Hereditary mucoepithelial dysplasia
| Hereditary mucoepithelial dysplasia | |
|---|---|
[[File: Structure and location of desmosomes  Gap junctions, connecting the interior of two cells |250px|alt=|Malformation of desmosomes and gap junctions are caused in this condition]] | |
| Synonyms | Urban-Schosser-Spohn syndrome, HMD |
| Pronounce | |
| Field | |
| Symptoms | |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | |
| Risks | |
| Diagnosis | |
| Differential diagnosis | |
| Prevention | |
| Treatment | |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Hereditary mucoepithelial dysplasia (HMD), or simply mucoepithelial dysplasia,[1][2] is a rare autosomal dominant multiepithelial disorder causing systemic maldevelopment of the epithelia and mucous membranes that line the surface of tissues and structures throughout the body, particularly affecting systems affiliated with mucosa, which includes the respiratory, digestive, urinary, reproductive and immune systems.[2][3][4][5][6] The disorder is attributed to improper formation of desmosomes and gap junctions, which prevents proper cornification of the epithelial layer of the skin.[5][7]
Pathophysiology[edit | edit source]
Desmosomes are extracellular protein structures responsible for cellular adhesion, whereby cells of the same type are held closely together.[8] Gap junctions are specialized channels located within the cell membrane of many animal cell types, which serve as gateways that connect the cytoplasmic interior of two adjacent cells, allowing the passage of small molecules such as ions, nucleotides, second messengers and others.[9][10] The movement and exchange of small molecules between cells is an important part of intracellular communication processes like cell signaling.[11]
Diagnosis[edit | edit source]
The diagnosis of HMD is based on the symptoms and other skin and eye disorders need to be excluded.
Treatment[edit | edit source]
Treatment typically focuses on individual symptoms of the condition.
References[edit | edit source]
- ↑ Online Mendelian Inheritance in Man (OMIM) 158310
- ↑ 2.0 2.1 , Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene, Invest Ophthalmol Vis Sci, Vol. 46(Issue: 2), pp. 420–426, DOI: 10.1167/iovs.04-0804, PMID: 15671264, Full text,
- ↑ Putran J, S. C., Abnormal cervical smear in hereditary mucoepithelial dysplasia: a case report, Journal of Lower Genital Tract Disease, Vol. 11(Issue: 4), pp. 274–275, DOI: 10.1097/LGT.0b013e31803c4de0, PMID: 17917573,
- ↑ , Hereditary mucoepithelial dysplasia. Case report and review of the literature, Journal of the American Academy of Dermatology, Vol. 21(Issue: 2 Pt 2), pp. 351–357, DOI: 10.1016/S0190-9622(89)80033-7, PMID: 2666466,
- ↑ 5.0 5.1 , Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation, American Journal of Human Genetics, Vol. 31(Issue: 4), pp. 414–427, PMID: 484550, PMC: 1685894,
- ↑ , Hereditary mucoepithelial dysplasia, Pediatric Dermatology, Vol. 11(Issue: 2), pp. 133–138, DOI: 10.1111/j.1525-1470.1994.tb00567.x, PMID: 8041653,
- ↑ , Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation, Birth Defects Original Article Series, 1982, Vol. 18(Issue: 6), pp. 493–511, PMID: 7171771,
- ↑ , Structure and function of desmosomal proteins and their role in development and disease, Cellular and Molecular Life Sciences, Vol. 60(Issue: 9), pp. 1872–1890, DOI: 10.1007/s00018-003-3050-7, PMID: 14523549,
- ↑ , The effects of connexin phosphorylation on gap junctional communication, The International Journal of Biochemistry & Cell Biology, Vol. 36(Issue: 7), pp. 1171–1186, DOI: 10.1016/S1357-2725(03)00264-4, PMID: 15109565, PMC: 2878204,
- ↑ , Regulation of gap junctions by phosphorylation of connexins, Archives of Biochemistry and Biophysics, Vol. 384(Issue: 2), pp. 205–215, DOI: 10.1006/abbi.2000.2131, PMID: 11368307,
- ↑ , Familial Occurrence of Letterer-Siwe Disease, Archives of Disease in Childhood, Vol. 47(Issue: 251), pp. 122–125, DOI: 10.1136/adc.47.251.122, PMID: 5018627, PMC: 1647995,
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
|
This article is a genetic disorder stub. You can help WikiMD by expanding it!
This article is a dermatology stub. You can help WikiMD by expanding it!
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
