Gottron Syndrome

At a glance

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. It is associated with unusually fragile skin on the hands and feet.

Synonyms

Acrogeria Syndrome; Familial Acrogeria Syndrome; Familial Acromicria Syndrome; Metageria Syndrome; Acrometageria Syndrome.

History

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

Incidence

Approximately 40 cases have been reported in the literature.

Genetic inheritance

It is suggested that an autosomal dominant, sporadic, spontaneous gene mutation might be involved.

Pathophysiology

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

Diagnosis

Based on the clinical presentation and the presence of raised urinary hyaluronic acid levels.

Clinical aspects

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.

Precaution before anesthesia

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

Anesthetic considerations

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.

Pharmacological implications

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

Other conditions to be considered

• ☞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.

• ☞Pangeria Syndrome (Werner’s Syndrome): Also known as progeria adultorum, progeria of the adult, and pangeria. It is the most common of the premature aging disorders. Otto Werner (1 February 1879-5 June 1936) was a German physician, observed as a medical student in 1903 the syndrome in four siblings near the age ...