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Hereditary mucoepithelial dysplasia

Field	Value
synonyms	Urban-Schosser-Spohn syndrome, HMD
name	Hereditary mucoepithelial dysplasia
image	{{multiple image
align	right
image1	desmosome cell junction en.svg
width1	165
caption1	Structure and location of desmosomes
image2	Gap_cell_junction-en.svg
width2	190
caption2	Gap junctions, connecting the interior of two cells
caption	Malformation of desmosomes and gap junctions are caused in this condition

Hereditary mucoepithelial dysplasia (HMD), or simply mucoepithelial dysplasia, 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. The disorder is attributed to improper formation of desmosomes and gap junctions, which prevents proper cornification of the epithelial layer of the skin.

Pathophysiology

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

Diagnosis

Treatment

References

{{OMIM. 158310
(October 2007). "Abnormal cervical smear in hereditary mucoepithelial dysplasia: a case report". Journal of Lower Genital Tract Disease.
(Aug 1989). "Hereditary mucoepithelial dysplasia. Case report and review of the literature". Journal of the American Academy of Dermatology.
(Jul 1979). "Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation". American Journal of Human Genetics.
(Jun 1994). "Hereditary mucoepithelial dysplasia". Pediatric Dermatology.
(1982). "Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation". Birth Defects Original Article Series.
(Sep 2003). "Structure and function of desmosomal proteins and their role in development and disease". Cellular and Molecular Life Sciences.
(Jul 2004). "The effects of connexin phosphorylation on gap junctional communication". The International Journal of Biochemistry & Cell Biology.
(Dec 2000). "Regulation of gap junctions by phosphorylation of connexins". Archives of Biochemistry and Biophysics.
(February 1972). "Familial Occurrence of Letterer-Siwe Disease". Archives of Disease in Childhood.

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autosomal-dominant-disorders rare-diseases genetic-disorders-with-omim-but-no-gene

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