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Bullous diffuse cutaneous mastocytosis
Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
ORPHA:280785Classification level: Subtype of disorder
- Bullous DCM
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: Q82.2
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
BDCM accounts for the majority of cases of DCM, with round 40 cases described in the literature to date.
Onset usually occurs during early infancy or during the neonatal period.
Mutations in the KIT gene (4q11-q12) have been detected in patients with BDCM.
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