[Epiphora as the leading symptom of Urbach-Wiethe syndrome in a sibling pair].
Urbach-Wiethe-Syndrom. syn. Hyalinosis cutis et mucosae is a rare, probably autosomal-recessively inherited disease. In the first weeks of life it begins with typical hoarness due to hyalin deposits in larynx and with increasing age leads to different changes in mucous membrane and later on in cutis. Etiology and pathogenesis are unknown. The treatment is only symptomatic. In our casuistic we present two sisters, who are constantly full of tears. Either show different stage of the typical representation of Hyalinosis cutis et mucosae. We demonstrate progression and penetrance of the disease and clinical alterations in eyes, skin and mucous membrane.
Knorr
H L
HL
Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg, Bundesrepublik Deutschland.
Meythaler
H F
HF
Naumann
G O
GO
D000328:Adult; D005141:Eyelid Diseases / Q000175:diagnosis / Q000235:genetics*; D005143:Eyelids / Q000473:pathology; D005260:Female; D006801:Humans; D007818:Laryngeal Diseases / Q000175:diagnosis / Q000235:genetics; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014827:Vocal Cords / Q000473:pathology
Epiphora als Leitsymptom des Urbach-Wiethe-Syndroms bei einem Geschwisterpaar.