Proteus syndrome is a rare congenital disorder characterized by progressive course and great variability of clinical presentation with partial gigantism of extremities, hemihyperplasia with macrocephaly, epidermal nevus, mesodermal hamartomas and the presence of peculiar cerebriform masses on the palms/soles. Many atypical cases have been reported and this is probably due to the mosaicism of the genetic disorder displaying different clinical features. We describe a patient with an extremely mild form of Proteus syndrome presenting macrodactyly and hyperplasia of one hand which was misdiagnosed until the age of 33 years.
A minimal form of Proteus syndrome presenting with macrodactyly and hand hyperplasia
FELICIANI, Claudio;
2003-01-01
Abstract
Proteus syndrome is a rare congenital disorder characterized by progressive course and great variability of clinical presentation with partial gigantism of extremities, hemihyperplasia with macrocephaly, epidermal nevus, mesodermal hamartomas and the presence of peculiar cerebriform masses on the palms/soles. Many atypical cases have been reported and this is probably due to the mosaicism of the genetic disorder displaying different clinical features. We describe a patient with an extremely mild form of Proteus syndrome presenting macrodactyly and hyperplasia of one hand which was misdiagnosed until the age of 33 years.File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
