Diseases title

Bullous diffuse cutaneous mastocytosis )

Test molecule
Orpha Number: 280785
Synonym(s):
Bullous DCM

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.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.
source: Orphanet