Acrogeria
| Acrogeria | |
|---|---|
|
premature aging of the skin on the back of the hand | |
| Classification and external resources | |
| OMIM | 201200 |
Acrogeria (also known as "Gottron's syndrome"[1]) is a cutaneous condition characterized by premature aging, more especially 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, among which are: pangeria (Werner's syndrome), progeria (Hutchinson–Gilford's syndrome) and acrogeria (Gottron's syndrome) and was characterized in 1940.[2] Onset is 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]
It is believed that Gottron syndrome may affect more females than males. Approximately forty cases have been reported in the medical literature, since the discovery of the disorder.
Signs and symptoms
This disorder is characterized by a reduction and loss of subcutaneous fat and collagen of the hands and feet, above all. It can be defined it as a mild, nonprogressive, congenital form of premature skin senility due to the disappearance of the fatty tissue directly under the skin.
More precisely, skin lesions deal with large, fixed, geographic and symmetrical fine scaly recessive erythematous plaques distributed over the dorsal side of distal extremities. Skin lesions can be associated with osteoarticular alterations.
Other outcomes and observations may include abnormally small hands and feet with unusually prominent veins on the upper trunk (chest), short stature, and, sometimes, abnormally small jaw (micrognathia). Most of the cases analyzed show atrophy of the skin at the tip of the nose, which gives a sculptural appearance. The nails may be dystrophic or thick, but, most of the time, they are normal.
In the skin histopathology, there is atrophy of the dermis and subcutaneum. The collagen fibers are loose and dispersed, and the elastic fibers are always fragmented. However, the epidermis is not affected.
Although some patients present clinical features similar to those of progeria and metageria, they do not usually show generalized atherosclerosis. Therefore, they do not usually have premature myocardic or coronary disease.
Causes
The etiology of acrogeria is still not well determined. This disorder is thought to be inherited as an autosomal recessive genetic trait. However, the mode of genetic inheritance is not accurately known. It has been considered autosomal dominant and autosomal recessive, though most reported cases own a positive family background.
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] In the fibroblast culture, a reduction of RNA messenger cells in collagen types I and II was found, as well as reduced life expectancy of the fibroblasts most prematurely showing morphological alterations typical of aging. This seems perfectly compatible with the patients' aged phenotype.
Issues raised
X-ray applications on most cases have brought about little outcome in most of the published case reports. As a consequence, a certain number of authors consider acrogeria mainly as a cutaneous affection, but the bone alterations are well described as part of the syndrome.
For patients who show typical alterations of acrogeria and metageria, in a concomitant way, the single term of "Acrometageria" has been proposed, which can refer to the widest spectrum of premature ageing syndromes. However, this concept is still not generally accepted in the medical literature.
As these are extremely rare syndromes, all sharing an aspect of aging skin similar to progeria, they are also called progeroid syndromes, from time to time.
Treatment
There is currently no specific treatment available for either of these so-called progeroid syndromes. With this in mind, what is most important when making a differential diagnosis with them is based on the prognosis, which appears to be far better in acrogeria.
Epidemiology
Acrogeria is extremely rare, with only about 40 cases having been reported in the medical literature, since 1941.
History
Acrogeria was originally described by Gottron in 1941, when he noticed premature cutaneous aging localized on the hands and feet in two brothers, which were present ever since birth.[2] From that time, various cases have been published, most in the European literature and predominantly affecting women. Most patients were of short stature, in spite of a few being of normal height.
See also
References
- 1 2 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- 1 2 Gottron, H. Familiaere Akrogerie. Arch. Derm. Syph. 181: 571-583, 1940.
- ↑ 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.
- ↑ Pope FM, Narcisi P, Nicholls AC, et al. (1996). "COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture". Br J Dermatol. 135: 163–181. doi:10.1046/j.1365-2133.1996.d01-971.x.
External links
- Familial acrogeria in a brother and sister
- A case of acrogeria - A rare aging syndrome
- Discussion forum to share one's experience with acrogeria