Talk:Integumentary System - Abnormalities

From Embryology

ICD 11


  • 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


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.


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.


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


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

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