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Bullous diffuse cutaneous mastocytosis

Disease definition

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:280785

Classification level: Subtype of disorder
  • Synonym(s):
    • Bullous DCM
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.2
  • ICD-11: 2A21.1Y
  • OMIM: -
  • UMLS: C5546764
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

BDCM accounts for the majority of cases of DCM, with round 40 cases described in the literature to date.

Clinical description

Onset usually occurs during early infancy or during the neonatal period.

Etiology

Mutations in the KIT gene (4q11-q12) have been detected in patients with BDCM.

Expert reviewer(s):  Pr A.P. [Arnold] ORANJE - Last update: June 2013

  A summary on this disease is available in Español (2013) Nederlands (2013)

Detailed information

General public

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.