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== Introduction ==
==ICD 11==
This page lists a few of the abnormalities associated with the Integumentary system. As there are many different specicializations associated with this system and therefore many very specific defects, only a few are included here.
Inclusions
* Diseases of the epidermis
* Diseases of the dermis
* Diseases of the epidermal appendages (hair, hair follicle, sebaceous glands, apocrine sweat gland apparatus, eccrine sweat gland apparatus and nails)
* Diseases of subcutaneous tissue
* Diseases of cutaneous vasculature


For a more detailed list of Integumentary Defects search the [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM] or [http://www.ncbi.nlm.nih.gov/PubMed/medline.html PubMed] Databases.
Certain infections and infestations affecting the skin 
Inflammatory dermatoses 
Metabolic and nutritional disorders affecting the skin 
Genetic, chromosomal or developmental disorders affecting the skin 


'''Page Links:''' [#Introduction Introduction] | [#abnormal Integumentary Defects] | [#Ehlers-Danlos Ehlers-Danlos Syndrome] | [#EBS Epidermolysis Bullosa Simplex] | [#Cutis_Aplasia Cutis Aplasia] | [#Incontinentia_Pigmenti Incontinentia Pigmenti] | [#CongenitalIchthyosis Autosomal Recessive Congenital Ichthyosis] | [#Teeth Teeth Defects] | [#mammary Mammary Glands] | [#breastcancer Breast Cancer] | [#vascular Vascular Abnormalities] | [#SkinColour Skin Colour Abnormalities] | [#jaundice Jaundice] | [#Glossary Glossary] |
* Genetic syndromes affecting the skin 
* Genetic disorders of keratinization 
Genetic defects of hair or hair growth 
Genetic defects of nails or nail growth 
Genetic disorders of skin pigmentation 
Genetically-determined epidermolysis bullosa 
Genetic disorders affecting dermal collagen, elastin or other matrix proteins 
Genetic hamartoneoplastic syndromes affecting the skin 
Genetic disorders of adipose tissue or lipid metabolism affecting the skin 
Miscellaneous genetically-determined metabolic syndromes with skin involvement 
Congenital anomalies of skin development 
Developmental hamartomata of the epidermis or appendages 
Developmental anomalies of skin pigmentation 
Hamartomata derived from dermal connective tissue 
Developmental defects of hair or nails 
Developmental anomalies of cutaneous vasculature 
Specified developmental anomalies affecting the skin 


== Ehlers-Danlos Syndrome ==
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.


'''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)


'''References:'''


'''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 ]


== Epidermolysis Bullosa Simplex ==
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.
Psychological, psychiatric, sensory and neurological disorders affecting the skin 
Disorders of the epidermis and epidermal appendages 
Disorders of the dermis and subcutis 
Disorders of cutaneous blood and lymphatic vessels 
Dermatoses of the head, neck and oral cavity 
Dermatoses of genital and perianal regions 
Dermatoses of pregnancy and of the newborn or infant 
Adverse cutaneous reactions to medication 
Skin disorders provoked by external factors 
Benign proliferations, neoplasms and cysts of the skin 
Disorders of the skin of uncertain or unpredictable malignant potential 
Malignant neoplasms involving the skin 
Cutaneous markers of internal disorders 
Postprocedural disorders of the skin 
Symptoms, signs or clinical findings involving the skin 
EP3Y Other specified diseases of the skin 
EP3Z Skin disease of unspecified nature


'''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)  
==ICD 10 - Other congenital malformations (Q80-Q89)==


'''References:'''  
:'''Links:''' [[Integumentary_System_-_Abnormalities|Integumentary Abnormalities]]


'''GeneReviews''' [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.ebs Epidermolysis Bullosa Simplex]
===Q80 Congenital ichthyosis===
Excl.: Refsum's disease (G60.1)
* Q80.0 Ichthyosis vulgaris
* Q80.1 X-linked ichthyosis
* Q80.2 Lamellar ichthyosis Collodion baby
* Q80.3 Congenital bullous ichthyosiform erythroderma
* Q80.4 Harlequin fetus
* Q80.8 Other congenital ichthyosis
* Q80.9 Congenital ichthyosis, unspecified


== Autosomal Recessive Congenital Ichthyosis ==
===Q81 Epidermolysis bullosa===
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)  
* Q81.0 Epidermolysis bullosa simplex Excl.: Cockayne's syndrome (Q87.1)
* Q81.1 Epidermolysis bullosa letalis Herlitz' syndrome
* Q81.2 Epidermolysis bullosa dystrophica
* Q81.8 Other epidermolysis bullosa
* Q81.9 Epidermolysis bullosa, unspecified
* Q82 Other congenital malformations of skin Excl.: acrodermatitis enteropathica (E83.2) congenital erythropoietic porphyria (E80.0) pilonidal cyst or sinus (L05.-) Sturge-Weber(-Dimitri) syndrome (Q85.8)
* Q82.0 Hereditary lymphoedema
* Q82.1 Xeroderma pigmentosum
* Q82.2 Mastocytosis Urticaria pigmentosa Excl.: malignant mastocytosis (C96.2)
* Q82.3 Incontinentia pigmenti
* Q82.4 Ectodermal dysplasia (anhidrotic) Excl.: Ellis-van Creveld syndrome (Q77.6)
* Q82.5 Congenital non-neoplastic naevus Birthmark NOS Naevus: flammeus portwine sanguineous strawberry vascular NOS verrucous Excl.: café au lait spots (L81.3) lentigo (L81.4) naevus: NOS (D22.-) araneus (I78.1) melanocytic (D22.-) pigmented (D22.-) spider (I78.1) stellar (I78.1)
* Q82.8 Other specified congenital malformations of skin Abnormal palmar creases Accessory skin tags Benign familial pemphigus [Hailey-Hailey] Cutis laxa (hyperelastica) Dermatoglyphic anomalies Inherited keratosis palmaris et plantaris Keratosis follicularis [Darier-White] Excl.: Ehlers-Danlos syndrome (Q79.6)
* Q82.9 Congenital malformation of skin, unspecified


'''References:'''
===Q83 Congenital malformations of breast===


'''GeneReviews''' [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.li-ar Autosomal Recessive Congenital Ichthyosis]
Excl.: absence of pectoral muscle (Q79.8)
* Q83.0 Congenital absence of breast with absent nipple
* Q83.1 Accessory breast Supernumerary breast
* Q83.2 Absent nipple
* Q83.3 Accessory nipple Supernumerary nipple
* Q83.8 Other congenital malformations of breast Hypoplasia of breast
* Q83.9 Congenital malformation of breast, unspecified


== Cutis Aplasia ==
===Q84 Other congenital malformations of integument===
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.


[[Image:CutisAplasia.jpg]]
* Q84.0 Congenital alopecia Congenital atrichosis
* Q84.1 Congenital morphological disturbances of hair, not elsewhere classified Beaded hair Monilethrix Pili annulati Excl.: Menkes' kinky hair syndrome (E83.0)
* Q84.2 Other congenital malformations of hair Congenital: hypertrichosis malformation of hair NOS Persistent lanugo
* Q84.3 Anonychia Excl.: nail patella syndrome (Q87.2)
* Q84.4 Congenital leukonychia
* Q84.5 Enlarged and hypertrophic nails Congenital onychauxis Pachyonychia
* Q84.6 Other congenital malformations of nails Congenital: clubnail koilonychia malformation of nail NOS
* Q84.8 Other specified congenital malformations of integument Aplasia cutis congenita
* Q84.9 Congenital malformation of integument, unspecified Congenital: anomaly NOS deformity NOS of integument NOS


Cutis Aplasia (Image: NZ Crown copyright)
===Q85 Phakomatoses, not elsewhere classified===


[[Image:CutisAplasiaKeloid.jpg]]
Excl.: ataxia telangiectasia [Louis-Bar] (G11.3) familial dysautonomia [Riley-Day] (G90.1)
* Q85.0 Neurofibromatosis (nonmalignant) Von Recklinghausen's disease
* Q85.1 Tuberous sclerosis Bourneville's disease Epiloia
* Q85.8 Other phakomatoses, not elsewhere classified Syndrome: Peutz-Jeghers Sturge-Weber(-Dimitri) von Hippel-Lindau Excl.: Meckel-Gruber syndrome (Q61.9)
* Q85.9 Phakomatosis, unspecified Hamartosis NOS


Cutis Aplasia Keloid (Image: NZ Crown copyright)


'''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)
[https://www.fmhs.auckland.ac.nz/en/som/about/clinical-schools/waikato/staff-contact-details/honorary-staff.html Dr Amanda Oakley]


'''References:'''
==2016==
===A novel homozygous deletion in EXPH5 causes a skin fragility phenotype===


== Incontinentia Pigmenti ==
Clin Exp Dermatol. 2016 Dec;41(8):915-918. doi: 10.1111/ced.12908. Epub 2016 Oct 11.
"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)


'''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)
Malchin N1, Sarig O1, Grafi-Cohen M1, Geller S1, Goldberg I1,2, Shani A3, Gat A4,2, Sprecher E1,5,2, Mashiah J1,5.


'''References:'''
Abstract


== Neuroblastoma ==
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. Our results further expand the spectrum of mutations in EXPH5. Appraisal of the present case against previously reported patients indicate that EXPH5 mutations result in a distinctive skin fragility phenotype, with minimal blistering compared with other forms of basal EBS.
(More? [../ncrest2.htm Neural Crest - Abnormalities])


'''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)
© 2016 British Association of Dermatologists.


'''References:'''
PMID 27730671


== Teeth Defects ==
===Digenic Inheritance in Epidermolysis Bullosa Simplex involving two novel mutations in KRT5 and KRT14===
'''amelogenesis imperfecta''' hypocalcification leads to soft enamal on teeth. Yellow dentine is visible through the thin layer of enamal.  
Br J Dermatol. 2016 Sep 9. doi: 10.1111/bjd.15053.


'''dentinogenesis imperfecta''' odontoblasts fail to differentiate. Enamal of teeth wears excessively.  
Kim E1,2, Harris A1,2, Hyland V3, Murrell D4,5.
Author information
Abstract
Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1 . Keratin 5 and 14 dimerise to form intermediate filaments, which provide structure, strength and flexibility to the keratinocyte cytoskeleton. This article is protected by copyright. All rights reserved.


'''enamel hypoplasia''' environmental factors affecting ameloblast formation of enamal on teeth.  
This article is protected by copyright. All rights reserved.


'''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) |
PMID 27611893


== Mammary Glands ==
===The Frequency of Signs of Meibomian Gland Dysfunction in Children with Epidermolysis Bullosa===
'''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: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Gynecomastia "Gynecomastia"] (2005 - 44 search results)
Ophthalmology. 2016 May;123(5):991-9. doi: 10.1016/j.ophtha.2015.12.040. Epub 2016 Feb 12.


'''Breast Cancer'''
Jones SM1, Smith KA2, Jain M2, Mellerio JE3, Martinez A3, Nischal KK4.
Author information
Abstract
PURPOSE:
To determine the frequency of meibomian gland dysfunction (MGD) in children with epidermolysis bullosa (EB).


In 1994, two breast cancer susceptibility genes were identified
DESIGN:
Hospital-based cross-sectional study.


* BRCA1 on chromosome 17
PARTICIPANTS:
* BRCA2 on chromosome 13
One hundred five children with different forms of EB.


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.  
METHODS:
Prospective ophthalmic examination of children with EB presenting over seventeen months including meibomian gland assessment using a recognized classification.


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.  
MAIN OUTCOME MEASURES:
Frequency of MGD.


== Vascular Abnormalities ==
RESULTS:
'''Angiomas''' are vascular disorder resulting in excessive skin vascularisation.  
One hundred five children were recruited, 8.6% with junctional EB, 34.3% with simplex EB, 34.3% with autosomal recessive dystrophic EB, and 22.9% autosomal dominant dystrophic EB. Mean age was 7.42 years (range, 0.08-17.75 years). Ninety-two children (87.62%) demonstrated 1 or more features of MGD.


'''OMIM''' Database Search: [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=angioma "Angioma"] (2005 - 23 search results)
CONCLUSIONS:
Most children with EB exhibit signs of MGD. To the best of our knowledge, this is the first prospective ocular surface evaluation in children with EB to include lid margin evaluation using a recognized classification system. Our findings help explain some of the ocular surface anomalies seen in children with EB.


== Skin Colour Abnormalities ==
Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
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.
PMID 26876697


'''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.  
==2010==
===Incomplete development of the nail of the hallux in the newborn===
Dermatol Online J. 2010 Jun 15;16(6):1.


'''Carotenemia''' excess carotene intake results from eating large quantities of green and yellow vegetables, tomatoes, or yellow corn.  
Milano A, Cutrone M, Laforgia N, Bonifazi E.


'''Quinacrine''' used for treatment of giardiasis, produces a yellow skin color, but the urine remains normal.
Unit of Paediatric Dermatology, University of Bari, Bari, Italy.
Abstract
Between March and October 2008, the nails of 541 (252 females, 289 males) consecutively born neonates with an average age of 3.2 days were examined in the Neonatology Unit. Of these newborns with nail disorders, 36 were re-examined after a period that ranged from seven days to six months. The most frequent nail alteration was the incomplete development of the hallux nail, which was triangular - sometimes trapezoidal - shaped. This alteration, which had been previously reported in the literature as congenital hypertrophy of the lateral folds of the hallux, spontaneously regressed within one to three months in the infants re-examined. There was no associated inflammation or onychocryptosis at any time. The apparent hypertrophy of the nail folds seemed to be secondary to the lack of pressure of the nail lamina.


'''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)
PMID 20579456
 
http://dermatology.cdlib.org/1606/1_originals/1_10-00107/bonifazi.html
 
Dermatology Online Journal was created in an effort to explore the educational potential of distributed hypermedia served via the World Wide Web. The journal is attempting to serve the dual role of providing relevant information and improving the way scholarly content is shared. Dermatology Online Journal © The Regents of the University of California, Davis campus. Individual articles © by their authors. All material is available under the Creative Commons BY-NC-ND license.  
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License
 
===Atopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skin===
Dumortier A, Durham AD, Di Piazza M, Vauclair S, Koch U, Ferrand G, Ferrero I, Demehri S, Song LL, Farr AG, Leonard WJ, Kopan R, Miele L, Hohl D, Finke D, Radtke F.
PLoS One. 2010 Feb 18;5(2):e9258.
PMID 20174635
 
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0009258

Latest revision as of 16:59, 15 August 2017

ICD 11

Inclusions

  • Diseases of the epidermis
  • Diseases of the dermis
  • Diseases of the epidermal appendages (hair, hair follicle, sebaceous glands, apocrine sweat gland apparatus, eccrine sweat gland apparatus and nails)
  • Diseases of subcutaneous tissue
  • Diseases of cutaneous vasculature

Certain infections and infestations affecting the skin

Inflammatory dermatoses

Metabolic and nutritional disorders affecting the skin

Genetic, chromosomal or developmental disorders affecting the skin

  • Genetic syndromes affecting the skin
  • Genetic disorders of keratinization

Genetic defects of hair or hair growth

Genetic defects of nails or nail growth

Genetic disorders of skin pigmentation

Genetically-determined epidermolysis bullosa

Genetic disorders affecting dermal collagen, elastin or other matrix proteins

Genetic hamartoneoplastic syndromes affecting the skin

Genetic disorders of adipose tissue or lipid metabolism affecting the skin

Miscellaneous genetically-determined metabolic syndromes with skin involvement

Congenital anomalies of skin development

Developmental hamartomata of the epidermis or appendages

Developmental anomalies of skin pigmentation

Hamartomata derived from dermal connective tissue

Developmental defects of hair or nails

Developmental anomalies of cutaneous vasculature

Specified developmental anomalies affecting the skin




Psychological, psychiatric, sensory and neurological disorders affecting the skin

Disorders of the epidermis and epidermal appendages

Disorders of the dermis and subcutis

Disorders of cutaneous blood and lymphatic vessels

Dermatoses of the head, neck and oral cavity

Dermatoses of genital and perianal regions

Dermatoses of pregnancy and of the newborn or infant

Adverse cutaneous reactions to medication

Skin disorders provoked by external factors

Benign proliferations, neoplasms and cysts of the skin

Disorders of the skin of uncertain or unpredictable malignant potential

Malignant neoplasms involving the skin

Cutaneous markers of internal disorders

Postprocedural disorders of the skin

Symptoms, signs or clinical findings involving the skin

EP3Y Other specified diseases of the skin

EP3Z Skin disease of unspecified nature

ICD 10 - Other congenital malformations (Q80-Q89)

Links: Integumentary Abnormalities

Q80 Congenital ichthyosis

Excl.: Refsum's disease (G60.1)

  • Q80.0 Ichthyosis vulgaris
  • Q80.1 X-linked ichthyosis
  • Q80.2 Lamellar ichthyosis Collodion baby
  • Q80.3 Congenital bullous ichthyosiform erythroderma
  • Q80.4 Harlequin fetus
  • Q80.8 Other congenital ichthyosis
  • Q80.9 Congenital ichthyosis, unspecified

Q81 Epidermolysis bullosa

  • Q81.0 Epidermolysis bullosa simplex Excl.: Cockayne's syndrome (Q87.1)
  • Q81.1 Epidermolysis bullosa letalis Herlitz' syndrome
  • Q81.2 Epidermolysis bullosa dystrophica
  • Q81.8 Other epidermolysis bullosa
  • Q81.9 Epidermolysis bullosa, unspecified
  • Q82 Other congenital malformations of skin Excl.: acrodermatitis enteropathica (E83.2) congenital erythropoietic porphyria (E80.0) pilonidal cyst or sinus (L05.-) Sturge-Weber(-Dimitri) syndrome (Q85.8)
  • Q82.0 Hereditary lymphoedema
  • Q82.1 Xeroderma pigmentosum
  • Q82.2 Mastocytosis Urticaria pigmentosa Excl.: malignant mastocytosis (C96.2)
  • Q82.3 Incontinentia pigmenti
  • Q82.4 Ectodermal dysplasia (anhidrotic) Excl.: Ellis-van Creveld syndrome (Q77.6)
  • Q82.5 Congenital non-neoplastic naevus Birthmark NOS Naevus: flammeus portwine sanguineous strawberry vascular NOS verrucous Excl.: café au lait spots (L81.3) lentigo (L81.4) naevus: NOS (D22.-) araneus (I78.1) melanocytic (D22.-) pigmented (D22.-) spider (I78.1) stellar (I78.1)
  • Q82.8 Other specified congenital malformations of skin Abnormal palmar creases Accessory skin tags Benign familial pemphigus [Hailey-Hailey] Cutis laxa (hyperelastica) Dermatoglyphic anomalies Inherited keratosis palmaris et plantaris Keratosis follicularis [Darier-White] Excl.: Ehlers-Danlos syndrome (Q79.6)
  • Q82.9 Congenital malformation of skin, unspecified

Q83 Congenital malformations of breast

Excl.: absence of pectoral muscle (Q79.8)

  • Q83.0 Congenital absence of breast with absent nipple
  • Q83.1 Accessory breast Supernumerary breast
  • Q83.2 Absent nipple
  • Q83.3 Accessory nipple Supernumerary nipple
  • Q83.8 Other congenital malformations of breast Hypoplasia of breast
  • Q83.9 Congenital malformation of breast, unspecified

Q84 Other congenital malformations of integument

  • Q84.0 Congenital alopecia Congenital atrichosis
  • Q84.1 Congenital morphological disturbances of hair, not elsewhere classified Beaded hair Monilethrix Pili annulati Excl.: Menkes' kinky hair syndrome (E83.0)
  • Q84.2 Other congenital malformations of hair Congenital: hypertrichosis malformation of hair NOS Persistent lanugo
  • Q84.3 Anonychia Excl.: nail patella syndrome (Q87.2)
  • Q84.4 Congenital leukonychia
  • Q84.5 Enlarged and hypertrophic nails Congenital onychauxis Pachyonychia
  • Q84.6 Other congenital malformations of nails Congenital: clubnail koilonychia malformation of nail NOS
  • Q84.8 Other specified congenital malformations of integument Aplasia cutis congenita
  • Q84.9 Congenital malformation of integument, unspecified Congenital: anomaly NOS deformity NOS of integument NOS

Q85 Phakomatoses, not elsewhere classified

Excl.: ataxia telangiectasia [Louis-Bar] (G11.3) familial dysautonomia [Riley-Day] (G90.1)

  • Q85.0 Neurofibromatosis (nonmalignant) Von Recklinghausen's disease
  • Q85.1 Tuberous sclerosis Bourneville's disease Epiloia
  • Q85.8 Other phakomatoses, not elsewhere classified Syndrome: Peutz-Jeghers Sturge-Weber(-Dimitri) von Hippel-Lindau Excl.: Meckel-Gruber syndrome (Q61.9)
  • Q85.9 Phakomatosis, unspecified Hamartosis NOS


Dr Amanda Oakley

2016

A novel homozygous deletion in EXPH5 causes a skin fragility phenotype

Clin Exp Dermatol. 2016 Dec;41(8):915-918. doi: 10.1111/ced.12908. Epub 2016 Oct 11.

Malchin N1, Sarig O1, Grafi-Cohen M1, Geller S1, Goldberg I1,2, Shani A3, Gat A4,2, Sprecher E1,5,2, Mashiah J1,5.

Abstract

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. Our results further expand the spectrum of mutations in EXPH5. Appraisal of the present case against previously reported patients indicate that EXPH5 mutations result in a distinctive skin fragility phenotype, with minimal blistering compared with other forms of basal EBS.

© 2016 British Association of Dermatologists.

PMID 27730671

Digenic Inheritance in Epidermolysis Bullosa Simplex involving two novel mutations in KRT5 and KRT14

Br J Dermatol. 2016 Sep 9. doi: 10.1111/bjd.15053.

Kim E1,2, Harris A1,2, Hyland V3, Murrell D4,5. Author information Abstract Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1 . Keratin 5 and 14 dimerise to form intermediate filaments, which provide structure, strength and flexibility to the keratinocyte cytoskeleton. This article is protected by copyright. All rights reserved.

This article is protected by copyright. All rights reserved.

PMID 27611893

The Frequency of Signs of Meibomian Gland Dysfunction in Children with Epidermolysis Bullosa

Ophthalmology. 2016 May;123(5):991-9. doi: 10.1016/j.ophtha.2015.12.040. Epub 2016 Feb 12.

Jones SM1, Smith KA2, Jain M2, Mellerio JE3, Martinez A3, Nischal KK4. Author information Abstract PURPOSE: To determine the frequency of meibomian gland dysfunction (MGD) in children with epidermolysis bullosa (EB).

DESIGN: Hospital-based cross-sectional study.

PARTICIPANTS: One hundred five children with different forms of EB.

METHODS: Prospective ophthalmic examination of children with EB presenting over seventeen months including meibomian gland assessment using a recognized classification.

MAIN OUTCOME MEASURES: Frequency of MGD.

RESULTS: One hundred five children were recruited, 8.6% with junctional EB, 34.3% with simplex EB, 34.3% with autosomal recessive dystrophic EB, and 22.9% autosomal dominant dystrophic EB. Mean age was 7.42 years (range, 0.08-17.75 years). Ninety-two children (87.62%) demonstrated 1 or more features of MGD.

CONCLUSIONS: Most children with EB exhibit signs of MGD. To the best of our knowledge, this is the first prospective ocular surface evaluation in children with EB to include lid margin evaluation using a recognized classification system. Our findings help explain some of the ocular surface anomalies seen in children with EB.

Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

PMID 26876697

2010

Incomplete development of the nail of the hallux in the newborn

Dermatol Online J. 2010 Jun 15;16(6):1.

Milano A, Cutrone M, Laforgia N, Bonifazi E.

Unit of Paediatric Dermatology, University of Bari, Bari, Italy. Abstract Between March and October 2008, the nails of 541 (252 females, 289 males) consecutively born neonates with an average age of 3.2 days were examined in the Neonatology Unit. Of these newborns with nail disorders, 36 were re-examined after a period that ranged from seven days to six months. The most frequent nail alteration was the incomplete development of the hallux nail, which was triangular - sometimes trapezoidal - shaped. This alteration, which had been previously reported in the literature as congenital hypertrophy of the lateral folds of the hallux, spontaneously regressed within one to three months in the infants re-examined. There was no associated inflammation or onychocryptosis at any time. The apparent hypertrophy of the nail folds seemed to be secondary to the lack of pressure of the nail lamina.

PMID 20579456

http://dermatology.cdlib.org/1606/1_originals/1_10-00107/bonifazi.html

Dermatology Online Journal was created in an effort to explore the educational potential of distributed hypermedia served via the World Wide Web. The journal is attempting to serve the dual role of providing relevant information and improving the way scholarly content is shared. Dermatology Online Journal © The Regents of the University of California, Davis campus. Individual articles © by their authors. All material is available under the Creative Commons BY-NC-ND license. This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License

Atopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skin

Dumortier A, Durham AD, Di Piazza M, Vauclair S, Koch U, Ferrand G, Ferrero I, Demehri S, Song LL, Farr AG, Leonard WJ, Kopan R, Miele L, Hohl D, Finke D, Radtke F. PLoS One. 2010 Feb 18;5(2):e9258. PMID 20174635

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0009258

Retrieved from ‘https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:Integumentary_System_-_Abnormalities&oldid=300035’
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