Hypotrichosis–lymphedema–telangiectasia syndrome

Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss). Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia.[2] The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.[3][4]

Hypotrichosis–lymphedema–telangiectasia syndrome
Other namesHypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome[1]

It is associated with a rare mutation of the transcription factor gene SOX18.[5]

See also

References
  1. "Hypotrichosis-lymphedema-telangiectasia syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 14 March 2019.
  2. Burkhart CN, Adigun C, Burton CS. Chapter 174. Cutaneous Changes in Peripheral Venous and Lymphatic Insufficiency. In: Wolff K, ed. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York: McGraw-Hill; 2012. http://www.accessmedicine.com/content.aspx?aID=56081150. Accessed November 3, 2013.
  3. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  4. http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=766
  5. Downes M, François M, Ferguson C, Parton RG, Koopman P (August 2009). "Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation". Hum. Mol. Genet. 18 (15): 2839–50. doi:10.1093/hmg/ddp219. PMID 19429912.
Classification


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