Gottron Syndrome

A familial form of progeria in which premature aging of the skin and growth retardation predominantly affects the hands and feet. Small stature and micrognathia may be present. Cardiac assessment to rule out ischemic heart disease and/or congestive heart failure.

Familial Acrogeria; Familial Acromicria; Metageria; Acrometageria.

Described by Heinrich Adolf Gottron (1890-1974), a German dermatologist.

Approximately 40 cases have been reported in the literature.

Probably an autosomal dominant, sporadic, spontaneous gene mutation.

Underlying mutation of collagen gene leading to abnormality of collagen metabolism.

Clinical course and features, raised urinary hyaluronic acid levels.

A premature aging syndrome where patients present with aged facies, wrinkled skin of feet and hands, joint hypermobility, and learning difficulties. Small stature and micrognathia may be present. Prominent vessels on the skin over the torso have been described. Premature aging syndromes may be associated with premature atherosclerosis, myocardial infarction, and congestive heart failure.

Full cardiac assessment to rule out premature ischemic heart disease and/or congestive heart failure is recommended.

Mental retardation may be a feature, so the patient may require a sedative premedication prior to anesthesia. Possibility of difficult tracheal intubation in patients with micrognathia. Careful attention to patient positioning and pressure areas is mandatory since the skin may be thin and atrophic and the bone osteoporotic. The distal skin areas of the extremities may be bruised and ulcerated, making vascular access potentially difficult.

All those associated with the potential presence of ischemic heart diseases and congestive heart failure.

Progeria Syndrome (Hutchinson-Gilford Syndrome): Severe form of progeria. The clinical characteristics include rapid aging, dwarfism, large head, small face, beak-like nose, exophthalmos, blue sclerae, and a receding chin. Other symptoms include dry, thin, and wrinkled skin that appears aged. Patients affected with this condition present with usually normal intelligence, but their life expectancy is significantly shorter than normal.

De Barsy-Moens-Diercks Syndrome (De Barsy Syndrome; Progeroid Syndrome of De Barsy; Corneal Clouding-Cutis Laxa-Mental Retardation Syndrome; Cutis Laxa-Growth Deficiency Syndrome): Extremely rare, autosomal recessive disorder characterized by progeria, corneal clouding, dwarfism, and mental retardation. Other clinical features include ocular, facial, skeletal, dermatologic, and neurologic abnormalities.

Granddad Syndrome: Premature aging of the face combined with generalized growth retardation.