Acrogeria

Acrogeria
Other names	Acrogeria, Gottron type, Gottron's syndrome1
Fibers of Collagen Type I - TEM
Specialty	Dermatology
Usual onset	Childhood
Duration	Lifelong
Causes	Genetic
Differential diagnosis	Werner's syndrome
Prognosis	Normal life expectancy

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

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 patients¹¹ 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