Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome

Abstract

The Proteus syndrome was described 1983 . It has asymmetric gigantism of the limbs, verrucous epidermal naevi, cerebriform enlargement of the plantar region, vascular malformations and neoplasms, as lipomas. It received this denomination after Proteus from the Greek mythology, who had the ability to change his form . A 15 year-old boy, reported a congenital hypertrophy with syndactily of the second and third right fingers . The second case is a 35 year-old man, who reported that since birth the second right toe was bigger than the other toes, skin hypertrophy was also observed. These cases document a localized form if the Proteus syndrome, which may widen the spectrum of its variability. Keywords: Hypertrophy; Hand deformities; Foot deformities Resumo: A síndorme de Proteus foi descrita por Wiedemann em 1983. Ela é caracterizada por gigantismo assimétrico dos membros, nevos epidérmicos verrucosos, hipertrofia cerebriforme da região plantar, neoformações vasculares e neoplasias, como lipomas. Essa polimórfica enfermidade recebeu essa denominação segundo a figura da mitologia grega, a qual tinha como característica a habilidade de mudar de forma, para evitar sua captura. Examinou-se um menino de 15 anos, o qual referiu hipertrofia e sindactilia do segundo e terceiro quirodáctilos direitos e um homem de 35 anos, que referiu hipertrofia congênita do segundo pododáctilo direito. Havia hipertrofia da pele em ambos os casos. Esses dois pacientes documentam formas localizadas dessa síndrome, ampliando seu espectro clínico.

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings

“…Current studies show this specificity of the finding is not valid (38). However, the recently announced limited diagnostic specificity does not affect the importance of the finding for orienting clinical examinations in the event of a suspected Proteus syndrome (39). CCTN is better assigned as connective tissue malformation (40) and was detected in 97% of cases (feet) and 28% (hands), resp.…”

Case for diagnosis. Vascular malformations, hemihypertrophy and macrodactyly: Proteus syndrome

“…The clinical manifestations are variable, with cases ranging from focal changes (isolated macrodactyly), 4 to extensive dysmorphism that undergoes changes over time, making the diagnosis and therapeutic approach difficult. 5 It is considered a rare condition, with an average incidence of 1/10,000,000 births, and less than 150 cases reported worldwide.…”

Proteus syndrome

“…The lesion locations and intensity vary significantly among patients, and are sometimes limited, which makes the diagnosis difficult. 3 , 5 , 6 …”

“…However, recurrence of deformities is common. 3 , 4 Follow-up should be referred to a team of vascular surgery, plastic surgery, and pneumology. 2 …”

“…It was described by Cohen and Hayden as a distinct clinical entity in 1979, but it was only in 1983 that Wiedeman would give its name. 3 - 6 The earliest case of Proteus syndrome was reported by Joseph Merrick and described by Treves, in the 19 th century. 3 , 5 , 7 …”