ABSTRACT
Alport's syndrome is a hereditary disorder whose incidence is 1 in 10,000 in general population, and, majority are developed in childhood, so it is rare to develop in adults. This syndrome consists of hematuria, sensorineural hearing loss, and lenticonus, in classic form. However, there are many atypical forms which have not all clinical manifestations. Although most asymptomatic hematuria in adults results from IgA nephropathy(Berger's disease) or thin basement disease(benign hematuria), Alport's syndrome should be considered as a cause of hematuria. The authors experienced a case of Alport's syndrome in a 21-year-old man who showed only hematuria and proteinuria, and who was diagnosed by history, family history, audiogram, and kidney needle biopsy. So, we report this case with a review of literature.
Subject(s)
Adult , Humans , Young Adult , Biopsy, Needle , Hearing Loss, Sensorineural , Hematuria , Immunoglobulin A , Incidence , Kidney , Nephritis, Hereditary , ProteinuriaABSTRACT
Scleredema is a rare connective tissue disease of unknown etiology and characterized by non-pitting thickening of subcutaneous tissue of the neck, face, head, upper trunk and arms. We present a 28 year-old man with extensive skin changes following upper respiratory infection, who have not any concurrent disorders such as diabetes mellitus. Histopathological findings of skin showed normal epidermis with a widening of spaces between collagen bundles by infiltration of acid mucopolysaccharide in the dermis.