Acrogeria (Gottron's syndrome) is a skin condition characterized by premature aging, typically in the form of unusually fragile, thin skin on the hands and feet (distal extremities).
The prefix "acro" stems from the Greek ' which alludes to "extremity, tip" while the suffix "geria" comes from the Greek ' which means "elder".
This is one of the classic
congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...
premature aging syndromes, occurring early in life, others being pangeria (
Werner's syndrome
Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria",James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . is a rare, autosomal recessive disorder ...
) and
progeria
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the Nucleus of the cell ...
(Hutchinson–Gilford's syndrome), and was characterized in 1940.
[Gottron, H. Familiaere Akrogerie. Arch. Derm. Syph. 181: 571-583, 1940.] Acrogeria was originally described by Gottron in 1941, when he noticed premature cutaneous aging localized on the hands and feet in two brothers. The problem had been present since birth.
Onset is often in early childhood, it progresses over the next few years and then remains stable over time with morphology, colour and site remaining constant. A bruising tendency has been observed.
Mutations in the COL3A1 gene, located at chromosome 2q31–q32, have been reported in varied phenotypes, including acrogeria and vascular rupture in Ehlers-Danlos' syndrome (more especially type IV).
See also
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Hutchinson–Gilford syndrome
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the Nucleus of the cell ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier agai ...
References
External links
Familial acrogeria in a brother and sister
{{Disorders involving multiple endocrine glands
Genodermatoses
Genetic disorders with OMIM but no gene
Rare diseases