Skip to main content

Table 1 The “Woolly hair spectrum”

From: Clinical spectrum of woolly hair: indications for cerebral involvement

  Clinical features Genes
Localized WH isolated (patchy)  
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  
AD WH-hypotrichosis (mild and severe) KRT71 (22) KRT74 (23)
  1. 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