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?

• Published in: British journal of dermatology (1951) Vol. 142; no. 6; pp. 1204 - 1207
• Main Authors: Schauder, S., Hanefeld, F., Noske, U.M., Zoll, B.
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.06.2000; Blackwell; Oxford University Press
• Subjects: Adult; autosomal lethal gene syndrome; Biological and medical sciences; Blaschko’s lines; Brain - abnormalities; cerebral malformations; depigmented hypertrichosis; Dermatology; epidermal naevus syndromes; Eye Abnormalities - diagnosis; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Humans; Hypertrichosis - diagnosis; Hypertrichosis - pathology; Hypopigmentation - diagnosis; Hypopigmentation - pathology; Male; Medical sciences; neurocutaneous syndrome; Neurocutaneous Syndromes - genetics; Nevus, Intradermal; Skin Neoplasms - diagnosis; Human; Hair; Skin disease; Nervous system diseases; Pigmentation disorder; Hypomelanosis; Blaschko line; Case study; Eye; Eye disease; Association; Malformation; Hypertrichosis; Brain (vertebrata)
• ISSN: 0007-0963; 1365-2133
• DOI: 10.1046/j.1365-2133.2000.03551.x

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.