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An Unusual Transition from Cutaneous to Systemic Mastocytosis in a Pediatric Patient.

Keval PatelLyda Cuervo-PardoSamantha CresoeVanessa Cavero-Chavez
Published in: Pediatric allergy, immunology, and pulmonology (2023)
Background: Cutaneous mastocytosis (CM) occurs when abnormal mast cells accumulate in the skin, whereas in systemic mastocytosis (SM), accumulation also occurs in other tissues. A transition from CM to SM is an atypical occurrence in pediatric patients. Case Presentation: An 8-month-old female presented with a 3-month history of whole body hyperpigmented macules with a normal serum tryptase level, consistent with a diagnosis of CM. At age 2.5 years, cutaneous lesions increased and repeat serum tryptase levels were elevated. Subsequent positive peripheral blood KIT D816V mutation testing furthered concern for a monoclonal mast cell disorder; therefore, prompting a bone marrow biopsy which was consistent with a diagnosis of SM. Conclusion: Our case depicts the possible transition from CM to SM in a pediatric patient. Despite an initial presentation consistent with a diagnosis of CM, watchful monitoring for signs and symptoms indicative of systemic involvement may be warranted in some pediatric patients.
Keyphrases
  • bone marrow
  • peripheral blood
  • risk assessment
  • mesenchymal stem cells
  • gene expression
  • physical activity
  • sleep quality