Medicine:Acrogeria
| Acrogeria | |
|---|---|
| Other names | Acrogeria, Gottron type, Gottron's syndrome[1] |
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| Fibers of Collagen Type I - TEM | |
| Specialty | Dermatology |
Acrogeria (Gottron's syndrome) is a skin condition characterized by premature aging, typically in the form of unusually fragile, thin skin on the hands and feet (distal extremities).[1] The prefix "acro" stems from the Greek akros which alludes to "extremity, tip" while the suffix "geria" comes from the Greek gerôn which means "elder".[citation needed]
This is one of the classic congenital premature aging syndromes, occurring early in life, others being pangeria (Werner's syndrome) and progeria (Hutchinson–Gilford's syndrome), and was characterized in 1940.[2] Acrogeria was originally described by Gottron in 1941, when he noticed premature cutaneous aging localized on the hands and feet in two brothers. The problem had been present since birth.[2]
Onset is often in early childhood, it progresses over the next few years and then remains stable over time with morphology, colour and site remaining constant. A bruising tendency has been observed.[3] Mutations in the COL3A1 gene, located at chromosome 2q31–q32, have been reported in varied phenotypes, including acrogeria and vascular rupture in Ehlers-Danlos' syndrome (more especially type IV).[4]
See also
- Hutchinson–Gilford syndrome
- List of cutaneous conditions
References
- ↑ 1.0 1.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ 2.0 2.1 Gottron, H. Familiaere Akrogerie. Arch. Derm. Syph. 181: 571-583, 1940.
- ↑ "Acrogeria of the Gottron type in a mother and son". Eur J Dermatol 10 (1): 36–40. 2000. PMID 10694296. http://www.john-libbey-eurotext.fr/medline.md?issn=1167-1122&vol=10&iss=1&page=36.
- ↑ "COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture". Br J Dermatol 135 (2): 163–181. 1996. doi:10.1046/j.1365-2133.1996.d01-971.x. PMID 8881656.
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