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Specific xerostomia during Urbach-Wiethe disease
P Disdier1, J R Harlé, L Andrac
1Service de Médecine Interne, Hôpital de la Timone, Marseille, France.
Dermatology (Basel, Switzerland)
|January 1, 1994
Summary
Urbach-Wiethe disease, a rare genetic disorder, can cause severe dry mouth (xerostomia) and eye dryness. This case highlights a previously unreported symptom of this condition.
Area of Science:
- Ophthalmology
- Genetics
- Pathology
Background:
- Urbach-Wiethe disease is a rare autosomal recessive disorder characterized by lipoid proteinosis.
- Commonly associated symptoms include skin and mucosal lesions, hoarseness, and neurological deficits.
Observation:
- A 59-year-old woman with a history of Urbach-Wiethe disease presented with progressive xerostomia and keratoconjunctivitis sicca.
- Salivary gland biopsy revealed PAS-positive hyalin-like deposits and multilaminated basal lamina of capillary vessels.
Findings:
- This case presents the first documented instance of severe xerostomia as a primary symptom of Urbach-Wiethe disease.
- The pathological findings in the salivary glands are consistent with lipoid proteinosis affecting glandular structures.
Implications:
- This finding expands the known clinical spectrum of Urbach-Wiethe disease.
- Suggests the need for ophthalmological and oral evaluations in patients diagnosed with Urbach-Wiethe disease.
- Further research into the pathogenesis of xerostomia in this condition is warranted.