Klinische FragestellungKräuselhaar/Wollhaar, isoliert; Differentialdiagnose

NGS +

Abnorme Struktur des Kopfhaares, extrem geknickt

• Alias: Familial woolly hair syndrome
• Alias: Hereditary woolly hair syndrome
• Alias: Woolly or curly hair, non-syndromic
• Allelic: Arrhythmogenic right ventricular dysplasia 12 (JUP)
• Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Allelic: Ectodermal dysplasia 7, hair/nail type (KRT74)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: Nephrotic syndrome, type 16 (KANK2)
• Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
• Ectodermal dysplasia/skin fragility syndrome (PKP1)
• Hypotrichosis 13 (KRT71)
• Hypotrichosis 3 (KRT74)
• Hypotrichosis 7 (LIPH)
• Hypotrichosis 8 (LPAR6)
• Inflammatory skin and bowel disease, neonatal, 1 (ADAM17)
• Naxos disease: woolly hair, palmoplantar keratoderma, cardiac abnormalities (JUP)
• Palmoplantar keratoderma + woolly hair (KANK2)
• Skin fragility-woolly hair syndrome (DSP)
• Trichohepatoenteric syndrome 2 SKIC2 syn. SKIV2L)
• Woolly hair, AD (KRT74)
• Woolly hair, AR 1, with or without hypotrichosis (LPAR6)
• Woolly hair, AR 2, with/-out hypotrichosis (LIPH)
• Woolly hair, AR 3 (KRT25)