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Published on: October 14, 2021
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[A CHILD CASE OF DIFFUSE CUTANEOUS MASTOCYTOSIS]
Yu Hoshino1, Kaoruko Yoshida1, Takafumi Numata1
1Department of Dermatology, Tokyo Medical University.
Arerugi = [Allergy]
|July 13, 2022
Summary
This study details a case of diffuse cutaneous mastocytosis (DCM) in an infant without the common c-KIT mutation. The patient experienced persistent blistering but no severe systemic reactions, highlighting diagnostic challenges.
Area of Science:
- Dermatology
- Pediatrics
- Genetics
Background:
- Cutaneous mastocytosis (CM) typically presents in childhood, often improving before adolescence.
- The D816V c-KIT mutation is found in a significant portion of childhood-onset CM and diffuse cutaneous mastocytosis (DCM) cases.
- Prognosis for childhood-onset DCM is challenging due to variable disease progression, including spontaneous resolution or progression to systemic mastocytosis.
Observation:
- A case report of an 11-month-old male with diffuse cutaneous mastocytosis (DCM) lacking the c-KIT mutation.
- Clinical presentation included dark brown macules, sporadic erythema, and bullous lesions.
- Skin biopsy revealed dermal mast cell infiltration.
Findings:
- The patient received H1 inhibitor treatment and continued to have trunk blistering until age 3.
- No severe systemic symptoms, such as anaphylaxis, were observed.
- This case contributes to understanding DCM in children without the D816V c-KIT mutation.
Implications:
- Highlights the diagnostic difficulty in predicting DCM progression, especially in mutation-negative cases.
- Suggests that some children with DCM may experience a protracted course without severe systemic complications.
- Emphasizes the need for careful monitoring and individualized management strategies for pediatric DCM.
