Nevus, Epidermal

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OMIM 57 162900 Disease Ontology 12 DOID:0111162 Orphanet 59 ORPHA35125 ORPHA79414 MESH via Orphanet 45 C536114 D054000 UMLS via Orphanet 74 C0334082 C0343114

ICD10 via Orphanet 34 Q85.8 D23.4 MedGen 42 C0334082 C3665593 SNOMED-CT via HPO 69 263681008 82525005 82649003 246635007 397540003 7973008 162294008 229721007 29164008 62415009 312894000 78441005 4830009 49765009 21119008 400096001 18655006 201284005 23006000 89031001 224958001 349006 37280007 248200007 32003007 398206004 398302004 71286001 302847003 30924005 246586009 366575004 51697005 126962006 46720004 93163002 22253000 34713006 more UMLS 73 C0334082 C0265329 C3854181 C0343114 C0027962 C3665593 more

OMIM : ⁵⁷ Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015). Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012). Also see giant pigmented hairy nevus (137550) and malignant melanoma (155600). (162900)

MalaCards based summary : Nevus, Epidermal, also known as epidermal nevus, is related to melanocytic nevus syndrome, congenital and epidermolytic nevus, and has symptoms including seizures An important gene associated with Nevus, Epidermal is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Mitogens and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are osteopenia and global developmental delay

UniProtKB/Swiss-Prot : ⁷⁵ Keratinocytic non-epidermolytic nevus: Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood.

NIH Rare Diseases : ⁵³ An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the “lines of Blaschko”. Sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones; these people are said to have an epidermal nevus syndrome, which is a group of different disorders. Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it, and may involve the FGFR3, PIK3CA or, HRAS genes. Treatment is challenging and may include topical medication and surgery.

Genetics Home Reference : ²⁵ An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.

Disease Ontology : ¹² A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.

Clinical features from OMIM:

162900

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	10.52	PIK3CA HRAS KRAS
2	Decreased viability	GR00106-A-0	10.52	KRAS
3	Decreased viability	GR00221-A-1	10.52	PIK3CA NRAS FGFR3 KRAS HRAS
4	Decreased viability	GR00221-A-2	10.52	PIK3CA KRAS FGFR3 HRAS
5	Decreased viability	GR00221-A-3	10.52	NRAS FGFR3 HRAS
6	Decreased viability	GR00221-A-4	10.52	PIK3CA
7	Decreased viability	GR00301-A	10.52	KRAS
8	Decreased viability	GR00381-A-1	10.52	KRAS
9	Decreased viability	GR00402-S-2	10.52	PIK3CA NRAS FGFR3 HRAS KRAS
10	Decreased cell migration	GR00055-A-1	9.46	PIK3CA KRAS HRAS FGFR3
11	Increased cell migration	GR00055-A-3	8.8	PIK3CA KRAS HRAS

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