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

Macrodactilia com hipertrofia da pele: uma forma mínima da síndrome de Proteu

Abstracts

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

Hypertrophy; Hand deformities; Foot deformities


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

Deformidades congênitas do pé; Dermatoses da mão; Hipertrofia


CASO CLÍNICO

Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome* * Study conducted at the Federal University of Pelotas (UFPel), at the Catholic University of Pelotas (UCPEL) and at the University of Marburg, Germany.

Macrodactilia com hipertrofia da pele: uma forma mínima da síndrome de Proteu

Hiram Larangeira de Almeida JrI; Roberto Coswig FissII; Rudolf HappleIII

IAssistant Professor, Federal University of Pelotas, (UFPel). Adjunct Professor, Catholic University of Pelotas (UCPEL), Pelotas, Rio Grande do Sul, Brazil

IICurrently participating in a Medical Residency Program at the Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil

IIIHead of the Department of Dermatology, Emeritus Professor of the University of Marburg, Hesse, Germany

Mailing address

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.

Palavras-chave: Deformidades congênitas do pé; Dermatoses da mão; Hipertrofia

INTRODUCTION

The Proteus syndrome was described by the German Pediatrician, Hans-Rudolf Wiedemann in 1983 1. It is characterized by asymmetric gigantism of the limbs, verrucous epidermal naevi, cerebriform connective tissue nevus of the plantar region, vascular malformations and neoplasms, such as lipomas 2-4 . This peculiar syndrome received this denomination in comparison to Proteus from the Greek mythology, who was characterized by the ability to change his form to avoid capture.

We examined two cases of a localized form if the Proteus syndrome, which may widen the spectrum of its variability.

CASE REPORTS

The first case is a 15 year-old boy, who reported that since birth a hypertrophy with syndactily of the second and third right fingers was observed, the fingers were separated surgically. He asks for the possibility of a surgical treatment, since he feels some embarassement with his dysmorphic right hand. At skin examination an important macrodactily was seen (Figure 1) with some lateral deviation of the affected fingers. The hypertrophic nails were not dystrophic. The skin adjacent to the enlarged fingers was thicker than the rest of the back of the hand.

The second case is a 35 year-old man, who reported that since birth the second right toe was bigger than the other toes. The patient does not want to treat his condition. Skin examination showed hypertrophy of the second right toe (Figure 2), with adjacent enlargement of the plantar skin. The plantar dermatoglyphics were maintained in the hypertrophic skin area (Figure 2).

DISCUSSION

This multisystemic heterogeneous features were termed Proteus Syndrome, since it may be widely variable, as the Greek sea-god Proteus. The adjective derived from this name, protean, is used to denote mutant, variable, taking many forms.

The diagnosis may be established with mandatory general criteria 2(mosaic distribution of lesions, progressive course and sporadic occurrence) and with specific criteria 2, such as connective tissue nevus, or two of the following features (epidermal nevus, disproportionate growth of the limbs, skull hyperostosis, megalospondylodysplasia, visceromegaly, bilateral ovarian cystoadenomas or parotid adenoma), or three of the following criteria (dysregulated adipose tissue lipomas or fat absence, vascular malformations - capillary, venous or lymphatic, facial phenotype - dolichocephaly, long face, minor downslanting of palpebral comissures and/or minor ptosis, low nasal bridge, wide or anteverted nares, open mouth at rest) .

The cases here described have a localized distribution of lesions and are sporadic, with a skin hypertrophy, which may be considered a connective nevus and with localized limb overgrowth, the macrodactily, therefore they fulfill general and specific criteria to establish the diagnosis of Proteus syndrome.

There are many reports in the literature of macrodactily with skin hypertrophy, affecting fingers or toes 5-9 some other cases were published as isolated macrodactily, probably before the description of the Proteus syndrome 10-11.

This minimal acral variant should be included in the spectrum of the Proteus Syndrome and should be recognized by dermatologists.

Recebido em 28.04.2010. Aprovado pelo Conselho Consultivo e aceito para publicação em 01.06.2010.

Conflict of interest: None

Financial funding: None

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  • 10. Nitidandhaprabhas P. Congenital megalodactyly. Arch Dermatol. 1976;112:1036.
  • 11. Barsky AJ. Macrodactyly. J Bone Joint Surg. 1967;49:1255-66.

  • Mailing address:
    Dr. Hiram Larangeira de Almeida Jr
    Mestrado em Saúde e Comportamento - UCPEL
    Rua Barroso 1202
    107 96010-280 Pelotas RS, Brazil
    E-mail:
  • *
    Study conducted at the Federal University of Pelotas (UFPel), at the Catholic University of Pelotas (UCPEL) and at the University of Marburg, Germany.

Publication Dates

  • Publication in this collection
    21 June 2011
  • Date of issue
    June 2011

History

  • Received
    28 Apr 2010
  • Accepted
    01 June 2010
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