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Acrogeria

From Wikipedia, the free encyclopedia
Acrogeria
Other namesAcrogeria, Gottron type, Gottron's syndrome[1]
Fibers of Collagen Type I - TEM
SpecialtyDermatology

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]

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

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References

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  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ a b Gottron, H. Familiaere Akrogerie. Arch. Derm. Syph. 181: 571-583, 1940.
  3. ^ Blaszczyk M, Depaepe A, Nuytinck L, Glinska-Ferenz M, Jablonska S (2000). "Acrogeria of the Gottron type in a mother and son". Eur J Dermatol. 10 (1): 36–40. PMID 10694296.
  4. ^ Pope FM, Narcisi P, Nicholls AC, et al. (1996). "COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture". Br J Dermatol. 135 (2): 163–181. doi:10.1046/j.1365-2133.1996.d01-971.x (inactive 2024-07-15). PMID 8881656.{{cite journal}}: CS1 maint: DOI inactive as of July 2024 (link)
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