chronic mucocutaneous candidiasis

The signs and symptoms of this condition are thickened skin, skin ulcer, dyspareunia, endocardium abnormality, vision problems, hepatitis, seizures, bloody urine, and meningitis.{{Cite web |title=Candidiasis familial chronic mucocutaneous, autosomal recessive {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/1077/index |url-status=dead |archive-url=https://web.archive.org/web/20180417024444/https://rarediseases.info.nih.gov/diseases/1077/index |archive-date=2018-04-17 |access-date=2017-06-09 |website=rarediseases.info.nih.gov |language=en}}

There are a number of disorders associated with chronic mucocutaneous candidiasis including endocrine dysfunctions, vitiligo, malabsorption syndromes, neoplasms, and others. In most patients, chronic mucocutaneous candidiasis is correlated to abnormalities in cell-mediated immunity (T-lymphocyte mediated response){{citation needed|date=January 2021}}. The T-lymphocytes fail to produce the necessary cytokines that are required for immunity against Candida. Current effective treatments include anti-fungal drugs and, for long-term remissions, restoration of cellular immunity.{{Cite journal |last=Kirkpatrick |first=Charles H. |date=February 2001 |title=Chronic mucocutaneous candidiasis |journal=The Pediatric Infectious Disease Journal |volume=20 |issue=2 |pages=197–206 |doi=10.1097/00006454-200102000-00017 |pmid=11224843}}

Patients with autosomal-dominant mucocutaneous candidiasis may be at risk for epidermoid esophageal cancer due to the nitrosamine compounds produced by chronic candida infections.{{citation needed|date=January 2021}}Rosa DD, Pasqualotto AC, Denning DW. Chronic mucocutaneous candidiasis and oesophageal cancer. Med Mycol. 2008 Feb;46(1):85-91. doi: 10.1080/13693780701616023. PMID 17852718.

Chronic mucocutaneous candidiasis can be inherited either autosomal dominant or autosomal recessive.{{Cite web |last=RESERVED |first=INSERM US14 -- ALL RIGHTS |title=Orphanet: Chronic mucocutaneous candidiasis |url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 |url-status=live |archive-url=https://web.archive.org/web/20170714032020/http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1334 |archive-date=2017-07-14 |access-date=2017-06-09 |website=www.orpha.net |language=en}} There are 9 types of this condition with the first CANDF1 being located at 2p22.3-p21 (cytogenetically).{{Cite web |title=OMIM Entry - % 114580 - CANDIDIASIS, FAMILIAL, 1; CANDF1 |url=https://omim.org/entry/114580 |url-status=live |archive-url=https://web.archive.org/web/20210331192558/https://omim.org/entry/114580 |archive-date=31 March 2021 |access-date=9 June 2017 |website=omim.org |language=en-us}}

The mechanism the human immune system has is normally to fight an infection (like Candida). Initially, Th17 cells are made by the immune system, which in turn produces interleukin-17 (IL-17). This induces inflammation and white blood cells confront infection.{{Cite web |last=Reference |first=Genetics Home |title=familial candidiasis |url=https://ghr.nlm.nih.gov/condition/familial-candidiasis#resources |url-status=live |archive-url=https://web.archive.org/web/20170627204142/https://ghr.nlm.nih.gov/condition/familial-candidiasis#resources |archive-date=2017-06-27 |access-date=2017-06-09 |website=Genetics Home Reference |language=en}}

Chronic mucocutaneous candidiasis mutations affect IL-17 by inhibiting its pathway. This in turn affects the human immune system's ability to fight infection, in total there are 9 possible types of this condition.{{Cite journal |last=Smeekens |first=Sanne P |last2=van de Veerdonk |first2=Frank L |last3=Kullberg |first3=Bart Jan |last4=Netea |first4=Mihai G |date=2013 |title=Genetic susceptibility to Candida infections |journal=EMBO Molecular Medicine |volume=5 |issue=6 |pages=805–813 |doi=10.1002/emmm.201201678 |issn=1757-4676 |pmc=3779444 |pmid=23629947}}

File:Stat1 stucture.png|Stat1(CANDF7 mutation on Chromosome 2q32)

File:Chromosome 2.jpeg|CHR 2

Chronic mucocutaneous candidiasis can be diagnosed in an affected individual via the following methods/tests:{{Cite web |title=Familial chronic mucocutaneous candidiasis - Conditions - GTR - NCBI |url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0341024/ |url-status=live |archive-url=https://web.archive.org/web/20180526231521/https://www.ncbi.nlm.nih.gov/gtr/conditions/C0341024/ |archive-date=2018-05-26 |access-date=2017-06-09 |website=www.ncbi.nlm.nih.gov |language=en}}

{{columns-list|colwidth=30em|

• Thyroid function test
• Liver function test
• Cellular immunity test
• Skin biopsy
• Genetic testing

}}

File:Fluconazole-from-xtal-3D-balls.png

Management for an individual with chronic mucocutaneous candidiasis consists of the following (relapse occurs once treatment is ceased, in many cases):{{Cite book |last=Teng |first=Joyce |url=https://books.google.com/books?id=m768DQAAQBAJ&q=chronic+mucocutaneous+candidiasis+treatment&pg=PA265 |title=Therapy in Pediatric Dermatology: Management of Pediatric Skin Disease |last2=Marqueling |first2=Ann L. |last3=Benjamin |first3=Latanya |date=2016-12-15 |publisher=Springer |isbn=9783319436302 |page=265 |language=en |access-date=2020-12-09 |archive-url=https://web.archive.org/web/20230112091729/https://books.google.com/books?id=m768DQAAQBAJ&q=chronic+mucocutaneous+candidiasis+treatment&pg=PA265 |archive-date=2023-01-12 |url-status=live}}

• Systemic anti-fungal therapy (e.g., Fluconazole)
• Transfer factor
• Combination therapy
• Screening (annually)

• Candidiasis
• List of cutaneous conditions

{{note|Alpha}} Indicates 9 references to specific, numbered pages in the Online Mendelian Inheritance in Man database.

{{Reflist|32em}}

• {{Cite book |last=Kauffman |first=Carol A. |url=https://books.google.com/books?id=8IySvRT52KkC&q=Chronic+mucocutaneous+candidiasis&pg=PA175 |title=Essentials of Clinical Mycology |last2=Pappas |first2=Peter G. |last3=Sobel |first3=Jack D. |last4=Dismukes |first4=William E. |date=2011 |publisher=Springer Science & Business Media |isbn=9781441966407 |language=en |access-date=9 June 2017}}
• {{Cite book |last=Ostler |first=H. Bruce |url=https://books.google.com/books?id=jewuK_B-3bcC&q=Chronic+mucocutaneous+candidiasis&pg=PA339 |title=Diseases of the Eye and Skin: A Color Atlas |date=2004 |publisher=Lippincott Williams & Wilkins |isbn=9780781749992 |language=en |access-date=9 June 2017}}

{{Medical resources

| DiseasesDB =

| ICD10 = {{ICD10|B37.0}}, {{ICD10|B37.1}} {{ICD10|B37.2}}, {{ICD10|B37.3}}, {{ICD10|B37.4}}, {{ICD10|B37.8}}

| ICD9 =

| ICDO =

| OMIM = 607644

| OMIM_mult = {{OMIM|114580||none}} {{OMIM|212050||none}}

| MedlinePlus =

| eMedicineSubj = derm

| eMedicineTopic = 569

| MeshID = D002178

| Orphanet = 1334

}}

{{Commons}}

{{Scholia|topic}}

{{Mycoses}}

{{Medicine}}

Category:Mycosis-related cutaneous conditions

Category:Defects in innate immunity

Category:IUIS-PID table 3 immunodeficiencies