Integumentary System - Abnormalities: Difference between revisions
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==Some Recent Findings== | ==Some Recent Findings== | ||
==International Classification of Diseases== | |||
{{ICD Integumentary (Q80-Q89)}} | |||
==Cutis Aplasia== | ==Cutis Aplasia== | ||
Revision as of 19:11, 14 September 2016
Embryology - 18 Apr 2024    Expand to Translate
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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.
Some Recent Findings
International Classification of Diseases
| ICD10 Other congenital malformations (Q80-Q89) | ||||||||||||||||
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The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. Includes this section on XVII Congenital Malformations.
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| Q80 Congenital ichthyosis
Excl.: Refsum's disease (G60.1)
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Q81 Epidermolysis bullosa
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| Q83 Congenital malformations of breast
Excl.: absence of pectoral muscle (Q79.8)
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Q84 Other congenital malformations of integument
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| World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English) | ||||||||||||||||
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| ICD10 - Gastrointestinal | Genital | Renal | Integumentary | ||||||||||||||||
Cutis Aplasia
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" (2006 - 33 search results)
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: "Ehlers-Danlos Syndrome" (2005 - 77 search results)
GeneReviews Ehlers-Danlos Syndrome | Ehlers-Danlos Syndrome, Vascular Type | 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.
OMIM Database Search: "Epidermolysis Bullosa Simplex" (2005 - 35 search results)
GeneReviews Epidermolysis Bullosa Simplex
Autosomal Recessive Congenital Ichthyosis
Ichthyosis is an excessive keratinization disorder.
OMIM Database Search: "Congenital Ichthyosis" (2005 - 73 search results)
GeneReviews 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.
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)
OMIM Database Search: "Incontinentia Pigmenti" (2006 - 26 search results)
Neuroblastoma
OMIM Database Search: "Neuroblastoma" (2006 - 242 search results)
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" (2005 - 30 search results) | "dentinogenesis imperfecta" (2005 - 29 search results) | "enamel hypoplasia" (2005 - 53 search results) |
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 [1]
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.
Albinism autosomal recessive trait resulting in lack of pigment in skin, hair and retina.
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.
Quinacrine used for treatment of giardiasis, produces a yellow skin color, but the urine remains normal.
OMIM Database Search: "albinism" (2005 - 73 search results) | "Jaundice" (2005 - 121 search results)
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.
There are several different forms:
- Superficial spreading melanoma - most common type of melanoma about 70% of all melanomas.
- 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: [SEER Training Module
References
- ↑ 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
Reviews
Articles
Search Pubmed
Search Pubmed: Integumentary System Development
Ehlers-Danlos Syndrome
| 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 | ||
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Cite this page: Hill, M.A. (2024, April 18) Embryology Integumentary System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Integumentary_System_-_Abnormalities
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
