Occurrence of Hereditary Nephritis, Pretibial Epidermolysis bullosa and Beta-Thalassemia minor in Two Siblings with End-Stage Renal Disease
نویسندگان
چکیده
منابع مشابه
Microsoft Word - NEF331BF.rtf
Occurrence of Hereditary Nephritis, Pretibial Epidermolysis bullosa and Beta-Thalassemia minor in Two Siblings with End-Stage Renal Disease A. Alexander Kagan S. Steven Feld J. Juan Chemke Y. Yaacov Bar-Khayim Division of Nephrology, Department of Internal Medicine B, and Clinical Genetics Unit, Kaplan Hospital (affiliated to the Medical School of the Hebrew University and Hadassah, Jerusalem),...
متن کاملPretibial Epidermolysis Bullosa: Report of two cases
Pretibial epidermolysis bullosa is a rare variant of hereditary epidermolysis bullosa characterized by the delayed onset of lesions and their localization. We present two cases, a 35-year-old woman and a 21-year-old man. They clinically had pruritus, nodular prurigo-like or lichenified lesions, violaceous scarring, milia, nail dystrophy and in one case albopapuloid lesions on the trunk. Physica...
متن کاملEnd Stage Renal Disease in a Child with Epidermolysis Bullosa
Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through several mechanisms, mainly immunological ones. The present case described a young male with dystrophic recessive EB who developed an advanced chronic renal damage secondary to tubulointerstitial nephritis that wa...
متن کاملPretibial Epidermolysis Bullosa
History A 12-year-old boy presented with a history of blistering due to trauma on both shins since birth. They healed with scarring and milia formation. The lesions mainly affected the shins and some occasionally appeared on the waist. They were mildly pruritic and were worse in the summer as well as being precipitated by trauma. There was also toenail dystrophy but his hair and teeth were norm...
متن کاملPretibial dystrophic epidermolysis bullosa*
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nephron
سال: 1988
ISSN: 1660-8151,2235-3186
DOI: 10.1159/000185086