About h. gottron's syndrome

What is h. gottron's syndrome?

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.

What are the symptoms for h. gottron's syndrome?

And parchment-like symptom was found in the h. gottron's syndrome condition

The signs and symptoms of Gottron syndrome vary somewhat from one person to another. Because this condition is so rare, it is difficult to get a complete picture of the core features that define the syndrome.

Generally, from birth-onwards, 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) and may even involve the face. The hands and feet remain abnormally small into adulthood. Those affected by Gottron syndrome are said to have a characteristic face defined by a pinched looking face, hollow cheeks, an owl-eyed appearance, a beaked nose and thin lips.

The veins on the chest are very visible and prominent (telangiectasia) due to diminished amounts of fat under the skin (subcutaneous fat). There may also be discoloration of the skin (poikiloderma) or easy Bruising especially on the legs and the chest. However, while mostly it is reported that nails appear normal, there have been some reports of a thickened appearance (dystrophic). The affected individual may also have fine or thinning hair (alopecia).

Certain skeletal defects may be evident as well. These may include delayed cranial suture closure. The newborn’s skull is comprised of separate bony plates which are separated by sutures. This allows for transient distortion during birth and permits for growth of the brain in the first two years of life. Normally these bony plates will end up fusing by the age of two. Other skeletal defects include bone reabsorption of the ends of the fingers and toes (acro-osteolysis) as well as recurrent fractures.

Gottron syndrome is a non-progressive disorder, so the symptoms do not tend to get worse over time. The prognosis is generally quite good and affected individuals have average intelligence as well as a normal life expectancy. Although some patients develop heart disease similar to other premature aging diseases (progeria), people with Gottron syndrome do not usually have the associated premature heart disease.

What are the causes for h. gottron's syndrome?

Gottron syndrome is a rare disorder that for which the mode of inheritance is still not well understood. There is evidence for both autosomal recessive and autosomal dominant inheritance patterns. Most often, a child with Gottron syndrome is the only affected person in the family.

Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working 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 non-working 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 working genes from both parents is 25%. The risk is the same for males and females.

Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of mutated (changed gene) in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy.

While not yet well understood, there have been reports that Gottron syndrome may arise due to changes (mutations) in the LMNA, ZMPSTE24, or COL3A1 genes.

What are the treatments for h. gottron's syndrome?

Treatment for Gottron syndrome is symptomatic and supportive. The management team involved in the care of someone with Gottron syndrome may include a dermatologist, orthopedist and/or a medical geneticist.

What are the risk factors for h. gottron's syndrome?

It is believed that Gottron syndrome may affect more females than males. While about 50 affected individuals have been reported in the medical literature, the exact number of people with this condition is unknown.

Is there a cure/medications for h. gottron's syndrome?

Gottron syndrome is a very rare genetic condition that causes premature aging (progeroid), particularly on the hands and feet where the skin is extraordinarily thin and fragile (distal extremities). These distinctive skin conditions are present from birth, even though the ailment is most frequently identified in early childhood.

  • As a non-progressive condition, Gottron syndrome's symptoms do not often worsen over time. The prognosis is typically very favorable, and those who are affected have average IQ and a typical life expectancy.
  • People with Gottron syndrome typically do not have the associated premature heart disease, even though some patients do develop heart disease that resembles other diseases that cause premature aging (progeria).
  • Steroids are potent anti-inflammatory drugs (e.g., prednisone) taken as part of the treatment for Gottron syndrome. Healthcare professionals will try to treat patients with the lowest dose for the shortest amount of time possible because steroids can have many negative side effects.
  • Additionally, drugs known as steroid-sparing medicines, including methotrexate or Cellcept (mycophenolic acid), are frequently administered at the beginning of treatment to reduce the need for steroids.

Hollow cheeks,The hands and feet are slender, tight, and parchment-like,Owl-eyed appearance
Telangiectasia,Subcutaneous fat,Discoloration of the skin

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