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).[1]
This is one of the classic congenital premature aging syndromes, occurring early in life, others being pangeria (Werner's syndrome) and progeria (Hutchinson–Gilford's syndrome), and was characterized in 1940.[2] 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.[2]
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.[3] 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).[4]
Presentation
The most characteristic symptom of acrogeria is thin, atrophic skin with mottled pigmentation and telangiectasia, most severe in the limbs and extremities.[5] This is accompanied by easy bruising, hyperkeratosis, and a loss of subcutaneous fat,[6] which is replaced by connective tissue.[7] Patients have a facies with a pinched face, hollow cheeks, prominent eyes without exophthalmos, a beak-like nose and thin lips.[8] Though the hair and nails are normal in many cases,[9]alopecia and nail dystrophies, such as onychogryphosis and koilonychia, have been reported.[10] Stature is short in some patients[11] and normal in others.[10] The general skeletal structure is unremarkable,[10] but acrogeria results in delayed closure of the cranial sutures, notching of the mandible, and micrognathia;[11] and may also coincide with spina bifida, clubfoot and congenital dislocation of the hips.[7]Sexual development, including the development of secondary sex characteristics, is normal, and so is intelligence.[10] There is no correlation of acrogeria with metabolic, opthamological or cardiovascular disorders, and patients have a normal life expectancy.[10] Similarities between the clinical features of acrogeria and Werner's syndrome have been observed.[12]
This page is based on this Wikipedia article Text is available under the CC BY-SA 4.0 license; additional terms may apply. Images, videos and audio are available under their respective licenses.
