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Pseudoxanthomatous diffuse cutaneous mastocytosis
Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
ORPHA:280794
Classification 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
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.
Last update: June 2013 - Expert reviewer(s): Pr A.P. [Arnold] ORANJE
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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