[Urbach-Wiethe disease. Apropos of 2 cases].
The Urbach-Wiethe disease is a rare condition, where a hyaline substance of an unknown biochemical nature is accumulated in both teguments and mucous membranes. It has an autosomic and recessive genetic transmission. Cutaneous and mucous lesions (especially on the upper digestive tract) are described, insisting about the laryngeal location and the neurological troubles (with their main symptom: intracranial calcifications). The association of the disease with congenital indifference to pain is to be noted. Two particular cases are reported.
M
M
Wayoff
M
M
Weber
C
C
Pinelli
P
P
Maxant
C
C
Moret
D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000209:etiology; D002114:Calcinosis / Q000209:etiology; D005148:Facial Dermatoses / Q000209:etiology; D005260:Female; D006801:Humans; D007818:Laryngeal Diseases / Q000175:diagnosis / Q000209:etiology*; D007828:Laryngoscopy; D008064:Lipidoses / Q000175:diagnosis*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008297:Male; D000699:Pain Insensitivity, Congenital / Q000235:genetics; D012871:Skin Diseases / Q000209:etiology; D014827:Vocal Cords / Q000473:pathology; D014832:Voice Disorders / Q000151:congenital
La maladie d'Urbach-Wiethe. A propos de deux observations.