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Proteus syndrome.

A S Mayekar1, R G Chavan, V A Phadke

  • 1Department of Dermatology, T N Medical College, BYL Nair Hospital, Mumbai - 400008, India.

Indian Journal of Dermatology, Venereology and Leprology
|October 15, 2010
PubMed
Summary
This summary is machine-generated.

This case report details a rare macrodactyly disorder in a child from India, potentially linked to maternal carbimazole use during pregnancy. The condition involved macrodactyly, lipomas, and lymphangioma circumscriptum, requiring surgical excision.

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Area of Science:

  • Medical Genetics
  • Dermatology
  • Pediatrics

Background:

  • Macrodactyly, characterized by disproportionately large digits, is a rare congenital anomaly.
  • Associated features can include lipomas, fibromas, epidermal nevi, and lymphangiomas, suggesting a potential underlying genetic or developmental disorder.
  • The role of teratogens, such as carbimazole, in the development of congenital anomalies requires further investigation.

Purpose of the Study:

  • To report a unique case of macrodactyly with multiple cutaneous and subcutaneous anomalies in a pediatric patient.
  • To highlight the first reported case of this specific presentation from India.
  • To explore a potential association between maternal carbimazole exposure and the development of this congenital disorder.

Main Methods:

  • Clinical presentation and physical examination of a 2½-year-old male child.
  • Radiographic imaging (X-ray of the hand) to assess skeletal abnormalities.
  • Histopathological examination of excised lipoma and lymphangioma circumscriptum for definitive diagnosis.

Main Results:

  • The patient presented with macrodactyly, dysmorphic features, large lipomas, small fibromas, linear verrucous epidermal nevus, and lymphangioma circumscriptum.
  • X-ray confirmed macrodystrophia lipomatosa progressiva.
  • Histopathology verified the diagnosis of lipoma and lymphangioma circumscriptum.

Conclusions:

  • This case represents a rare combination of congenital anomalies, including macrodactyly, in an Indian pediatric patient.
  • The findings suggest a possible novel mutational disorder, potentially influenced by maternal carbimazole intake during pregnancy.
  • Further research is warranted to elucidate the etiology and genetic underpinnings of such complex congenital presentations.