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Chronic mucocutaneous candidosis

Orpha number ORPHA1334
Synonym(s) CMC
Chronic mucocutaneous candidiasis
Prevalence Unknown
Inheritance
  • Autosomal dominant
  • Autosomal recessive
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • B37.2
OMIM
UMLS
  • C0006845
MeSH
  • D002178
MedDRA
  • 10009007
SNOMED CT
  • 234568006

Summary

Chronic Mucocutaneous Candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterised by persistent and/or recurrent infections of skin, nails and mucous membranes, caused by organisms of the genus Candida, mainly C. Albicans. An extended Italian family with infantile onset of manifestations restricted to hand and foot nails, associated with low ICAM-1 serum concentrations has been described. The patients presented nail dystrophy with hyperkeratosis and dark and thick nails, involving all the nails of hands and feet. The patients were infected by different kinds of the genus Candida, pointing to inhability of the immune system to respond to the antigenic stimulus specific against Candida. The pedigree suggested an autosomal dominant inheritance with incomplete penetrance. The CMC locus was assigned to the pericentromeric region of chromosome 11p12-q12.1. The CMC diagnosis is currently performed through the microbiological analysis of nail specimens obtained by cutting and scarifing the lesional sites; exclusion of coexisting endocrine or autoimmune disorders; ICAM-1 low serum levels. Treatment with topic and systemic antimycotic drugs results in temporary recovery, but is unable to reach complete remission. Promishing results were obtained with Amphotericine B.

Expert reviewer(s)

  • Dr Daniela ZUCCARELLO

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