Proteus syndrome*
نویسندگان
چکیده
Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations.
منابع مشابه
Proteus syndrome: A case report
The Proteus syndrome comprises an association of asymmetrical overgrowth of almost any part of the body, verrucous epidermal naevi, vascular malformations and lipoma-like subcutaneous hamartoma. Both sexes are affected with equal frequency and severity and it is not transmitted genetically. Here a 16-year-old man with asymmetric overgrowth of the extremities, macrodactyly, cerebriform hypertrop...
متن کاملReport of a case of Proteus syndrome with severe anemia
Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...
متن کاملProteus syndrome: a brief review
The Proteus syndrome is a rare mosaic syndrome, characterized by regional or localized areas of excess growth compared to equivalent normal parts of the body. In this review, we summarize the etiopathogenetic mechanisms responsible for tissue overgrowth anomalies and the diagnostic criteria utilized for the correct formulation of its diagnosis.
متن کاملOrthopaedic manifestations of Proteus syndrome in a child with literature update☆
BACKGROUND Proteus syndrome is a rare developmental disorder of unknown aetiology. It is a disorder characterized by postnatal overgrowth affecting multiple tissues. Proteus syndrome is most frequently manifested in skeletal changes. As manifestations of Proteus syndrome are highly variable, and many are found in other overgrowth syndromes, and due to inconsistent application of diagnostic crit...
متن کاملvon Recklinghausen ’ s Disease vs . Proteus Syndrome
Joseph Carey Merrick, better known as the “Elephant Man,” suffered from an extreme condition initially diagnosed as Neurofibromatosis I. Recent research, however, has challenged that view and has attributed his massive disfigurement to the effects of Proteus syndrome, one of the most debilitating and ravaging diseases known to man. An analysis of the data and pathology from Merrick’s records, c...
متن کاملEditorial Comment Proteus Syndrome: Misdiagnosis With PTEN Mutations
In this editorial, we briefly (1) define Proteus syndrome; (2) analyze reports of PTEN mutations claimed to have ‘‘Proteus syndrome’’ or a ‘‘Proteus-like syndrome’’; (3) demonstrate the high frequency of misdiagnosis of Proteus syndrome by clinicians less familiar with the disorder; and (4) discuss two series of patients who do meet the diagnostic criteria for Proteus syndrome among whom none h...
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