A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations.
نویسندگان
چکیده
We report a case of hyalinosis cutis et mucosae, a rare disorder of hyalin deposition in skin and mucous membranes, in a 27-year-old male, whose coefficient of inbreeding was 0-0106 due to seven common ancestors, including an aunt of an early American president, in the eight preceding generations.
منابع مشابه
Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis
Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease. Along with moniliform blepharosis as a pathognomonic feature of the disease, an ophthalmologist may encounter other manifestations of UWS in any part of the eye such as cornea; conjunctiva; s...
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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...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 12 1 شماره
صفحات -
تاریخ انتشار 1975