Proteus syndrome: diagnosis in adulthood.
We describe a 24-year-old woman with many of the classical features of the Proteus syndrome. In childhood she had undergone bilateral forefoot amputations because of massive bilateral cerebriform hypertrophy of the feet. Other features include abnormally large fingers on one hand, a lymphangioma circumscriptum, an epidermal naevus, prominent venous varicosities and scattered lipomas. The disorder occurs sporadically and is thought to be secondary to a postzygotic mutation that survives by mosaicism.
Department of Dermatology, King's College Hospital, Denmark Hill, London, U.K.
F J
FJ
Child
D J
DJ
Werring
A W
AW
Vivier
D000328:Adult; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006801:Humans; D008202:Lymphangioma / Q000473:pathology; D009508:Nevus, Pigmented / Q000473:pathology; D016715:Proteus Syndrome / Q000175:diagnosis* / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology