Acrogeria

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] 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".

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. Th 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

References

  1. 1 2 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. 1 2 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. PMID 8881656.
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