Epidermal Nevus malady

Genetics Home Reference: An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can 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. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth.¹⁷

MalaCards: Epidermal Nevus, also known as linear sebaceous nevus sequence, is related to inflammatory linear verrucous epidermal nevus and epidermolytic hyperkeratosis. An important gene associated with Epidermal Nevus is CD8A (CD8a molecule), and among its related pathways are Primary immunodeficiency and Activation of NF-KappaB by PKR. The compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and pigmentation.

Wikipedia: Epidermal nevus syndrome (also known as \"Feuerstein and Mims syndrome,\" and \"Solomon\'s syndrome\")...⁴⁴ more...

OMIM: 162900

epidermal nevus 17 linear sebaceous nevus sequence 43 nevus, epidermal (disorder) 43

epidermal nevus syndrome 32 benign melanocytic nevus 43 nevus, epidermal 33

Diseases related to epidermal nevus by text searches and GeneDecks gene sharing:

(show top 50)    (show all 68)

id	Related Disease	Score	Top Affiliating Genes
1	inflammatory linear verrucous epidermal nevus	33.6	KRT10, CD8A
2	epidermolytic hyperkeratosis	29.1	KRT10, KRT1
3	nevus	27.8	CD8A, IKBKG, FGFR3, PTEN, CREBBP, PHEX
4	rickets	27.1	PHEX, KRT10, FGF23, CREBBP
5	cerebritis	26.1	PTEN, IKBKG, FGFR3, NSDHL, CD8A
6	epidermal nevus vitamin d resistant rickets	24.6	KRT10, KRT1, PHEX, CREBBP, PTEN, IKBKG
7	cyclic ichthyosis with epidermolytic hyperkeratosis	13.2	KRT1, KRT10
8	epidermolytic acanthoma	13.2	KRT1, KRT10
9	ichthyosis bullosa of siemens	13.2	KRT10, KRT1
10	acanthoma	13.2	KRT10, KRT1
11	bowen syndrome	13.2	KRT10, KRT1
12	palmoplantar keratosis	13.2	KRT10, KRT1
13	hidradenitis suppurativa	13.1	KRT10, KRT1
14	hidradenitis	13.1	KRT10, KRT1
15	epidermolysis bullosa simplex	13.0	KRT10, KRT1
16	lymphocytic choriomeningitis	13.0	CD8A, KRT1
17	cervix carcinoma	13.0	KRT10, FGFR3
18	giant cell tumor	13.0	FGF23, FGFR3
19	hypophosphatemic rickets, autosomal dominant	12.9	PHEX, FGF23
20	arterial calcification of infancy	12.9	PHEX, FGF23
21	enthesopathy	12.9	PHEX, FGF23
22	oncogenic osteomalacia	12.9	FGF23, PHEX
23	hyperpigmentation of eyelid	12.9	IKBKG, FGFR3
24	x-linked hypophosphatemia	12.9	PHEX, FGF23
25	cystic teratoma	12.9	KRT10, PTEN
26	familial hypophosphatemia	12.9	FGF23, PHEX
27	congenital ichthyosiform erythroderma	12.8	NSDHL, KRT1, KRT10
28	growth disorders	12.8	PHEX, FGFR3
29	keratosis	12.7	FGFR3, KRT1, KRT10
30	endocarditis	12.7	NSDHL, KRT1, KRT10
31	cholesteatoma	12.7	PTEN, KRT1, KRT10
32	hyperphosphatemia	12.7	PHEX, FGF23
33	skin disease	12.6	KRT10, FGFR3, KRT1
34	paraneoplastic syndromes	12.5	PHEX, FGF23
35	chondrodysplasia	12.5	FGF23, PHEX, FGFR3
36	synovial sarcoma	12.4	FGFR3, KRT1, PTEN
37	skin benign neoplasm	12.3	KRT1, FGFR3
38	papilloma	12.3	KRT10, PTEN, KRT1, FGFR3
39	cervical carcinoma	12.2	PTEN, FGFR3, KRT1, KRT10
40	short stature	12.1	FGFR3, FGF23, CREBBP
41	blindness	11.9	FGF23, PHEX, KRT10, PTEN
42	mayer-rokitansky-kuster-hauser syndrome	11.9	KRT1, FGF23, KRT10, IKBKG, FGFR3
43	bartter disease	11.7	FGFR3, KRT10, CREBBP, PTEN
44	myelodysplastic syndrome	11.7	PTEN, CD8A, IKBKG, CREBBP
45	growth retardation with deafness and mental retardation due to igf1 deficiency	11.7	PHEX, CREBBP, FGFR3, FGF23
46	oral squamous cell carcinoma	11.6	FGFR3, PTEN, KRT1, CREBBP
47	retinoblastoma	11.5	FGFR3, KRT10, CREBBP, PTEN
48	squamous cell carcinoma	11.4	PTEN, FGFR3, CREBBP, KRT10, KRT1
49	t-cell leukemia	11.2	CREBBP, PTEN, IKBKG, FGFR3
50	cervicitis	11.0	PTEN, FGFR3, KRT1, KRT10, CREBBP

Clinical features from OMIM: 162900

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to epidermal nevus:

²²

MGI Mouse Phenotypes related to epidermal nevus:

²⁵ (show all 14)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	9.5	KRT10, PHEX
2	pigmentation phenotype	MP:0001186	8.8	KRT1, PTEN, IKBKG, NSDHL
3	tumorigenesis	MP:0002006	7.9	PTEN, KRT10, CREBBP, FGFR3, IKBKG
4	adipose tissue phenotype	MP:0005375	7.8	PHEX, CREBBP, PTEN, IKBKG
5	skeleton phenotype	MP:0005390	7.4	NSDHL, PHEX, CREBBP, PTEN, FGFR3, FGF23
6	hematopoietic system phenotype	MP:0005397	7.4	CREBBP, PTEN, FGFR3, FGF23, IKBKG, CD8A
7	digestive/alimentary phenotype	MP:0005381	7.4	FGF23, PHEX, CREBBP, PTEN, IKBKG, FGFR3
8	limbs/digits/tail phenotype	MP:0005371	7.2	FGF23, FGFR3, PTEN, CREBBP, PHEX, KRT10
9	behavior/neurological phenotype	MP:0005386	7.2	FGFR3, IKBKG, PTEN, CREBBP, PHEX, NSDHL
10	immune system phenotype	MP:0005387	6.8	KRT10, IKBKG, FGFR3, FGF23, CD8A, PTEN
11	growth/size phenotype	MP:0005378	6.7	KRT10, FGF23, PHEX, FGFR3, IKBKG, NSDHL
12	integument phenotype	MP:0010771	6.7	CD8A, NSDHL, KRT10, KRT1, IKBKG, CREBBP
13	homeostasis/metabolism phenotype	MP:0005376	6.6	FGFR3, IKBKG, FGF23, CREBBP, PHEX, KRT1
14	mortality/aging	MP:0010768	6.0	KRT10, KRT1, CD8A, PHEX, CREBBP, PTEN

Articles related to epidermal nevus:

id	Title	Authors	Year	Affiliating Genes
1	An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. (18642369)	Garcia-Vargas A.... Happle R.	2008	FGFR3
2	Linear Cowden nevus: a new distinct epidermal nevus. (17337396)	Happle R.	2007	PTEN
3	Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. (17392703)	Caux F.... Longy M.	2007	PTEN
4	Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. (17255957)	Tsubota A.... Shimizu H.	2007	KRT1
5	A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus. (16752378)	Tekin M.... Akar N.	2006	PTEN
6	Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus. (15679074)	Chou Y.Y.... Lin S.J.	2005	PHEX
7	Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? (16222671)	Heike C.L.... Whyte M.P.	2005	FGF23
8	Immunohistochemical differentiation between inflammatory linear verrucous epidermal nevus (ILVEN) and psoriasis. (15319153)	Vissers W.H.... van de Kerkhof P.C.	2004	CD8A, KRT10
9	Rubinstein-Taybi syndrome with epidermal nevus: a cas e report. (11207968)	Schepis C.... Romano C.	2001	CREBBP
10	Genetic and clinical mosaicism in a type of epidermal nevus. (7526210)	Paller A.S.... Fuchs E.	1994	KRT10

Genes related to epidermal nevus according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CD8A	CD8a molecule	11.0	Publications
2	KRT10	keratin 10	11.0	Publications
3	FGF23	fibroblast growth factor 23	11.0	Publications
4	NSDHL	NAD(P) dependent steroid dehydrogenase-like	11.0
5	KRT1	keratin 1	11.0	Publications
6	IKBKG	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	11.0
7	FGFR3	fibroblast growth factor receptor 3	11.0	Publications
8	PHEX	phosphate regulating endopeptidase homolog, X-linked	11.0	Publications
9	CREBBP	CREB binding protein	11.0	Publications
10	PTEN	phosphatase and tensin homolog	11.0	Publications

Pathways related to epidermal nevus according to GeneDecks:

(show all 17)

id	Pathway	Score	Top Affiliating Genes
1	Primary immunodeficiency20	9.6	CD8A, IKBKG
2	Activation of NF-KappaB by PKR36	9.4	IKBKG, CREBBP
3	Signaling by EGFR38	9.4	FGF23, PTEN, FGFR3
4	Cellular Apoptosis Pathway36	9.3	FGF23, FGFR3, IKBKG
5	p53 Mediated Apoptosis36	9.3	FGF23, FGFR3, PTEN
6	Cellular Transformation by HTLV136	9.3	IKBKG, CREBBP
7	Renin-Angiotensin Pathway36	9.2	FGFR3, FGF23, IKBKG
8	Prostate cancer20	8.9	IKBKG, PTEN, CREBBP
9	PPAR Pathway36	8.9	CREBBP, FGFR3, FGF23
10	Akt Signaling36	8.8	FGF23, FGFR3, IKBKG, PTEN
11	Nuclear Receptor Activation by Vitamin-A36	8.8	CREBBP, FGFR3, FGF23
12	NF-KappaB (p50-p65) Pathway36	8.6	FGF23, IKBKG, CREBBP, FGFR3
13	NF-KappaB Family Pathway36	8.6	FGF23, CREBBP, IKBKG, FGFR3
14	Estrogen Pathway36	8.6	IKBKG, CREBBP, FGF23, FGFR3
15	IP3 Pathway36	8.5	CREBBP, PTEN, FGFR3, FGF23
16	p70S6K Signaling36	8.5	CREBBP, FGFR3, FGF23
17	Pathways in cancer20	8.1	FGF23, FGFR3, IKBKG, PTEN, CREBBP

Compounds related to epidermal nevus according to GeneDecks:

(show all 20)

id	Compound	Score	Top Affiliating Genes
1	tazarotene32 9 9	11.9	KRT1, KRT10
2	isotretinoin32 9 9	11.8	KRT10, KRT1
3	hematoxylin32	9.5	KRT10, KRT1, PTEN
4	threonine32	9.5	FGFR3, KRT1, KRT10
5	1,25 dihydroxy vitamin d332	9.4	PHEX, FGF23, KRT10
6	phenylalanine32	9.2	FGFR3, KRT1, FGF23
7	bicalutamide32 42 9 9	12.0	CREBBP, PTEN
8	calcitriol32 42 9 18 9	12.9	KRT10, PHEX, PTEN, FGF23
9	paraffin32	8.9	PTEN, KRT10, KRT1, FGFR3
10	leucine32	8.6	PHEX, IKBKG, PTEN, KRT1
11	retinoid32	8.6	KRT10, KRT1, CREBBP
12	progesterone32 42 9 18 9	12.5	CREBBP, KRT1, KRT10, PTEN
13	steroid32	8.4	KRT10, KRT1, CREBBP, PTEN
14	lipid32	8.3	PTEN, KRT1, NSDHL, IKBKG, FGFR3
15	proline32	8.3	FGF23, PHEX, CREBBP, KRT1, KRT10
16	vitamin d32	8.2	PHEX, KRT10, PTEN, CREBBP, FGF23
17	arginine32	7.4	FGF23, PTEN, IKBKG, FGFR3, KRT1, KRT10
18	serine32	7.4	FGFR3, FGF23, PTEN, KRT1, IKBKG, CREBBP
19	tyrosine32	7.1	PTEN, KRT1, KRT10, FGF23, IKBKG, FGFR3
20	calcium32 9 18 9	9.8	FGFR3, PHEX, KRT10, KRT1, FGF23, CREBBP

Biological processes related to epidermal nevus according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	fibroblast growth factor receptor signaling pathway	GO:008543	9.1	FGF23, FGFR3, PTEN