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[Cowden's disease: a new paediatric observation]

M Hachicha1, T Kammoun, I Chabchoub

  • 1Service de Pédiatrie, CHU Hédi-Chaker 3029 Sfax, Tunisie. mongia.hachicha@rns.tn

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|March 28, 2006
PubMed

Insights

This study details a pediatric Cowden's disease (multiple hamartoma syndrome) case, highlighting associated conditions like nephrotic syndrome and thyroid cancer. Early diagnosis is crucial for managing cancer risks in affected children.

Area of Science:

  • Pediatric Endocrinology
  • Clinical Genetics
  • Dermatology

Background:

  • Cowden's disease, also known as multiple hamartoma syndrome, is a rare genetic disorder.
  • It is characterized by an increased risk of developing benign and malignant tumors.
  • Genetic mutations in the PTEN gene are commonly associated with Cowden's disease.

Observation:

  • A 6-year-old child presented with features of Cowden's disease.
  • The child exhibited familial steroid-resistant nephrotic syndrome, gingival and oral mucosal lesions, multiple hamartomas on the back and upper limbs, facial dysmorphism, and follicular thyroid cancer.
  • The thyroid cancer was successfully treated with surgery, radioactive iodine, and L-thyroxine supplementation.

Findings:

  • The patient's thyroid cancer showed a favorable response to treatment.
  • The nephrotic syndrome progressed to chronic renal insufficiency over 11 years.
  • This case underscores the multisystemic nature of Cowden's disease in pediatric populations.

Implications:

  • Early diagnosis of Cowden's disease is vital for proactive patient monitoring.
  • Identifying Cowden's disease allows for timely surveillance of cancer development, the primary complication.
  • Comprehensive management strategies are essential for addressing the diverse clinical manifestations and long-term risks associated with this syndrome.

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