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. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.
It is associated with a rare mutation of the transcription factor gene ''
SOX18
Transcription factor SOX-18 is a protein that in humans is encoded by the ''SOX18'' gene.
Function
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development ...
''.
See also
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HOPP syndrome Hopp is a surname. Notable people with the surname include:
* Ceci Hopp (born c. 1963), American track and field athlete
* Dietmar Hopp (born 1940), German entrepreneur
* Doris Hopp (1930–1998), Swedish brothel madam
* Hanns Hopp (1890–1971), ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
References
External links
Genodermatoses
Syndromes
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