Acrogeria, Gottron type
Alternate names[edit | edit source]
Metageria; Acrometageria; Familial acrogeria; Acrogeria; Gottron syndrome
Definition[edit | edit source]
Acrogeria, Gottron type is a premature aging syndrome which includes fragile, thin skin on the hands, feet and face and slow growth.
Epidemiology[edit | edit source]
- 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.
Cause[edit | edit source]
- 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.
Inheritance[edit | edit source]
- 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[edit | edit source]
- 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.
Clinical presentation[edit | edit source]
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)
- Scoliosis
- 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)
Diagnosis[edit | edit source]
- 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[edit | edit source]
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:
- Dermatologist
- Orthopedist
- Medical geneticist
NIH genetic and rare disease info[edit source]
Acrogeria, Gottron type is a rare disease.
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