HistoryThis section has been translated automatically.
Thorpe and Handley, 1929
DefinitionThis section has been translated automatically.
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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ClassificationThis section has been translated automatically.
CMC with endocrinologic disorders (also referred to as"type I polyglandular autoimmune syndrome"):
- Hypoparathyroidism (approx. 60-80%)
- Hypothyroidism (about 3%)
- Adrenal insufficiency or failure (approx. 60-75%)
- Chronic lymphocytic thyroiditis
- Ovarian insufficiency (ca. 25%)
- Diabetes mellitus (approx. 12%)
- Growth hormone synthesis disorders.
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.
EtiopathogenesisThis section has been translated automatically.
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 the STAT1 gene
- Mutations in the STAT3 gene(hyper IgE syndrome)
- Mutations in the STAT3 gene ("DiGeorge syndrome" - see below 22q11.2 deletion syndrome)
Mutations in genes affecting the IL-17 pathway at different reaction points:
Secondary forms: Mostly consequence of acquired systemic diseases and their therapies (chronic infections, metabolic diseases, malignant tumors, immunosuppressive or cytostatic therapies).
ManifestationThis section has been translated automatically.
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
- 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.
- 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.
LaboratoryThis section has been translated automatically.
HistologyThis section has been translated automatically.
Chronic dermatitis and mucositis. Keratinization disorder. Electron microscopy: reduced number of desmosomes andgap junctions.
DiagnosisThis section has been translated automatically.
Differential diagnosisThis section has been translated automatically.
Varies according to the predominant type of underlying disease.
External therapyThis section has been translated automatically.
Internal therapyThis section has been translated automatically.
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 children: ketoconazole 1 time/day 2.5-5 mg/kg bw.
Progression/forecastThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Coleman R, Hay RJ (1997) Chronic mucocutaneous candidosis associated with hypothyroidism: a distinct syndrome? Br J Dermatol. 136: 24-29
- Kirkpatrick CH et al (1989) Chronic mucocutaneous candidiasis. Eur. J. Clin Microbiol Infect Dis 8: 448-456
- Lingelbach A et al (2003) Chronic mucocutaneous candidosis with severe esophageal stricture. Mycoses 46:S15-18
- Okada S et al(2017) CMCD: Chronic Mucocutaneous Candidiasis Disease.
Nihon Rinsho Meneki Gakkai Kaishi 40:109-117.
- Okamoto GA, Hall JG, Ochs H et al (1977) New syndrome of chronic mucocutaneous candidiasis. Birth Def Orig Art Ser XIII(3B): 117-125
- Seebacher C et al (2006) Candidosis of the skin. J Dtsch Dermatol Ges 4: 591-596
- Urban MD, Schosser R, Spohn W et al (1991) New clinical aspects of hereditary mucoepithelial dysplasia. At J Med Genet 39: 338-341
- 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
- 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
- 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
Incoming links (26)Aire gene; Amphotericin b; Apeced syndrome; Candida granuloma; Candidiasis, chronic mucocutaneous; Chronic oral candidiasis; Cmc; Cmc with ectodermal dysplasia; Diffuse cmc family type; Diffuse cmc with familial spherocytosis; ... Show all
Outgoing links (30)Addison's disease; Aire gene; Alopecia (overview); Amphotericin b; Candida paronychia; Candidiasis of the oral mucosa; Candidiasis vulvovaginale; Candidoses; Candidosis intertriginous; Chronic lymphocytic thyroiditis; ... Show all
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.