Acrogeria- gottron type
Synonyms
5
Overview
Acrogeria, Gottron type is a premature aging syndrome. Characteristic signs include fragile, thin skin on the hands and feet. Other parts of the body (e.g., face, forearms, and lower legs) are variably affected. It is generally considered to be a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin. Other symptoms reported in individual cases include small hands and feet, prominent veins on the chest, small stature, small jaw, premature senility, premature hair greying, endocrine disturbances, and cataracts. Currently the cause of this condition is unknown.
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.
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). 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.
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.
Resources
- NIH