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Pseudoxanthomatous diffuse cutaneous mastocytosis

Disease definition

Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.

ORPHA:280794

Classification level: Subtype of disorder
  • Synonym(s):
    • Infiltrative small vesicular DCM
    • Infiltrative small vesicular diffuse cutaneous mastocytosis
    • Pseudoxanthomatous DCM
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.2
  • ICD-11: 2A21.1Y
  • OMIM: -
  • UMLS: C5679949
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Only a small number of cases (around 10) of PDCM have been reported in the literature to date.

Clinical description

Onset most commonly occurs in early infancy with small vesicles and pseudoxanthomatous lesions developing after puberty.

Etiology

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

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.