Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Search for a rare disease
Bullous diffuse cutaneous mastocytosis
Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
ORPHA:280785
Classification level: Subtype of disorder
- Bullous DCM
Prevalence: <1 / 1 000 000
Inheritance: Not applicable
Age of onset: Infancy, Neonatal
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.
Last update: June 2013 - Expert reviewer(s): Pr A.P. [Arnold] ORANJE
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Guidelines
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (46)
- Clinical trial(s) (2)
- Biobank(s) (9)
- Registry(ies) (55)
- Network of experts (11)
Newborn screening