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Pseudoxanthomatous diffuse cutaneous mastocytosis
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:280794Classification level: Subtype of disorder
- 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
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Only a small number of cases (around 10) of PDCM have been reported in the literature to date.
Onset most commonly occurs in early infancy with small vesicles and pseudoxanthomatous lesions developing after puberty.
Mutations in the KIT gene (4q11-q12) have been detected in patients with DCM.
Article for general public
- Emergency guidelines
- Français (2020, pdf)