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[Tumoral calcinosis].

L Douira1, N Ismaili, M Raiss

  • 1Service de Dermatologie, CHU Ibn Sina, Rabat, Maroc. ldouira@yahoo.fr

Annales De Dermatologie Et De Venereologie
|May 18, 2007
PubMed
Summary
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This case report details a rare instance of sporadic tumoral calcinosis in a child. The condition presented with painful periarticular masses and nerve compression, highlighting the need for careful diagnosis.

Area of Science:

  • Dermatology
  • Pediatrics
  • Genetics

Background:

  • Tumoral calcinosis is a rare condition characterized by calcifications in soft tissues, typically affecting adolescents and young adults.
  • Genetic mutations in fibroblast growth factor 23 and GalNAc transferase 3 are associated with familial forms of tumoral calcinosis.

Observation:

  • A 10-year-old boy presented with multiple periarticular calcified masses and sciatica due to nerve compression.
  • Laboratory tests revealed hyperphosphatemia, with normal serum calcium, kidney function, parathyroid hormone, and muscle enzymes.
  • Histological examination of a skin biopsy confirmed dermal calcifications, leading to a diagnosis of Inclan's tumoral calcinosis.

Findings:

  • This case represents a sporadic onset of tumoral calcinosis in a child with a light skin phototype.

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  • The presentation included significant sciatic nerve compression, a notable symptom.
  • Despite surgical intervention and phosphate chelator treatment, new calcified sites emerged within five months.

    • Implications:

    • This case underscores the importance of considering rare genetic disorders in pediatric patients with unexplained calcifications and neurological symptoms.
    • Early and accurate diagnosis is crucial for managing tumoral calcinosis and preventing complications like nerve compression.
    • Further research into the pathogenesis and treatment of sporadic tumoral calcinosis is warranted to improve patient outcomes.