Clinical spectrum of woolly hair: indications for cerebral involvement

Table 1 The “Woolly hair spectrum”

			Clinical features	Genes
Localized			WH isolated (patchy)
Localized			WH nevus + epidermal nevi	HRAS (15)
Generalized	Syndromic		WH-PPK-ARVC (Naxos disease) ARCV + mild WH and PPK	JUP (16) DSC2 (17)
			WH-PPK-LDC (Carvajal-Huerta syndrome)	DSP (18)
			WH-PPK-pseudoainhum leuconychia	KANK2 (12)
			WH-ectodermal dysplasia-skin fragility	PKP1 (13)
			WH-diarrhea-inflammatory skin lesions	ADAM17 (19)
			WH-diarrhea-facial dysmorphism-immunodysfunction (tricho-hepato-enteric syndrome)	TTC37 (20) SKIV2L (21)
			WH-anomalous pigmentation-unilateral cerebral involvement
			WH-cerebral ectopia-polymicrogyria
	Non syndromic	AR	WH-hair loss
	Non syndromic	AD	WH-hypotrichosis (mild and severe)	KRT71 (22) KRT74 (23)

ADAM17 metallopeptidase domain 17 gene; ARVC Arrhythmogenic right ventricular cardiomyopathy; DSC2 desmosomal cadherin gene; DSP desmosomal plaque gene; HRAS Harvey Rat Sarcoma Viral Oncogene Homolog gene; JUP junction plakoglobin gene; LDC Left dilated cardiomyopathy; KANK2 KN Motif And Ankyrin Repeat Domains 2 gene; KRT71 Keratin 71 gene; KRT74 Keratin 74 gene; PKP1 plakophilin gene; PPK palmoplantar keratoderma; SKIV2L superkiller viralicidic activity 2-like gene; TTC37 Tetratricopeptide repeat-containing 37 gene; WH Woolly hair

ISSN: 1824-7288