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Gottron syndrome (GS) is an extremely rare inherited disorder characterized by the appearance of premature aging (progeria), especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). GS is described as a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin (subcutaneous atrophy). Other findings may include abnormally small hands and feet with unusually prominent veins on the chest; small stature; and/or abnormally small jaw (micrognathia).
Other characteristics that develop later in life may include premature senility, endocrine disturbances and cataracts. Gottron syndrome is thought to be inherited as an autosomal recessive genetic trait. Only about 40 cases have been reported in the medical literature.
There is some debate in the literature regarding a possible relationship between Gottron syndrome and Ehlers-Danlos syndrome, type IV. Some clinicians believe the terms are synonymous. Others disagree.
From infancy on, children with Gottron syndrome appear older than their actual age. The skin is unusually thin, taut, and parchment-like on the hands and feet (distal extremities). The hands and feet remain abnormally small into adulthood. The veins on the chest are very visible and prominent due to diminished amounts of fat under the skin (subcutaneous fat).
Gottron syndrome is a rare disorder that appears to be inherited as an autosomal recessive genetic trait.
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
It is important to note that notwithstanding that the older reports were compatible with recessive mode of inheritance, recent reports strongly suggest autosomal dominant inheritance.
It is believed that Gottron syndrome may affect more females than males. Approximately forty cases have been reported in the medical literature.
Symptoms of the following disorders can be similar to those of Gottron syndrome. Comparisons may be useful for a differential diagnosis:
Hutchinson-Gilford progeria syndrome is a severe form of progeria (premature aging). The symptoms include rapid aging and very short stature. Children with this syndrome have characteristic facial features that may include a relatively large head, small face, beak-like nose, and a receding chin. The eyes may protrude and have a bluish tint. Other symptoms may include dry, thin, and wrinkled skin that appears aged. Children with Hutchinson-Gilford syndrome usually have normal intelligence, but their life span is shortened. (For more information on this disorder, choose "Hutchinson-Gilford Progeria as your search term in the Rare Disease Database.)
Werner syndrome is a rare progressive disorder that is characterized by the appearance of unusually accelerated aging (progeria). Although the disorder is typically recognized by the third or fourth decades of life, certain characteristic findings are present in childhood, adolescence, and early adulthood.
Children with Werner syndrome have an abnormally slow growth rate, and growth ends at puberty. As a result, affected individuals have unusually short stature and low weight even relative to height. By age 25, those with the disorder typically experience early graying (canities) and premature loss of scalp hair (alopecia). As the disease progresses, additional abnormalities include loss of the layer of fat beneath the skin (subcutaneous adipose tissue); severe wasting (atrophy) of muscle tissue in certain areas of the body; and degenerative skin changes, particularly in the facial area, the upper arms and hands, and the lower legs and feet. Due to degenerative changes affecting the facial area, individuals with Werner syndrome may have unusually prominent eyes, a beaked or pinched nose, and/or other characteristic facial abnormalities. (For more information on this disorder, choose "Werner syndrome" as your search term in the Rare Disease Database.)
Treatment for Gottron syndrome is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Royce PM, Steinmann B. Connective Tissue and Its Heritable Disorders. 2nd ed. Wiley-Liss, Inc., New York, NY. 2002:464-65.
Blaszczyk M, Depaepe A, Nuytinck L, et al. Acrogeria of the Gottron type in a mother and son. Eur J Dermatol. 2000;10:36-40.
Rezai-delui H, Lotfi N, Mamoori G, et al. Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family. Pediatr Radiol. 1999;29:124-30.
Greally JM, Boone LY, Lenkey SG, et al. Acrometageria: a spectrum of premature aging syndromes. Am J Med Genet. 1992;44:334-39.
FROM THE INTERNET
Koler RA, Montemarano A. Dermatomyositis. American Family Physician. 2001. 13pp.
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Acrogeria, Gottron Type. Entry Number; 201200: Last Edit Date; 2/21/2001.
Report last updated: 2008/03/30 00:00:00 GMT+0