Urbach-Wiethe syndrome

Urbach-Wiethe syndrome is a rare, autosomal recessive genetic disorder affecting the skin and nervous system. A mutation on chromosome 1 leads to loss of function of the ECM1 gene and the formation of hyaline-like material in the skin. As a result, the skin thickens and hardens. Calcifications are often found in the brain, causing various neurological manifestations of the disease.

Diagnosis:
Urbach-Wiethe syndrome is typically diagnosed based on its characteristic skin manifestations. Skin can also be tested for the presence of hyaline-like material. CT imaging can reveal brain calcifications, which may not be directly related to the syndrome. Definitive confirmation is possible through genetic testing for ECM1 mutations.

Treatment:
Currently, the syndrome is incurable (as with other genetic disorders), but specific manifestations can be relatively well managed. It is not a life-threatening condition, and with prompt management of respiratory or other complications, life expectancy is generally not reduced.

• Porcelain-like skin appearance
• Fragile, easily injured skin
• Blisters and scars from minor injuries
• Dry and wrinkled skin
• White or yellow deposits on the lips, oral mucosa, and tonsils
• Upper respiratory infections; sometimes tracheostomy is required to alleviate symptoms
• Possible speech difficulties
• Papules (small growths) on the edges of the eyelids are typical
• Hair loss
• Corneal ulcer
• Focal macular degeneration, leading to visual impairment
• Gingivitis (inflammation of the gums)
• Impairments in forming and storing memories associated with emotional events
• Inability to recognize responses to stimuli, especially unpleasant events
• Absence of typical fear responses such as freezing (immobility), tachycardia (rapid heartbeat), increased respiration, stomach tightening, and release of stress hormones
• Epilepsy
• Anxiety attacks
• Mood disorders
• Psychotic disorders and other possible psychiatric manifestations
• Hoarse voice
• Weak crying in newborns