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Proteus syndrome: diagnosis in adulthood

✍ Scribed by Child; Werring; DU Vivier

Book ID: 104458763
Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 446 KB
Volume: 139
Category: Article
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.1998.02330.x

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✦ Synopsis

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.

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