Lipoid proteinosis: a case report urbach and wiethe disease

Lipoid proteinosis [LP] is a rare autosomal recessive disease characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera. The classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. Skin and mucous changes develope, and the disease follows a slowly progressive course. In this case report, a 49 year-old man presented with a longstanding hoarseness since childhood, dysphagia and asymptomatic skin lesions. Esophageal biopsy showed the deposition of homogenous eosinophilic hyaline-like material compatible with LP

Adult-onset familial Mediterranean fever in northwestern Iran; clinical feature and treatment outcome

Familial Mediterranean fever [FMF] is an autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serosal inflammation. Although the disease usually begins before the age of 20 years, we aimed to evaluate the demography, clinical features and treatment outcome of familial Mediterranean fever in Iranian adult patients above 20 years old. In this cross-sectional study, adult patients [first attack at the age of > 20 years] with a diagnosis of FMF who referred to the gastroenterology and rheumatology clinics of Ardebil University of Medical Science [situated in north west of Iran] over the period of 2004-2009 were enrolled. FMF diagnosis was based on clinical criteria. Forty four FMF patients [30 male and 14 female] with the mean [ +/- Standard Deviation [SD]] age of first attack of 29 +/- 7.8 years were enrolled. Abdominal pain [95.5%] and fever [91%] were the most common clinical findings. All of the patients had satisfactorily responded to therapy. Response was complete in 76.7% and partial in 23.3% of the patients. There was no clinical or laboratory evidence of amloidosis at the time of diagnosis or during follow-up. Our findings demonstrated that adult-onset FMF in Iran has different characteristics [more common in males, lesser prevalence of arthritis and erysipelas-like erythema, less delay in diagnosis] and treatment outcome [favorable response even to low-dose colchicines] in comparison with the previous data on early onset patients