What is the definition of Acrogeria, Gottron Type?
Acrogeria, Gottron type is a premature aging syndrome which includes fragile, thin skin on the hands, feet and face and slow growth. Other symptoms include visible blood vessels, easy bruising, and hair and nail abnormalities. In general, the symptoms do not appear to get worse over time. Intelligence is normal. The cause is unknown, although several genes have been associated with it. Both autosomal recessive and autosomal dominant inheritance have been reported. Diagnosis is based on a clinical exam and the symptoms. Treatment is focused on managing the symptoms.
What are the alternative names for Acrogeria, Gottron Type?
- Familial acrogeria
- Gottron syndrome
What are the causes for Acrogeria, Gottron Type?
The cause of acrogeria, Gottron type is unclear. In a few cases, it has been reported to occur when either the LMNA, ZMPSTE24, or COL3A1 gene are not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.
What are the symptoms for Acrogeria, Gottron Type?
The following list includes the most common signs and symptoms in acrogeria, Gottron type. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.
Signs and symptoms may include:
- Thin, fragile skin on the hands, feet and face
- Small stature
- Visible blood vessels
- Easy bruising
- Hair and nail abnormalities
- Bone re-absorption of the ends of the fingers and toes (acro-osteolysis)
There have been less than 50 cases of acrogeria, Gottron type reported in the literature. In general, the symptoms of acrogeria, Gottron type do not get worse over time and people with this condition have average intelligence.
What are the current treatments for Acrogeria, Gottron Type?
Treatment for acrogeria, Gottron type is focused on managing the symptoms.
Specialists who may be involved in the care of someone with acrogeria, Gottron type include:
- Medical geneticist
How is Acrogeria, Gottron Type diagnosed?
Acrogeria, Gottron type is diagnosed through a clinical examination. Other more common conditions may need to be excluded first. Genetic testing may be helpful as well.
Is Acrogeria, Gottron Type an inherited disorder?
Acrogeria, Gottron type is not usually inherited in families, and occurs as an isolated case. In a few families, it has been inherited as either an autosomal recessive or autosomal dominant pattern.