Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?
The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes.
Schauder
S
S
Department of Dermatology, Georg-August-University Goettingen, von-Siebold-Strasse 3, D-37075 Goettingen, Germany.
Hanefeld
F
F
Noske
U M
UM
Zoll
B
B
D000328:Adult; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis* / Q000473:pathology; D017496:Hypopigmentation / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D020752:Neurocutaneous Syndromes / Q000235:genetics; D018330:Nevus, Intradermal; D012878:Skin Neoplasms / Q000175:diagnosis