Hereditary mucoepithelial dysplasia explained

Synonyms:Urban-Schosser-Spohn syndrome, HMD
Hereditary mucoepithelial dysplasia

Hereditary mucoepithelial dysplasia (HMD), or simply mucoepithelial dysplasia,[1] 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.[1] [2] [3] [4] [5] The disorder is attributed to improper formation of desmosomes and gap junctions, which prevents proper cornification of the epithelial layer of the skin.[4] [6]

Pathophysiology

Desmosomes are extracellular protein structures responsible for cellular adhesion, whereby cells of the same type are held closely together.[7] 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.[8] [9] The movement and exchange of small molecules between cells is an important part of intracellular communication processes like cell signaling.[10]

Notes and References

  1. Bredrup . C.. Knappskog . P. M.. Majewski . J.. Rødahl . E.. Boman . H.. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci. February 2005. 46. 2. 420–426. 15671264. 10.1167/iovs.04-0804. free.
  2. 10.1097/LGT.0b013e31803c4de0. Putran J. October 2007 . S. C.. Sowden . C.. Abnormal cervical smear in hereditary mucoepithelial dysplasia: a case report. 11. 4. 274–275. 1089-2591. 17917573. Journal of Lower Genital Tract Disease.
  3. 2666466. Scheman. Aug 1989 . A.. Ray . D.. Witkop Jr . C.. Dahl . M. . Hereditary mucoepithelial dysplasia. Case report and review of the literature. 21. 2 Pt 2. 351–357. 0190-9622. Journal of the American Academy of Dermatology. 10.1016/S0190-9622(89)80033-7.
  4. 484550. Witkop Jr. Jul 1979 . C. J.. White . J. G.. King . R. A.. Dahl . M. V.. Young . W. G.. Sauk Jr . J. J. . Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 31. 4. 414–427. 0002-9297. 1685894. American Journal of Human Genetics.
  5. 8041653. Jun 1994 . Rogers . M.. Kourt . G.. Cameron . A.. Hereditary mucoepithelial dysplasia. 11. 2. 133–138. 0736-8046. Pediatric Dermatology. 10.1111/j.1525-1470.1994.tb00567.x. 39481017 .
  6. 7171771 . Witkop Jr . 1982 . C. J. . White . J. G. . Waring . G. O. . Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation . 18 . 6 . 493–511 . 0547-6844 . Birth Defects Original Article Series .
  7. Huber . O. . Structure and function of desmosomal proteins and their role in development and disease . Cellular and Molecular Life Sciences . 60 . 9 . 1872–1890 . Sep 2003 . 1420-682X . 14523549 . 10.1007/s00018-003-3050-7. 11557417 . 11138567 .
  8. Lampe . P. D. . Lau . A. F.. The effects of connexin phosphorylation on gap junctional communication. The International Journal of Biochemistry & Cell Biology. 36. 7. 1171–1186. Jul 2004. 1357-2725. 15109565. 2878204. Free full text. 10.1016/S1357-2725(03)00264-4.
  9. 10.1006/abbi.2000.2131. Lampe. Dec 2000 . P.. Lau . A. F.. Regulation of gap junctions by phosphorylation of connexins. 384. 2. 205–215. 0003-9861. 11368307. Archives of Biochemistry and Biophysics.
  10. 10.1136/adc.47.251.122 . February 1972 . Freundlich . Archives of Disease in Childhood . E. . Amit . S. . Montag . Y. . Suprun . H. . Nevo . S. . Familial Occurrence of Letterer-Siwe Disease . 47 . 251 . 122–125 . 5018627 . 1647995 . Free full text .

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