Delleman syndrome: report of a case with a mild phenotype.
Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of oculocerebrocutaneous syndrome with predominant and typical cutaneous involvement is reported.
Cambiaghi
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Centro per le Malattie Cutanee Ereditarie, Istituto di Scienze Dermatologiche, IRCCS Policlinico, Università di Milano, Via Pace 9, 20122 Milano, Italy. stefanodoc@tiscalinet.it
Levet
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Guala
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Baldini
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Gianotti
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R
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002490:Central Nervous System / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D013577:Syndrome