A minimal form of Proteus syndrome presenting with macrodactyly and hand hyperplasia.
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.
Morelli
Federica
F
Institute of Dermatology, Ospedale Clinicizzato SS. Annunziata, Dipartimento di Oncologia e Neuroscienze, Colle dell'Ara, Via Dei Vestini, Chieti Scalo 66013, Italy.
Feliciani
Claudio
C
Toto
Paola
P
De Benedetto
Anna
A
Tulli
Antonello
A
D000328:Adult; D003951:Diagnostic Errors; D006225:Hand / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000209:etiology* / Q000601:surgery; D006801:Humans; D006965:Hyperplasia; D008297:Male; D016715:Proteus Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D012008:Recurrence