Chronic mucocutaneous candidiasis B37.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 03.07.2022

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APECED Syndrome; Candidiasis chronic mucocutaneous; Candidosis chronic mucocutaneous; Candidosis chronic-mucocutaneous; Chronic mucocutaneous candidiasis; (e) APECED syndromes; (e) Chronic mucocutaneous candidiasis disease; (e) CMC; mucocutaneous candidiasis

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Thorpe and Handley, 1929

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Name for a group of rare, chronic, mucocutaneous infections caused by Candida species (CMC), with impaired selective immune response to these pathogens. These are autosomal dominant or autosomal recessive inherited immunodeficiency syndromes that are clinically prominent in early childhood. They are rare.

Systemic Candida infections that can accompany serious systemic diseases (HIV/AIDS, malignant tumors, immunosuppressive or antibiotic long-term therapy) are to be separated.

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CMC with endocrinologic disorders (also referred to as"type I polyglandular autoimmune syndrome"):

CMC with ectodermal dysplasias: Combinations of CMC with malformations of the skin appendages are referred to as APECED (acronym for"Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy ) -.

  • Localized CMC with hyperkeratosis palmaris
  • CMC of familial type (see overview and classification)
  • CMC with interstitial keratitis Okamoto type
  • CMC with triad of keratitis, ichthyosis, deafness.


  • Diffuse CMC with familial spherocytosis.
  • CMC with thymoma


Systemic or localized candididiasis (reactive forms in artificial immunodeficiency or also in intensive care)

  • Candiasis in dental inflammation
  • Systemic candiasis in HIV infection
  • Systemic (or localized) candiasis during treatment with inhaled glucocorticoids
  • Systemic (or localized) candiasis in long-term treatment with broad-spectrum antibiotics.

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Primary forms:

Etiopathogenetically, different autosomal recessive as well as autosomal dominant defects underlie, whose molecular genetic characteristics are partially known. Dendritic cell defects and Th1 cell defects are significant, whereas defects in innate immunity (phagocytosis, migration of neutrophil granulocytes) and humoral immunity play a minor role. Other mutations affect the IL17 signaling pathway.

Detectable mutations include the following:

APECED (autosomal recessive forms).

  • Mutation in the autoimmune regulator gene(AIRE) associated with endocrine gland dysfunction.
  • Mutation in PTPN22 gene associated with autoimmune endocrinopathies and antibody deficiency.
  • Mutation in caspase-associated-recruitment.

Autosomal dominant forms with mutations in STAT (acronym for Signal Transducer and Activator of Transcription. Group of 7 transcription factors known to date that can be induced by interleukins. STAT proteins can interact with a large number of signaling proteins and thus influence various signaling pathways).

Mutations in genes affecting the IL-17 pathway at different reaction points:

  • IL17RA

  • IL17RC

  • IL-17F

  • ACT1

Secondary forms: Mostly consequence of acquired systemic diseases and their therapies (chronic infections, metabolic diseases, malignant tumors, immunosuppressive or cytostatic therapies).

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Mostly in childhood, occasionally also in adulthood.

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Oral, oropharyngeal, vulvovaginal, perianal. Often with nail involvement.

Clinical features
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  • Candidiasis of the oral mucosa, often with involvement of the larynx and esophagus, perlèche, vulvovaginal candidiasis, and intertriginous candididiasis. Partially sharply demarcated, hyperkeratotic or granulomatous lesions on the face, here especially on the lips and eyelids, but also favus-like changes in the capillitium as well as on the acra. Thickened, dystrophic nail plate, reddened, edematous swollen nail bed(Paronychia candidamycetica).
  • Persistent, flat raised, reddish plaques with predominantly periorificial arrangement around nose, mouth, eyes, urethra, vagina, and anus.
  • Frequent non-scarring alopecia universalis.
  • Vitiligo
  • Endocrinologic disorders:
  • Often increased susceptibility to bacterial infections with chronic rhinitis and recurrent pneumonia.
  • With gastrointestinal involvement: diarrhea, melaena.
  • With urogenital involvement: enuresis and hematuria; in boys, often urethral strictures.
  • CMC with interstitial keratitis Okamoto type: Around 5 years of age, bilateral keratoconjunctivitis, vascularization of the cornea with pannus formation, subsequently corneal scarring and development of posterior subcapsular cataracts; most patients go blind between 7 and 9 years of age; later in life (2nd to 3rd decade of life), interstitial pulmonary fibrosis, frequent episodes of spontaneous pneumothorax.
  • CMC with Addison's disease, type I diabetes mellitus, and immunothyroidism (Hashimoto's thyroiditis) see below. Polyendocrinologic syndrome, autoimmunologic.

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Depending on the underlying disease.

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Chronic dermatitis and mucositis. Keratinization disorder. Electron microscopy: reduced number of desmosomes andgap junctions.

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Clinic, mycology, laboratory

Differential diagnosis
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Varies according to the predominant type of underlying disease.

External therapy
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Exteriorscontaining Nystatin(e.g. Candio-hermal soft paste/cream, Nystatin dequalinium chloride cream).

Internal therapy
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In difficult protracted cases fluconazole (e.g. Diflucan) p.o. or i.v. 50-100 mg/day. Treatment or support of the immunological defect. Note: Fluconazole is the best tolerated systemic antifungal.

Alternative: Itraconazole p.o. (e.g. Sempera) 100 mg/day for 2-4 weeks (interval therapy possible!).

In case of resistance: voriconazole or posaconazole.

In children: ketoconazole 1 time/day 2.5-5 mg/kg bw.

Adjuvant measures: in case of high bacterial counts in the stool or recurrent courses: 0.5-1.0 million IU nystatin p.o. 3 times/day or 100 mg amphotericin B as a suspension or tablet 4 times/day.

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Almost always recurrent course.

Remark: Complete eradication is usually not achievable. Thus, a long-term (possibly also lifelong) antimycotic treatment(Fluconazole 100-200mg; supplementary or alternatively polyenantimycotics such as: Nystatin or Amphotericin B) will be necessary.

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  1. Coleman R, Hay RJ (1997) Chronic mucocutaneous candidosis associated with hypothyroidism: a distinct syndrome? Br J Dermatol. 136: 24-29
  2. Kirkpatrick CH et al (1989) Chronic mucocutaneous candidiasis. Eur. J. Clin Microbiol Infect Dis 8: 448-456
  3. Lingelbach A et al (2003) Chronic mucocutaneous candidosis with severe esophageal stricture. Mycoses 46:S15-18
  4. Okada S et al(2017) CMCD: Chronic Mucocutaneous Candidiasis Disease.
    Nihon Rinsho Meneki Gakkai Kaishi 40:109-117.
  5. Okamoto GA, Hall JG, Ochs H et al (1977) New syndrome of chronic mucocutaneous candidiasis. Birth Def Orig Art Ser XIII(3B): 117-125
  6. Seebacher C et al (2006) Candidosis of the skin. J Dtsch Dermatol Ges 4: 591-596
  7. Urban MD, Schosser R, Spohn W et al (1991) New clinical aspects of hereditary mucoepithelial dysplasia. At J Med Genet 39: 338-341
  8. Witkop CJ Jr, White JG, King RA et al (1979) Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. At J Hum Genet 31: 414-427
  9. Yamazaki Y et al(2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. J Immunol 193:4880-4887
  10. Zuccarello D et al (2002) Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis. J Med Genet 39: 671-675


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Last updated on: 03.07.2022