Author(s) : Federica MORELLI, Claudio FELICIANI, Paola TOTO, Anna DE BENEDETTO, Antonello TULLI, Institute of Dermatology, Ospedale Clinicizzato SS. Annunziata, Dipartimento di Oncologia e Neuroscienze, Colle dell'Ara, Via Dei Vestini, Chieti Scalo 66013, Italy.
Summary : 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.
Fig 1 - A) Palmar
surface of the left hand with a cerebriform hyperkeratotic mass and enlargement
of the third and forth fingers. B) Overgrowth of the third and
fourth fingers of the left hand with small nodular lesions.
General criteria: (all required)
- Mosaic distribution of lesions - Progressive course
- Sporadic occurrence
Specific Criteria:
- Either one from A or - Two from B or - Three from C
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