''The presence at birth of functional melanocytes within the dermis. Most commonly this is as a result of incomplete migration of melanocytes to the epidermis as in lumbosacral dermal melanocytosis (Mongolian spot). Less commonly it is due to circumscribed hamartomatous proliferation of melanocytes in the dermis (e.g. Naevus of Ota).''
 
===2F20.2 Congenital melanocytic naevus===
 
{{ICD11weblink}}887489797 2F20.2 Congenital melanocytic naevus] - ''Congenital melanocytic naevi are circumscribed areas of skin pigmentation present at birth as a result of abnormal intrauterine proliferation of melanocytes within the dermis, the epidermis or both. They may range in size from a few millimetres to many centimetres in diameter. If their projected or final adult maximal diameter is greater than 20 cm they are termed giant congenital melanocytic naevi.''
 
==Neonatal nutritional disorders affecting the skin==
 
{{ICD11weblink}}710405171 KC24 Neonatal nutritional disorders affecting the skin]


{{ICD Integumentary (Q80-Q89)}}
{{ICD11weblink}}2075761415 LC20 Connective tissue hamartoma]


==Cutis Aplasia==
==Hamartomata derived from dermal connective tissue==
[[File:Cutis_aplasia.jpg|thumb|Cutis Aplasia <br>(Image: NZ Crown copyright)]]
{{ICD11weblink}}2052487317 Hamartomata derived from dermal connective tissue]
Congenital absence of the skin, particularly on the scalp, larger defects may extend to the dura or meninges. Generally isolated lesions, but can also be associated with a variety of other genetic disorders. Heals as a flat scar or keloid lump.
 
==Skin disorders associated with prematurity==
{{ICD11weblink}}666067582 Skin disorders associated with prematurity]
 
==Developmental defects of hair or nails==
{{ICD11weblink}}1959919171 Developmental defects of hair or nails]
 
{{ICD11weblink}}1444833828 LC30 Developmental defects of hair or hair growth]
 
{{ICD11weblink}}684964464 LC31 Developmental defects of the nail apparatus]
 
==Developmental anomalies of cutaneous vasculature==
{{ICD11weblink}}17827485 Developmental anomalies of cutaneous vasculature]
 
===LC50 Developmental capillary vascular malformations of the skin===
{{ICD11weblink}}727340642 LC50 Developmental capillary vascular malformations of the skin]
 
{{ICD11weblink}}400551861 LC50.0 Salmon patch] - ''A common skin condition of neonates, characterized by flat, deep-pink localized areas of capillary dilation that occur predominantly on the back of the neck, lower occiput, upper eyelids, upper lip, and bridge of the nose. The areas disappear permanently by about 2 years of age.''
 
{{ICD11weblink}}2023437459 LC50.1 Port-wine stain] - ''A port-wine stain is defined as a macular telangiectatic area of skin which is present at birth and does not spontaneously involute. Port-wine stains may be localized or extensive and they are often associated with an underlying disorder.''
 
===LC51 Developmental venous malformations involving the skin===
{{ICD11weblink}}329960238 LC51 Developmental venous malformations involving the skin]
 
===LC52 Complex or combined developmental vascular malformations involving the skin===
{{ICD11weblink}}776465804 LC52 Complex or combined developmental vascular malformations involving the skin]


:[[International_Classification_of_Diseases|'''ICD-10 Code''']]: [[International_Classification_of_Diseases_-_XVII_Congenital_Malformations#Q84_Other_congenital_malformations_of_integument|Q84.8 Other specified congenital malformations of integument Aplasia cutis congenita]]
{{ICD11weblink}}1561120378 LD26.60 Angio-osteohypertrophic syndrome] - ''Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome characterized by the presence of vascular malformations in a limb resulting in limb overgrowth. Depending on whether the malformations are slow flow venous or fast flow arteriovenous the syndrome may be divided into two subtypes, Klippel-Trénaunay and Parkes-Weber syndromes respectively. Some cases of the latter are associated with mutations in the RASA1 gene.''


'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Cutis%20Aplasia "Cutis Aplasia"] (2006 - 33 search results)
==LD28.1 Ehlers-Danlos Syndrome==


== Ehlers-Danlos Syndrome ==
{{ICD11weblink}}1122707206 LD28.1 Ehlers-Danlos syndrome] - ''is a heterogeneous group of inherited disorders of connective tissue, principally collagen, that range in severity from mild joint hypermobility to life-threatening fragility of soft tissue and vasculature.''
The main features of classic Ehlers-Danlos syndrome, which includes EDS I and EDS II, are loose-jointedness and fragile, bruisable skin that heals with peculiar scars. The syndrome is caused by mutation in the collagen gene. Infants are born prematurely due to premature rupture of fetal membranes.  




:[[International_Classification_of_Diseases|'''ICD-10 Code''']]: [[International_Classification_of_Diseases_-_XVII_Congenital_Malformations#Q79_Congenital_malformations_of_the_musculoskeletal_system.2C_not_elsewhere_classified|Q79.6 Ehlers-Danlos syndrome]]
The main features of classic Ehlers-Danlos syndrome (EZDS), which includes EDS I and EDS II, are loose-jointedness and fragile, bruisable skin that heals with peculiar scars. The syndrome is caused by mutation in the collagen gene. Infants are born prematurely due to premature rupture of fetal membranes.  


'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Ehlers-Danlos%20Syndrome "Ehlers-Danlos Syndrome"] (2005 - 77 search results)


'''Links:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Ehlers-Danlos%20Syndrome "Search OMIM"] | [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.eds GeneReviews] | [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.eds4 Ehlers-Danlos Syndrome, Vascular Type] | [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.eds6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form ]


'''GeneReviews''' [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.eds Ehlers-Danlos Syndrome] | [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.eds4 Ehlers-Danlos Syndrome, Vascular Type] | [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.eds6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form ]
==EC30 Epidermolysis Bullosa Simplex==
{{ICD11weblink}}1860717527 EC30 Epidermolysis bullosa simplex]


== Epidermolysis Bullosa Simplex ==
[[File:Epidermolysis bullosa simplex 01.jpg|thumb|File:Epidermolysis bullosa simplex histology{{#pmid:22346287|PMID22346287}}]]
An autosomal dominant disease of keratin, generating skin fagility and non-scarring blisters of the skin caused by little or no trauma.  
An autosomal dominant disease of keratin, generating skin fagility and non-scarring blisters of the skin caused by little or no trauma.  


Four clinical subtypes: 1. EBS - Weber-Cockayne - mild blistering of the hands and feet 2. EBS - Koebner, 3. EBS - mottled pigmentation, 4. EBS - Dowling-Meara - generalized blistering which can be fatal.  
Four clinical subtypes:
 
# EBS - Weber-Cockayne - mild blistering of the hands and feet
:[[International_Classification_of_Diseases|'''ICD-10 Code''']]: [[International_Classification_of_Diseases_-_XVII_Congenital_Malformations#Q81_Epidermolysis_bullosa|Q81.0 Epidermolysis bullosa simplex]]
# EBS - Koebner
# EBS - mottled pigmentation
EBS - Dowling-Meara - generalized blistering which can be fatal.  




'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Epidermolysis%20Bullosa%20Simplex "Epidermolysis Bullosa Simplex"] (2005 - 35 search results)
'''Links:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Epidermolysis%20Bullosa%20Simplex Search OMIM] | [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.ebs GeneReviews]


'''GeneReviews''' [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.ebs Epidermolysis Bullosa Simplex]
==EC20.02 Autosomal Recessive Congenital Ichthyosis ==
{{ICD11weblink}}430849255 EC20.02 Autosomal recessive congenital ichthyosis]


== Autosomal Recessive Congenital Ichthyosis ==
Ichthyosis is an excessive keratinization disorder.  
Ichthyosis is an excessive keratinization disorder.  


'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Congenital%20Ichthyosis "Congenital Ichthyosis"] (2005 - 73 search results)
'''Links:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Congenital%20Ichthyosis Search OMIM] |  [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.li-ar GeneReviews]


'''GeneReviews''' [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.li-ar Autosomal Recessive Congenital Ichthyosis]
Congenital absence of the skin, particularly on the scalp, larger defects may extend to the dura or meninges. Generally isolated lesions, but can also be associated with a variety of other genetic disorders. Heals as a flat scar or keloid lump.  


Congenital absence of the skin, particularly on the scalp, larger defects may extend to the dura or meninges. Generally isolated lesions, but can also be associated with a variety of other genetic disorders. Heals as a flat scar or keloid lump.  
==LD27.00 Incontinentia Pigmenti ==
{{ICD11weblink}}1542530268 LD27.00 Incontinentia pigmenti] - ''Incontinentia pigmenti is an X-linked dominant gene disorder due to abnormalities of the NF-kappa-B (NEMO) gene on chromosome Xq28. It is lethal in male fetuses but the presence of a normal second X chromosome in females results in a mosaicism which is compatible with life. Affected females present in infancy with skin blisters in linear arrays (Blaschko lines) typically on the scalp and limbs. Within the first few months of life these are succeeded by warty changes and hyperpigmentation. These tend to resolve over time, often leaving atrophic streaks. Associated features include abnormal dentition, ocular defects and a variety of neurological complications.''




== Incontinentia Pigmenti ==
"An X-linked dominant disorder with most but not all cases affecting females. The skin changes follow characteristic four stages. In the neonatal period the first stage is noted with blisters often preceded or accompanied by erythema. These involve any part of the body but usually not the face. They do not cross the midline. These lesions are best seen in the second photograph in the groin and suprapubic region. The lesions follow a linear distribution in the limbs and circumferentially around the trunk. Crops of lesions may occur over a period of weeks to few months. During that stage, peripheral eosinophilia may be noted. The second stage follows and is characterised by hyperkeratosis or verrucous changes. At times the 2 stages occur simultaneously as noted in the first and third photograph. The third stage is that of hyperpigmentation typically appearing as streaks or whorls. It may be present throughout childhood. The fourth stage seen in teenage or adults is that of pale or atrophic streaks. In the neonatal period, IP must be differentiated from herpetic lesions, bullous impetigo and epidermolysis bullosa." (Text and Images: NZ Crown copyright)  
"An X-linked dominant disorder with most but not all cases affecting females. The skin changes follow characteristic four stages. In the neonatal period the first stage is noted with blisters often preceded or accompanied by erythema. These involve any part of the body but usually not the face. They do not cross the midline. These lesions are best seen in the second photograph in the groin and suprapubic region. The lesions follow a linear distribution in the limbs and circumferentially around the trunk. Crops of lesions may occur over a period of weeks to few months. During that stage, peripheral eosinophilia may be noted. The second stage follows and is characterised by hyperkeratosis or verrucous changes. At times the 2 stages occur simultaneously as noted in the first and third photograph. The third stage is that of hyperpigmentation typically appearing as streaks or whorls. It may be present throughout childhood. The fourth stage seen in teenage or adults is that of pale or atrophic streaks. In the neonatal period, IP must be differentiated from herpetic lesions, bullous impetigo and epidermolysis bullosa." (Text and Images: NZ Crown copyright)  




:[[International_Classification_of_Diseases|'''ICD-10 Code''']]: [[International_Classification_of_Diseases_-_XVII_Congenital_Malformations#Q81_Epidermolysis_bullosa|Q82.3 Incontinentia pigmenti]]
'''Links:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Incontinentia%20Pigmenti Search OMIM]  


==EC20 Genetic disorders of keratinisation==


{{ICD11weblink}}1223911519 EC20 Genetic disorders of keratinisation]


'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Incontinentia%20Pigmenti "Incontinentia Pigmenti"] (2006 - 26 search results)
{{ICD11weblink}}213831678 EC20.0 Non-syndromic ichthyosis] - {{ICD11weblink}}841161884 EC20.00 Ichthyosis vulgaris]| EC20.01 X-linked ichthyosis | EC20.02 Autosomal recessive congenital ichthyosis | EC20.03 Keratinopathic ichthyoses 


==Harlequin Ichthyosis==
{{ICD11weblink}}841161884 EC20.00 Ichthyosis vulgaris] - ''Ichthyosis vulgaris accounts for 95% of all cases of hereditary ichthyosis. It is an autosomal dominant condition due to filaggrin gene mutations. At birth the skin may appear normal but it gradually becomes dry, rough and scaly, with most signs and symptoms appearing by the age of 5. Ichthyosis vulgaris can affect all parts of the skin surface including the face and scalp though the limb flexures are usually spared. Hyperlinearity of the palms is a characteristic feature. It is closely associated with the development of atopic eczema.''


Severe recessive congenital skin disease where infants develop large, armor-like skin plates separated by deep fissures. Caused by mutations in the gene encoding ATP-Binding Cassette, Subfamily A, member 12 (ABCA12).<ref name="PMID27551807"><pubmed>27551807</pubmed></ref>
{{ICD11weblink}}523640904 EC20.1 Hereditary skin peeling]
 
{{ICD11weblink}}248560941 EC20.2 Hereditary acantholytic dermatoses]
 
{{ICD11weblink}}1941547119 EC20.3 Hereditary palmoplantar keratodermas] - EC20.30 Diffuse palmoplantar keratodermas  | EC20.31 Focal palmoplantar keratodermas  | EC20.32 Papular palmoplantar keratodermas
 
===Harlequin Ichthyosis===
{{ICD11weblink}}430849255 EC20.02 Autosomal recessive congenital ichthyosis] - ''A heterogeneous group of genetically-determined ichthyoses with autosomal recessive inheritance.''
 
Severe recessive congenital skin disease where infants develop large, armor-like skin plates separated by deep fissures. Caused by mutations in the gene encoding ATP-Binding Cassette, Subfamily A, member 12 (ABCA12).{{#pmid:27551807|PMID27551807}}


These skin plates:
These skin plates:
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* cause malformations of the ears, eyelids and lips during development  
* cause malformations of the ears, eyelids and lips during development  


:'''Links:''' [http://www.omim.org/entry/242500 OMIM Harlequin Ichthyosis] [http://www.omim.org/entry/607800 OMIM ABCA12]
:'''Links:''' [http://www.omim.org/entry/242500 OMIM] [http://www.omim.org/entry/607800 OMIM ABCA12]
== Neuroblastoma ==
== Neuroblastoma ==
[[Image:Neuroblastoma.jpg|thumb|Neuroblastoma (Image: NZ Crown copyright)]]
[[Image:Neuroblastoma.jpg|thumb|Neuroblastoma (Image: NZ Crown copyright)]]
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'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Neuroblastoma "Neuroblastoma"] (2006 - 242 search results)
'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Neuroblastoma "Neuroblastoma"]


== Teeth Defects ==
== Teeth Defects ==
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'''enamel hypoplasia''' environmental factors affecting ameloblast formation of enamal on teeth.  
'''enamel hypoplasia''' environmental factors affecting ameloblast formation of enamal on teeth.  


'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=amelogenesis%20imperfecta "amelogenesis imperfecta"] (2005 - 30 search results) | [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=dentinogenesis%20imperfecta "dentinogenesis imperfecta"] (2005 - 29 search results) | [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=enamel%20hypoplasia "enamel hypoplasia"] (2005 - 53 search results) |  
'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=amelogenesis%20imperfecta "amelogenesis imperfecta"] | [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=dentinogenesis%20imperfecta "dentinogenesis imperfecta"] | [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=enamel%20hypoplasia "enamel hypoplasia"] |  


== Mammary Glands ==
== Mammary Glands ==
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There are many different factors that can affect skin colouration, some are genetically related while others are due to diet or pharmacological drug side effects.  
There are many different factors that can affect skin colouration, some are genetically related while others are due to diet or pharmacological drug side effects.  


'''Albinism''' autosomal recessive trait resulting in lack of pigment in skin, hair and retina.  
===EC23.2 Albinism===
{{ICD-11}} {{ICD11weblink}}143807416 EC23.2 Albinism or other specified genetically-determined hypomelanotic disorders] - ''A large group of heritable disorders in which cutaneous melanin production is reduced or absent, mainly as the result of defects in enzymes required for normal melanin biosynthesis.''
 
Albinism is generally an autosomal recessive trait resulting in lack of pigment in skin, hair and retina.  
 
===5B90.1 Hypercarotenaemia===
{{ICD-11}} {{ICD11weblink}}840408238 5B90.1 Hypercarotenaemia] - ''Excessive intake of carotenoids is not associated with toxicity but can cause yellow coloration of the skin that disappears when intake is reduced. This disorder is especially likely to occur in children with liver disease, diabetes mellitus or hypothyroidism, and in those who do not have enzymes that metabolize carotenoids.''


'''Jaundice''' is the yellow color of skin (and mucous membranes) and is not an abnormality of the skin and is often seen in newborn infants. It is due to accumulation of bile pigments in blood and their deposition in body tissues.  
Carotenemia excess carotene intake results from eating large quantities of green and yellow vegetables, tomatoes, or yellow corn.
 
===Jaundice===
Jaundice is the yellow colour of skin and mucous membranes, and is generally not an abnormality of the skin. Often seen in newborn infantsdue to accumulation of bile pigments in the blood and their deposition in body tissues. Note there are other pathological causes of jaundice.


'''Carotenemia''' excess carotene intake results from eating large quantities of green and yellow vegetables, tomatoes, or yellow corn.


'''Quinacrine''' used for treatment of giardiasis, produces a yellow skin color, but the urine remains normal.
'''Quinacrine''' used for treatment of giardiasis, produces a yellow skin color, but the urine remains normal.


'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=albinism "albinism"] (2005 - 73 search results) | [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Jaundice "Jaundice"] (2005 - 121 search results)
'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=albinism "albinism"] | [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Jaundice "Jaundice"]


===Melanoma===
===Melanoma===
Melanocytes (neural crest) normally protect the postnatal skin cells against UV damage. Melanoma develops when melanocytes become malignantly transformed, these cells can then become invasive and spread to other tissues.  
{|
|-bgcolor="FEF9E7"
|
{{ICD-11}} {{ICD11weblink}}488336723 2C30 Melanoma of skin]
:''A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.''
|}


There are several different forms:
[[File:Melanoma chromosome graph.jpg|thumb|Melanoma heritability stratified by chromosome{{#pmid:28973033|PMID28973033}}]]
* Superficial spreading melanoma - most common type of melanoma about 70% of all melanomas.
Melanoma develops postnatally when melanocytes become malignantly transformed, these transformed cells can then become invasive and spread to other tissues. Melanocytes (neural crest) normally protect the postnatal skin cells against ultraviolet radiation (UV) damage. Both UV light and genetics related to skin colour have roles in melanoma susceptibility.  
* Nodular melanoma - about 15% of all melanomas and becomes invasive soon after first appearing.
* Acral-lentiginous melanoma - about 8% of all melanomas and is the most common melanoma in dark-skinned people.
* Lentigo maligna melanoma - about 5% of melanomas.
* Amelanotic melanoma - rare and has an absence of pigmentation.
* Desmoplastic melanoma - rare about 1.7% of all melanomas.




:'''Links:''' [[https://training.seer.cancer.gov/melanoma SEER Training Module]
There are several different melanoma forms:
* Superficial spreading - most common type of melanoma about 70% of all melanomas.
* Nodular - about 15% of all melanomas and becomes invasive soon after first appearing.
* Acral-lentiginous  - about 8% of all melanomas and is the most common melanoma in dark-skinned people.
* Lentigo maligna  - about 5% of melanomas.
* Amelanotic  - rare and has an absence of pigmentation.
* Desmoplastic - rare about 1.7% of all melanomas.
 
 
Melanoma susceptibility is associated with chromosomes {{Chr6}}, {{Chr9}}, {{Chr11}}, {{Chr16}}; and the genes Cyclin-Dependent Kinase Inhibitor 2A ([http://omim.org/entry/600160 CDKN2A]) and  Methylthioadenosine Phosphorylase ([http://omim.org/entry/156540 MTAP]) {{#pmid:28973033|PMID28973033}}
 
* Cyclin-Dependent Kinase Inhibitor 2A {{Chr9}}p21.3 - role in regulating other cell cycle regulating pathways, p53 pathway and the RB1 pathway.
* Methylthioadenosine Phosphorylase {{Chr9}}p21.3 - role in polyamine metabolism and the salvage of the amino acids adenine and methionine.
 
 
 
:'''Links:''' [https://training.seer.cancer.gov/melanoma SEER Training Module] | [http://omim.org/entry/600160 CDKN2A] | [http://omim.org/entry/156540 MTAP]
==References==
==References==


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===Search Pubmed===
===Search Pubmed===


'''Search Pubmed:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Integumentary%20System%20Development Integumentary System Development]
'''Search Pubmed:''' [http://www.ncbi.nlm.nih.gov/pubmed/?term=Integumentary+congenital+abnormalities Integumentary congenital abnormalities] | [http://www.ncbi.nlm.nih.gov/pubmed/?term=Ehlers-Danlos+Syndrome Ehlers-Danlos Syndrome] | [http://www.ncbi.nlm.nih.gov/pubmed/?term=Epidermolysis+Bullosa+Simplex Epidermolysis Bullosa Simplex]  
 
 


Ehlers-Danlos Syndrome


----


{{Abnormality Links}}
{{Abnormality Links}}

Revision as of 14:48, 12 March 2019

Embryology - 28 Mar 2024    Facebook link Pinterest link Twitter link  Expand to Translate  
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 ICD-11

Structural developmental anomalies of the skin - Developmental hamartomata of the epidermis and epidermal appendages | Developmental anomalies of skin pigmentation | KC24 Neonatal nutritional disorders affecting the skin | Hamartomata derived from dermal connective tissue | Skin disorders associated with prematurity | Developmental defects of hair or nails | Developmental anomalies of cutaneous vasculature | Congenital anomalies of skin development

Disorders involving the integument of foetus or newborn - KC20 Conditions involving the umbilical cord | KC21 Inflammatory dermatoses of the newborn | KC22 Neonatal disorders of subcutaneous fat | KC23 Neonatal disorders of the oral mucosa

Introduction

This page introduces abnormalities associated with the integumentary system and its specializations. Note that each related page will also contain specific information for that component of this system.

Diseases of the skin incorporate conditions affecting the epidermis, its appendages (hair, hair follicle, sebaceous glands, apocrine sweat gland apparatus, eccrine sweat gland apparatus and nails) and associated mucous membranes (conjunctival, oral and genital), the dermis, the cutaneous vasculature and the subcutaneous tissue (subcutis). (ICD-11)


Integumentary Links: integumentary | Lecture | hair | tooth | nail | integumentary gland | mammary gland | vernix caseosa | melanocyte | touch | Eyelid | outer ear | Histology | integumentary abnormalities | Category:Integumentary
Hair Links  
Hair Links: Overview | Lanugo | Neonatal | Vellus | Terminal | Hair Follicle | Follicle Phases | Stem Cells | Molecular | Pattern | Puberty | Histology | Hair Colour | Arrector Pili Muscle | Hair Loss | Integumentary
Touch Links  
Touch Links: Touch Receptors | Touch Pathway | Pacinian Corpuscle | Meissner's Corpuscle | Merkel Cell | Sensory Modalities | Neural Crest Development | Neural System Development | Student project | Integumentary | Sensory System
Historic Embryology - Integumentary  
1906 Papillary ridges | 1910 Manual of Human Embryology | 1914 Integumentary | 1923 Head Subcutaneous Plexus | 1921 Text-Book of Embryology | 1924 Developmental Anatomy | 1941 Skin Sensory | Historic Disclaimer
Tinycc  
http://tiny.cc/Integument_Development

Some Recent Findings

  • A novel homozygous deletion in EXPH5 causes a skin fragility phenotype[1] "Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin-5, also known as Slac2-b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR-restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3-year-old girl. No mutations were detected in KRT5 or KRT14, but we identified a novel homozygous deletion in EXPH5, which was found to cosegregate with the disease phenotype in the family."
  • Comparison between human fetal and adult skin[2]
More recent papers  
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.

  • This search now requires a manual link as the original PubMed extension has been disabled.
  • The displayed list of references do not reflect any editorial selection of material based on content or relevance.
  • References also appear on this list based upon the date of the actual page viewing.


References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

More? References | Discussion Page | Journal Searches | 2019 References | 2020 References

Search term: Integumentary congenital abnormalities | Aplasia cutis congenita

Congenital anomalies of skin development

Cutis Aplasia
(Image: NZ Crown copyright)

Congenital anomalies of skin development

LC60 Aplasia cutis congenita - Congenital absence of skin. The commonest form presents as a defect limited to the scalp. It is also a component of a number of genetic syndromes.

Congenital absence of the skin, particularly on the scalp, larger defects may extend to the dura or meninges. Generally isolated lesions, but can also be associated with a variety of other genetic disorders. Heals as a flat scar or keloid lump.

OMIM Database Search: "Cutis Aplasia"

Developmental hamartomata of the epidermis and epidermal appendages

 ICD-11
LC01 Pilosebaceous hamartoma | LC02 Complex epidermal hamartoma

LC00 Keratinocytic epidermal hamartoma

LC00 Keratinocytic epidermal hamartoma - Keratinocytic epidermal hamartoma or epidermal naevus is a congenital hamartomatous epidermal malformation composed of keratinocytes. It is thought to arise as a result of somatic mutation: early embryonic mutations can give rise to extensive systematised naevi, though typically epidermal naevi are localized linear papillomatous or verrucous plaques. Histologically they exhibit acanthosis, papillomatosis and acanthosis.

LC01 Pilosebaceous hamartoma

LC01 Pilosebaceous hamartoma - Hamartomatous malformation involving elements originating from the developing pilosebaceous follicle.

LC02 Complex epidermal hamartoma

LC02 Complex epidermal hamartoma - Hamartomatous malformation composed of elements deriving from several components of the developing epidermis and epidermal appendages.

Developmental anomalies of skin pigmentation

 ICD-11
2F20.2 Congenital melanocytic naevus

LC10 Dermal melanocytosis

LC10 Dermal melanocytosis - The presence at birth of functional melanocytes within the dermis. Most commonly this is as a result of incomplete migration of melanocytes to the epidermis as in lumbosacral dermal melanocytosis (Mongolian spot). Less commonly it is due to circumscribed hamartomatous proliferation of melanocytes in the dermis (e.g. Naevus of Ota).

2F20.2 Congenital melanocytic naevus

2F20.2 Congenital melanocytic naevus - Congenital melanocytic naevi are circumscribed areas of skin pigmentation present at birth as a result of abnormal intrauterine proliferation of melanocytes within the dermis, the epidermis or both. They may range in size from a few millimetres to many centimetres in diameter. If their projected or final adult maximal diameter is greater than 20 cm they are termed giant congenital melanocytic naevi.

Neonatal nutritional disorders affecting the skin

KC24 Neonatal nutritional disorders affecting the skin

LC20 Connective tissue hamartoma

Hamartomata derived from dermal connective tissue

Hamartomata derived from dermal connective tissue

Skin disorders associated with prematurity

Skin disorders associated with prematurity

Developmental defects of hair or nails

Developmental defects of hair or nails

LC30 Developmental defects of hair or hair growth

LC31 Developmental defects of the nail apparatus

Developmental anomalies of cutaneous vasculature

Developmental anomalies of cutaneous vasculature

LC50 Developmental capillary vascular malformations of the skin

LC50 Developmental capillary vascular malformations of the skin

LC50.0 Salmon patch - A common skin condition of neonates, characterized by flat, deep-pink localized areas of capillary dilation that occur predominantly on the back of the neck, lower occiput, upper eyelids, upper lip, and bridge of the nose. The areas disappear permanently by about 2 years of age.

LC50.1 Port-wine stain - A port-wine stain is defined as a macular telangiectatic area of skin which is present at birth and does not spontaneously involute. Port-wine stains may be localized or extensive and they are often associated with an underlying disorder.

LC51 Developmental venous malformations involving the skin

LC51 Developmental venous malformations involving the skin

LC52 Complex or combined developmental vascular malformations involving the skin

LC52 Complex or combined developmental vascular malformations involving the skin

LD26.60 Angio-osteohypertrophic syndrome - Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome characterized by the presence of vascular malformations in a limb resulting in limb overgrowth. Depending on whether the malformations are slow flow venous or fast flow arteriovenous the syndrome may be divided into two subtypes, Klippel-Trénaunay and Parkes-Weber syndromes respectively. Some cases of the latter are associated with mutations in the RASA1 gene.

LD28.1 Ehlers-Danlos Syndrome

LD28.1 Ehlers-Danlos syndrome - is a heterogeneous group of inherited disorders of connective tissue, principally collagen, that range in severity from mild joint hypermobility to life-threatening fragility of soft tissue and vasculature.


The main features of classic Ehlers-Danlos syndrome (EZDS), which includes EDS I and EDS II, are loose-jointedness and fragile, bruisable skin that heals with peculiar scars. The syndrome is caused by mutation in the collagen gene. Infants are born prematurely due to premature rupture of fetal membranes.


Links: "Search OMIM" | GeneReviews | Ehlers-Danlos Syndrome, Vascular Type | Ehlers-Danlos Syndrome, Kyphoscoliotic Form

EC30 Epidermolysis Bullosa Simplex

EC30 Epidermolysis bullosa simplex

File:Epidermolysis bullosa simplex histology[3]

An autosomal dominant disease of keratin, generating skin fagility and non-scarring blisters of the skin caused by little or no trauma.

Four clinical subtypes:

  1. EBS - Weber-Cockayne - mild blistering of the hands and feet
  2. EBS - Koebner
  3. EBS - mottled pigmentation
  4. EBS - Dowling-Meara - generalized blistering which can be fatal.


Links: Search OMIM | GeneReviews

EC20.02 Autosomal Recessive Congenital Ichthyosis

EC20.02 Autosomal recessive congenital ichthyosis

Ichthyosis is an excessive keratinization disorder.

Links: Search OMIM | GeneReviews

Congenital absence of the skin, particularly on the scalp, larger defects may extend to the dura or meninges. Generally isolated lesions, but can also be associated with a variety of other genetic disorders. Heals as a flat scar or keloid lump.

LD27.00 Incontinentia Pigmenti

LD27.00 Incontinentia pigmenti - Incontinentia pigmenti is an X-linked dominant gene disorder due to abnormalities of the NF-kappa-B (NEMO) gene on chromosome Xq28. It is lethal in male fetuses but the presence of a normal second X chromosome in females results in a mosaicism which is compatible with life. Affected females present in infancy with skin blisters in linear arrays (Blaschko lines) typically on the scalp and limbs. Within the first few months of life these are succeeded by warty changes and hyperpigmentation. These tend to resolve over time, often leaving atrophic streaks. Associated features include abnormal dentition, ocular defects and a variety of neurological complications.


"An X-linked dominant disorder with most but not all cases affecting females. The skin changes follow characteristic four stages. In the neonatal period the first stage is noted with blisters often preceded or accompanied by erythema. These involve any part of the body but usually not the face. They do not cross the midline. These lesions are best seen in the second photograph in the groin and suprapubic region. The lesions follow a linear distribution in the limbs and circumferentially around the trunk. Crops of lesions may occur over a period of weeks to few months. During that stage, peripheral eosinophilia may be noted. The second stage follows and is characterised by hyperkeratosis or verrucous changes. At times the 2 stages occur simultaneously as noted in the first and third photograph. The third stage is that of hyperpigmentation typically appearing as streaks or whorls. It may be present throughout childhood. The fourth stage seen in teenage or adults is that of pale or atrophic streaks. In the neonatal period, IP must be differentiated from herpetic lesions, bullous impetigo and epidermolysis bullosa." (Text and Images: NZ Crown copyright)


Links: Search OMIM

EC20 Genetic disorders of keratinisation

EC20 Genetic disorders of keratinisation

EC20.0 Non-syndromic ichthyosis - EC20.00 Ichthyosis vulgaris| EC20.01 X-linked ichthyosis | EC20.02 Autosomal recessive congenital ichthyosis | EC20.03 Keratinopathic ichthyoses

EC20.00 Ichthyosis vulgaris - Ichthyosis vulgaris accounts for 95% of all cases of hereditary ichthyosis. It is an autosomal dominant condition due to filaggrin gene mutations. At birth the skin may appear normal but it gradually becomes dry, rough and scaly, with most signs and symptoms appearing by the age of 5. Ichthyosis vulgaris can affect all parts of the skin surface including the face and scalp though the limb flexures are usually spared. Hyperlinearity of the palms is a characteristic feature. It is closely associated with the development of atopic eczema.

EC20.1 Hereditary skin peeling

EC20.2 Hereditary acantholytic dermatoses

EC20.3 Hereditary palmoplantar keratodermas - EC20.30 Diffuse palmoplantar keratodermas | EC20.31 Focal palmoplantar keratodermas | EC20.32 Papular palmoplantar keratodermas

Harlequin Ichthyosis

EC20.02 Autosomal recessive congenital ichthyosis - A heterogeneous group of genetically-determined ichthyoses with autosomal recessive inheritance.

Severe recessive congenital skin disease where infants develop large, armor-like skin plates separated by deep fissures. Caused by mutations in the gene encoding ATP-Binding Cassette, Subfamily A, member 12 (ABCA12).[4]

These skin plates:

  • do not function as permeability barrier, leading to both water and heat loss
  • constrict body movements
  • cause malformations of the ears, eyelids and lips during development
Links: OMIM OMIM ABCA12

Neuroblastoma

Neuroblastoma (Image: NZ Crown copyright)
Links: Neuroblastoma | Neural Crest System - Abnormalities


OMIM Database Search: "Neuroblastoma"

Teeth Defects

amelogenesis imperfecta hypocalcification leads to soft enamal on teeth. Yellow dentine is visible through the thin layer of enamal.

dentinogenesis imperfecta odontoblasts fail to differentiate. Enamal of teeth wears excessively.

enamel hypoplasia environmental factors affecting ameloblast formation of enamal on teeth.

OMIM Database Search: "amelogenesis imperfecta" | "dentinogenesis imperfecta" | "enamel hypoplasia" |

Mammary Glands

Gynecomastia is stimulation by maternal sex hormones leads to excessive development of newborn male mammary glands. There are several possible causes of this excess estrogen in boys which also causes musculoskeletal abnormalities (premature growth spurt, early fusion of epiphyses, and decreased adult height).

OMIM Database Search: "Gynecomastia" (2005 - 44 search results)

Breast Cancer

In 1994, two breast cancer susceptibility genes were identified

  • BRCA1 on chromosome 17
  • BRCA2 on chromosome 13

When an individual carries a mutation in either BRCA1 or BRCA2, they are at an increased risk of being diagnosed with breast or ovarian cancer at some point in their lives. Normal function of these genes was to participate in repairing radiation-induced breaks in double-stranded DNA. It is though that mutations in BRCA1 or BRCA2 might disable this mechanism, leading to more errors in DNA replication and ultimately to cancerous growth.

Breast Cancer Detection reduce mortality is through early detection (general screening of the population for BRCA1 and BRCA2 is not yet recommended). New strategies to find anti-cancer drugs are constantly being developed. The latest, called 'synthetic lethal screening' looks for new drug targets in organisms such as yeast and fruit flies. In the same way that studies in yeast recently helped to identify the functions of BRCA1 and BRCA2, it is thought that drugs that work in more primative organisms will also be applicable to humans.


BreastScreen Australia monitoring report 2011-2012 - 1 Oct 2014 [5]

The BreastScreen Australia monitoring report 2011-2012 presents the latest national statistics on this national screening program, which aims to reduce illness and death resulting from breast cancer through organised screening to detect cases of unsuspected breast cancer in women, thus enabling early intervention.

  • Around 55% of women in the target age group of 50-69 took part in the program, with more than 1.7 million women screening in 2011-2012.
  • Breast cancer mortality is at an historic low, at 44 deaths per 100,000 women.


Vascular Abnormalities

Angiomas are vascular disorder resulting in excessive skin vascularisation.

OMIM Database Search: "Angioma" (2005 - 23 search results)

Skin Colour Abnormalities

There are many different factors that can affect skin colouration, some are genetically related while others are due to diet or pharmacological drug side effects.

EC23.2 Albinism

 ICD-11 EC23.2 Albinism or other specified genetically-determined hypomelanotic disorders - A large group of heritable disorders in which cutaneous melanin production is reduced or absent, mainly as the result of defects in enzymes required for normal melanin biosynthesis.

Albinism is generally an autosomal recessive trait resulting in lack of pigment in skin, hair and retina.

5B90.1 Hypercarotenaemia

 ICD-11 5B90.1 Hypercarotenaemia - Excessive intake of carotenoids is not associated with toxicity but can cause yellow coloration of the skin that disappears when intake is reduced. This disorder is especially likely to occur in children with liver disease, diabetes mellitus or hypothyroidism, and in those who do not have enzymes that metabolize carotenoids.

Carotenemia excess carotene intake results from eating large quantities of green and yellow vegetables, tomatoes, or yellow corn.

Jaundice

Jaundice is the yellow colour of skin and mucous membranes, and is generally not an abnormality of the skin. Often seen in newborn infants, due to accumulation of bile pigments in the blood and their deposition in body tissues. Note there are other pathological causes of jaundice.


Quinacrine used for treatment of giardiasis, produces a yellow skin color, but the urine remains normal.

OMIM Database Search: "albinism" | "Jaundice"

Melanoma

 ICD-11 2C30 Melanoma of skin

A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.
Melanoma heritability stratified by chromosome[6]

Melanoma develops postnatally when melanocytes become malignantly transformed, these transformed cells can then become invasive and spread to other tissues. Melanocytes (neural crest) normally protect the postnatal skin cells against ultraviolet radiation (UV) damage. Both UV light and genetics related to skin colour have roles in melanoma susceptibility.


There are several different melanoma forms:

  • Superficial spreading - most common type of melanoma about 70% of all melanomas.
  • Nodular - about 15% of all melanomas and becomes invasive soon after first appearing.
  • Acral-lentiginous - about 8% of all melanomas and is the most common melanoma in dark-skinned people.
  • Lentigo maligna - about 5% of melanomas.
  • Amelanotic - rare and has an absence of pigmentation.
  • Desmoplastic - rare about 1.7% of all melanomas.


Melanoma susceptibility is associated with chromosomes 6, 9, 11, 16; and the genes Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A) and Methylthioadenosine Phosphorylase (MTAP) [6]

  • Cyclin-Dependent Kinase Inhibitor 2A 9p21.3 - role in regulating other cell cycle regulating pathways, p53 pathway and the RB1 pathway.
  • Methylthioadenosine Phosphorylase 9p21.3 - role in polyamine metabolism and the salvage of the amino acids adenine and methionine.


Links: SEER Training Module | CDKN2A | MTAP

References

  1. Malchin N, Sarig O, Grafi-Cohen M, Geller S, Goldberg I, Shani A, Gat A, Sprecher E & Mashiah J. (2016). A novel homozygous deletion in EXPH5 causes a skin fragility phenotype. Clin. Exp. Dermatol. , 41, 915-918. PMID: 27730671 DOI.
  2. Coolen NA, Schouten KC, Middelkoop E & Ulrich MM. (2010). Comparison between human fetal and adult skin. Arch. Dermatol. Res. , 302, 47-55. PMID: 19701759 DOI.
  3. Shin KC, Park BY, Kim HK, Kim WS & Bae TH. (2011). The use of cultured allogenic keratinocyte grafting in a patient with epidermolysis bullosa simplex. Ann Dermatol , 23, S393-7. PMID: 22346287 DOI.
  4. Zhang L, Ferreyros M, Feng W, Hupe M, Crumrine DA, Chen J, Elias PM, Holleran WM, Niswander L, Hohl D, Williams T, Torchia EC & Roop DR. (2016). Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. PLoS ONE , 11, e0161465. PMID: 27551807 DOI.
  5. AIHW 2014. BreastScreen Australia monitoring report 2011-2012. Cancer series no. 86. Cat. no. CAN 83. Canberra: AIHW. http://www.aihw.gov.au/publication-detail/?id=60129548886
  6. 6.0 6.1 Hulur I, Skol AD, Gamazon ER, Cox NJ & Onel K. (2017). Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma. PLoS ONE , 12, e0185730. PMID: 28973033 DOI.

Reviews

Articles

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Search Pubmed: Integumentary congenital abnormalities | Ehlers-Danlos Syndrome | Epidermolysis Bullosa Simplex



Abnormality Links: abnormal development | abnormal genetic | abnormal environmental | Unknown | teratogens | ectopic pregnancy | cardiovascular abnormalities | coelom abnormalities | endocrine abnormalities | gastrointestinal abnormalities | genital abnormalities | head abnormalities | integumentary abnormalities | musculoskeletal abnormalities | limb abnormalities | neural abnormalities | neural crest abnormalities | placenta abnormalities | renal abnormalities | respiratory abnormalities | hearing abnormalities | vision abnormalities | twinning | Developmental Origins of Health and Disease |  ICD-11
Historic Embryology  
1915 Congenital Cardiac Disease | 1917 Frequency of Anomalies in Human Embryos | 1920 Hydatiform Degeneration Tubal Pregnancy | 1921 Anencephalic Embryo | 1921 Rat and Man | 1966 Congenital Malformations


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Cite this page: Hill, M.A. (2024, March 28) Embryology Integumentary System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Integumentary_System_-_Abnormalities

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G