Integumentary System - Abnormalities

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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.

Integumentary Links: Introduction | Lecture | Hair | Tooth | Nail | Gland | Mammary Gland | Eyelid | Outer Ear | Melanocyte | Touch | Histology | Abnormalities | Category:Integumentary
Historic Embryology  
1910 Manual of Human Embryology | 1914 Integumentary | 1923 Head Subcutaneous Plexus | 1921 Text-Book of Embryology | 1924 Developmental Anatomy | 1941 Skin Sensory | Historic Disclaimer

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 shows an automated computer PubMed search using the listed sub-heading term.

  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
  • References appear in 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.

Links: References | Discussion Page | Pubmed Most Recent | Journal Searches

Search term: Integumentary congenital abnormalities

Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. Ophthalmic Genet.: 2017;1-10 PubMed 28095086

Andrea G Edlow, Donna K Slonim, Heather C Wick, Lisa Hui, Diana W Bianchi The Pathway Not Taken: Understanding 'Omics Data in the Perinatal Context. Am. J. Obstet. Gynecol.: 2015; PubMed 25772209

Michael D Corbo, Joseph Lam Zinc deficiency and its management in the pediatric population: a literature review and proposed etiologic classification. J. Am. Acad. Dermatol.: 2013, 69(4);616-624.e1 PubMed 23688650

Anya A Trumler Evaluation of pediatric cataracts and systemic disorders. Curr Opin Ophthalmol: 2011, 22(5);365-79 PubMed 21832913

Matthew P Harris, Nicolas Rohner, Heinz Schwarz, Simon Perathoner, Peter Konstantinidis, Christiane Nüsslein-Volhard Zebrafish eda and edar mutants reveal conserved and ancestral roles of ectodysplasin signaling in vertebrates. PLoS Genet.: 2008, 4(10);e1000206 PubMed 18833299

International Classification of Diseases

ICD10 Other congenital malformations (Q80-Q89)  
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.
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
World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English)
Integumentary Links: Introduction | Lecture | Hair | Tooth | Nail | Gland | Mammary Gland | Eyelid | Outer Ear | Melanocyte | Touch | Histology | Abnormalities | Category:Integumentary
Historic Embryology  
1910 Manual of Human Embryology | 1914 Integumentary | 1923 Head Subcutaneous Plexus | 1921 Text-Book of Embryology | 1924 Developmental Anatomy | 1941 Skin Sensory | Historic Disclaimer
ICD10 - Gastrointestinal | Genital | Renal | Integumentary

Cutis Aplasia

Cutis Aplasia
(Image: NZ Crown copyright)

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.

ICD-10 Code: Q84.8 Other specified congenital malformations of integument Aplasia cutis congenita

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.

ICD-10 Code: Q79.6 Ehlers-Danlos syndrome

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

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.

ICD-10 Code: Q81.0 Epidermolysis bullosa simplex

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)

ICD-10 Code: Q82.3 Incontinentia pigmenti

OMIM Database Search: "Incontinentia Pigmenti" (2006 - 26 search results)

Harlequin Ichthyosis

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 Harlequin Ichthyosis OMIM ABCA12


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

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 [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.

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)


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


  1. N Malchin, O Sarig, M Grafi-Cohen, S Geller, I Goldberg, A Shani, A Gat, E Sprecher, J Mashiah A novel homozygous deletion in EXPH5 causes a skin fragility phenotype. Clin. Exp. Dermatol.: 2016, 41(8);915-918 PubMed 27730671
  2. Neeltje A Coolen, Kelly C W M Schouten, Esther Middelkoop, Magda M W Ulrich Comparison between human fetal and adult skin. Arch. Dermatol. Res.: 2010, 302(1);47-55 PubMed 19701759
  3. Kee Cheol Shin, Bo Young Park, Han Koo Kim, Woo Seob Kim, Tae Hui Bae The use of cultured allogenic keratinocyte grafting in a patient with epidermolysis bullosa simplex. Ann Dermatol: 2011, 23(Suppl 3);S393-7 PubMed 22346287
  4. Lei Zhang, Michael Ferreyros, Weiguo Feng, Melanie Hupe, Debra A Crumrine, Jiang Chen, Peter M Elias, Walter M Holleran, Lee Niswander, Daniel Hohl, Trevor Williams, Enrique C Torchia, Dennis R Roop Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. PLoS ONE: 2016, 11(8);e0161465 PubMed 27551807
  5. AIHW 2014. BreastScreen Australia monitoring report 2011-2012. Cancer series no. 86. Cat. no. CAN 83. Canberra: AIHW.



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

Abnormality Links: Introduction | Genetic | Environmental | Unknown | Teratogens | Cardiovascular | Coelomic Cavity | Endocrine | Gastrointestinal Tract | Genital | Head | Integumentary | Musculoskeletal | Limb | Neural | Neural Crest | Renal | Respiratory | Placenta | Sensory | Hearing | Vision | Twinning | Developmental Origins of Health and Disease | ICD-10
Historic Embryology  
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Cite this page: Hill, M.A. 2017 Embryology Integumentary System - Abnormalities. Retrieved June 29, 2017, from

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© Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G