Lipoid proteinosis. A report of 2 siblings and a brief review of the literature.

نویسنده

  • Sahar H Al-Natour
چکیده

Lipoid proteinosis is a rare autosomal recessive inherited metabolic disorder characterized by deposition of a hyaline-like material in the skin, oral laryngeal mucosa, and in other sites. In this report, the author describes 2 Saudi siblings who had characteristic skin findings, oral and mucosal lesions, histological findings along with few rarely encountered manifestations including pathognomonic calcifications in the hippocampus, electroencephalogram findings and briefly reviews the literature. These cases are presented to emphasize the occurrence of this condition in Saudi Arabia, and to update information on the latest developments of this disorder.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Lipoid proteinosis: Report of three cases in one family

Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although

متن کامل

PHEOCHROMOCYTOMA OF URINARY BLADDER: REPORT OF A CASE AND BRIEF REVIEW OF THE LITERATURE

A case of pheochromocytoma of the bladder is presented with a r eview of the literature. We discuss general management principles of bladder pheochromocytoma. Successful diagnosis and treatment of this lesion requires a high index of suspicion based upon the patient's symptom complex, allowing preoperative preparation prior to surgical treatment.

متن کامل

A case report and brief review of the literature of an unusual vascular malformation: linear verrucous hemangioma

Verrucous hemangiomas (VH) are uncommon, congenital vascular malformations of the cutaneous and subcutaneous tissues that spare the deeper subfacial structures. VH usually presents at birth and slowly grows with age. It usually presents as hyperkeratotic, scattered, bluish-red plaques or nodules of various sizes. Although the lesions mostly have a linear pattern, serpiginous and reticulat...

متن کامل

Fatal Cobalt Cardiomyopathy Following Revision Total Hip Arthroplasty – A Brief Report with Review of Literature

Ceramic bearing surfaces are being increasingly used in young patients undergoing total hip arthroplasty. However,failures have been reported including fractures even with the newer third generation ceramics. The recommendedtreatment for fracture of ceramic bearing surfaces is complete synovectomy and revision total hip arthroplasty.However, disappointing results have also bee...

متن کامل

Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature

  We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Saudi medical journal

دوره 29 8  شماره 

صفحات  -

تاریخ انتشار 2008