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Disease Profile

Acrogeria, Gottron type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

0

US Estimated

Europe Estimated

Age of onset

Childhood

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ICD-10

L90.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Metageria; Acrometageria; Familial acrogeria;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

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.[1][2][3][4]

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:[1][2][3]

  • 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.[2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

 0002213
Irregular hyperpigmentation
0007400
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Lipoatrophy
Loss of fat tissue in localized area
0100578
Short stature
Decreased body height
Small stature

[ more ]

 0004322
Thin skin
0000963
30%-79% of people have these symptoms
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity

[ more ]

 0000444
Excessive wrinkled skin
0007392
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

 0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

 0000347
Scoliosis
0002650
Short foot
Short feet
Small feet

[ more ]

 0001773
Small hand
Disproportionately small hands
0200055
Telangiectasia of the skin
0100585
5%-29% of people have these symptoms
Skeletal dysplasia
0002652
Skin ulcer
Open skin sore
0200042

Cause

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.[2][3] DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Diagnosis

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.[6]

Treatment

Treatment for acrogeria, Gottron type is focused on managing the symptoms.[6] 

Specialists who may be involved in the care of someone with acrogeria, Gottron type include:

  • Dermatologist
  • Orthopedist
  • Medical geneticist

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Acrogeria, Gottron type. Click on the link to view a sample search on this topic.

References

  1. Sanghi S, GrewalRS, Vasudevan B, Nagure A. A rare case of acrogeria. Med J Armed Forces India. 2013; 69(4):406-408. https://pubmed.ncbi.nlm.nih.gov/24600155.
  2. Maroofian R, Murdocca M, Rezaei-Delui H, et al. A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family. Clin Dysmorph. 2018; 27(3):88-90. https://pubmed.ncbi.nlm.nih.gov/29595749.
  3. Hadj-Rabia S, Mashiah J, Roll P, et al. A new lamin a mutation associated with acrogeria syndrome. J Invest Dermatol. 2014; 134(8):2274-2277. https://pubmed.ncbi.nlm.nih.gov/24687084.
  4. Hashimoto C, Abe M, Onozwa N, Yokoyama Y, Ishikawa O. Acrogeria (Gottron type): a vascular disorder?. Br J Dermatol. 2004; 151(2):497-501. https://pubmed.ncbi.nlm.nih.gov/15327562.
  5. Blaszczyk M, Depaepe A, Nuytinck L, Glinska-Ferenz M, Jablonska S. Acrogeria of the Gottron type in a mother and son. Eur J Dermatol. 2000; 10(1):36-40. https://pubmed.ncbi.nlm.nih.gov/10694296.
  6. Gottron syndrome. National Organization for Rare Disorders. 2005; https://rarediseases.org/rare-diseases/gottron-syndrome. Accessed 12/13/2010.
  7. Ahmad SM, Majeed I. Familial acrogeria in a brother and sister. Indian J Dermatol Venereol Leprol. 2003 May-Jun; 69(3):227-228. https://pubmed.ncbi.nlm.nih.gov/17642895.

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