Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Chronic mucocutaneous candidosis

Orpha number ORPHA1334
Synonym(s) CMC
Chronic mucocutaneous candidiasis
Prevalence Unknown
  • Autosomal dominant
  • Autosomal recessive
  • Sporadic
Age of onset Neonatal/infancy
  • B37.2
  • C0006845
  • D002178
  • 10009007
  • 234568006


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

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
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.