To cite: Parida JR, Misra DP, Agarwal V. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212443 DESCRIPTION A 14-year-old girl was referred for skin tightening in the fingers. She did not have Raynaud’s phenomenon, gastroesophageal reflux disease or other systemic symptoms. She had had a hoarse voice since birth and was developmentally normal. She was born of ...

SIEBENMANN (1908) described lipidproteinosis, and the condition was subsequently reported as a clinical entity by Urbach and Wiethe (1929). During infancy and early childhood a structureless eosinophilic substance develops under the epithelium of the skin and upper respiratory tract. Hoarseness is followed by a skin eruption giving a pale, yellow-brown, pock-marked appearance, especially on the...

URBACH-WIETHE is a very rare autosomally recessive disorder characterized by infiltration of hyaline material into skin,oral cavity,larynx,and internal organs.in this report we persent a case of a 22 year old woman with small scars on her face,hoarseness,firm tongue and beaded papules along the margins of eyelids,who was referred to the deparment of ophthalmology of Kerman university No3: hospi...

OBJECTIVE To describe the unique case of a patient with panic attacks and bilateral selective amygdala lesions due to Urbach-Wiethe disease. DESIGN Case report. SETTING Epilepsy Monitoring Unit, Medical University of Vienna. Patient A 38-year-old man with Urbach-Wiethe disease developed spontaneous panic attacks and depressive mood, which ceased after antidepressive treatment. INTERVENTIO...

A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.