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Fibrodysplasia ossificans progressiva.

L Subramanyam1, Kalpana Gowrishankar, So Shivbalan

  • 1Kanchi Kamakoti CHILDS Trust Hospital, Nageswara Road, Nungambakkam, Chennai, India.

Indian Journal of Pediatrics
|July 1, 2004
PubMed
Summary

A rare genetic disorder, Fibrodysplasia Ossificans Progressiva, caused painful skin stiffening and swellings in a 2-year-old boy. Early diagnosis is crucial for managing this progressive condition.

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Area of Science:

  • Medical Genetics
  • Pediatric Rheumatology
  • Skeletal Dysplasias

Background:

  • Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare genetic disorder characterized by progressive heterotopic ossification.
  • It affects connective tissues, leading to bone formation in muscles, tendons, and ligaments, causing severe disability.

Observation:

  • A 2-year-old boy presented with a 2-month history of low-grade fever, painful swellings on his trunk and supraclavicular area, and progressive skin stiffening.
  • Physical examination revealed characteristic features including a dysmorphic face, proximally placed thumbs, and bilateral hallux valgus.

Findings:

  • The clinical presentation and physical examination findings strongly suggested a diagnosis of Fibrodysplasia Ossificans Progressiva.
  • The progressive nature of the swellings and skin stiffening are hallmark signs of this condition.

Implications:

  • This case highlights the importance of recognizing the early signs of Fibrodysplasia Ossificans Progressiva in pediatric patients.
  • Prompt diagnosis is essential for genetic counseling, supportive care, and potential future therapeutic interventions for FOP.

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