Medicine:Acrogeria

From HandWiki

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]

Presentation

The most characteristic symptom of acrogeria is thin, atrophic skin with mottled pigmentation and telangiectasia, most severe in the limbs and extremities.[5] This is accompanied by easy bruising, hyperkeratosis, and a loss of subcutaneous fat,[6] which is replaced by connective tissue.[7] Patients have a facies with a pinched face, hollow cheeks, prominent eyes without exophthalmos, a beak-like nose and thin lips.[8] Though the hair and nails are normal in many cases,[9] alopecia and nail dystrophies, such as onychogryphosis and koilonychia, have been reported.[10] Stature is short in some patients[11] and normal in others.[10] The general skeletal structure is unremarkable,[10] but acrogeria results in delayed closure of the cranial sutures, notching of the mandible, and micrognathia;[11] and may also coincide with spina bifida, clubfoot and congenital dislocation of the hips.[7] Sexual development, including the development of secondary sex characteristics, is normal, and so is intelligence.[10] There is no correlation of acrogeria with metabolic, opthamological or cardiovascular disorders, and patients have a normal life expectancy.[10] Similarities between the clinical features of acrogeria and Werner's syndrome have been observed.[12]

See also

References

  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. ↑ 2.0 2.1 Gottron, H. Familiaere Akrogerie. Arch. Derm. Syph. 181: 571-583, 1940.
  3. ↑ "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. 
  4. ↑ "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. 
  5. ↑ "Editorial: Premature ageing syndromes." (in en). BMJ 4 (5943): 489. 30 November 1974. doi:10.1136/bmj.4.5943.489. ISSN 0959-8138. https://dx.doi.org/10.1136/bmj.4.5943.489. 
  6. ↑ Morris, David (May 1957). "Acrogeria". Proceedings of the Royal Society of Medicine 50 (5): 330–331. doi:10.1177/003591575705000510. PMID 19993915. 
  7. ↑ 7.0 7.1 Miteva, L. (30 June 2010). "A case of acrogeria." (in en). European Journal of Pediatric Dermatology 20 (2): 107–110. ISSN 2281-9649. https://ejpd.com/index.php/journal/article/view/671. 
  8. ↑ Maiese, Aniello; La Russa, Raffaele; Fazio, Valentina; De Matteis, Alessandra; Frati, Paola; Fineschi, Vittorio (December 2019). "Sudden death in acrogeria Gottron type". Forensic Science, Medicine and Pathology 15 (4): 667–670. doi:10.1007/s12024-019-00182-7. PMID 31673870. 
  9. ↑ Gottron, H. (December 1940). "Familiäre Akrogerie". Archiv für Dermatologie und Syphilis 181 (5): 571–583. doi:10.1007/BF01828361. 
  10. ↑ 10.0 10.1 10.2 10.3 10.4 Thirumalaiswamy, Aparna; Kharkar, Vidya D; Bhargava, Anmol (October 2023). "Acrogeria: A Rare Congenital Aging Syndrome". Indian Journal of Paediatric Dermatology 24 (4): 307–310. doi:10.4103/ijpd.ijpd_10_23. 
  11. ↑ 11.0 11.1 Nikolova, Silviya Y.; Toneva, Diana H.; Yordanov, Yordan A.; Lazarov, Nikolai E. (2014). "Multiple Wormian bones and their relation with definite pathological conditions in a case of an adult cranium". Anthropologischer Anzeiger 71 (3): 169–190. doi:10.1127/0003-5548/2014/0355. ISSN 0003-5548. PMID 25065115. https://www.jstor.org/stable/24252988. 
  12. ↑ Wells, R S (June 1972). "? Werner's Syndrome ? Acrogeria". Proceedings of the Royal Society of Medicine 65 (6): 525–526. doi:10.1177/003591577206500611. PMID 5035903. 
Classification
External resources

Template:Disorders involving multiple endocrine glands



Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Acrogeria&oldid=4017271"