Acrogeria, Gottron type
Metageria; Acrometageria; Familial acrogeria; Acrogeria; Gottron syndrome
Acrogeria, Gottron type is a premature aging syndrome which includes fragile, thin skin on the hands, feet and face and slow growth.
- Less than 50 cases of acrogeria, Gottron type have been reported in the literature.
- Females are more often affected than males.
- The exact number of people with this condition is unknown.
- 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.
- 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.
Signs and symptoms
- 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)
- In general, the symptoms of acrogeria, Gottron type do not get worse over time and people with this condition have average intelligence.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Fine hair(Fine hair shaft)
- Irregular hyperpigmentation
- Joint hyperflexibility(Joints move beyond expected range of motion)
- Lipoatrophy(Loss of fat tissue in localized area)
- Short stature(Decreased body height)
- Thin skin
30%-79% of people have these symptoms
- Convex nasal ridge(Beaked nose)
- Excessive wrinkled skin
- Intellectual disability(Mental deficiency)
- Micrognathia(Little lower jaw)
- Short foot(Short feet)
- Small hand(Disproportionately small hands)
- Telangiectasia of the skin
5%-29% of people have these symptoms
- Skeletal dysplasia
- Skin ulcer(Open skin sore)
- 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.
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:
NIH genetic and rare disease info
Acrogeria, Gottron type is a rare disease.
Latest research - Acrogeria, Gottron type