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Epidermolytic nevus

MedGen UID:
724389
Concept ID:
C1302848
Neoplastic Process
Synonyms: Epidermal nevus with epidermolytic hyperkeratosis; Epidermolytic epidermal nevus; epidermolytic epidermal nevus; epidermolytic nevus; Epidermolytic verrucous epidermal nevus; epidermolytic verrucous epidermal nevus
SNOMED CT: Epidermolytic epidermal nevus (400142003); Epidermolytic epidermal nevus (787086003)
 
Monarch Initiative: MONDO:0044656
Orphanet: ORPHA497737

Definition

A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Epidermolytic nevus

Professional guidelines

PubMed

Irvine AD, McLean WH
Br J Dermatol 1999 May;140(5):815-28. doi: 10.1046/j.1365-2133.1999.02810.x. PMID: 10354017

Recent clinical studies

Etiology

Diociaiuti A, Castiglia D, Corbeddu M, Rotunno R, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Zambruno G, El Hachem M
Int J Mol Sci 2020 Oct 18;21(20) doi: 10.3390/ijms21207707. PMID: 33081034Free PMC Article

Diagnosis

Behera B, Chiramel MJ, Kumari R, Gochhait D
Am J Dermatopathol 2021 May 1;43(5):397-399. doi: 10.1097/DAD.0000000000001836. PMID: 33156020

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