نتایج جستجو برای: poikiloderma
تعداد نتایج: 174 فیلتر نتایج به سال:
Results All patients had characteristic poikiloderma as well as thumb anomalies. They were born dysmaturely and presented with failure to thrive. Age at genetic diagnosis was 5y, 4y and 3y for P1, P2, P3. Osteopenia and abnormal metaphyseal trabeculation of bones were striking on the initial skeletal survey in all patients. Z-scores on DXA scan were -0.1, -1.1 and -1.2 for P1, P2, P3 respective...
Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions compl...
BACKGROUND Iraq used chemical weapons against thousands of Iranian militaries and civilians. This study aimed to compare the chronic cutaneous side effects of exposure to sulfur mustard (SM) with nerve agents (NA). METHODS The study enrolled 154 SM exposed cases and 175 (NA) exposed cases. Presence of any late cutaneous manifestations was evaluated by a dermatologist via prior history of acut...
Numerous mechanisms have been postulated to play an important role in the pathogenesis of poikiloderma of Civatte (PC), including chronic exposure to ultraviolet radiation, menopause-related hormonal changes, contact hypersensitivity and genetic predisposition. Herein, we report a case of contact sensitization to fragrances and commonly used preservatives, methylchloroisothiazolinone and methyl...
RTS: Rothmund-Thomson syndrome INTRODUCTION Rothmund-Thomson syndrome (RTS) (OMIM #268400) is a rare autosomal recessive disorder characterized by erythema, blisters, and swelling that appears during infancy on the cheeks, spreads to the extremities, and eventually leads to poikiloderma. Additionally, a large percentage of patients have short stature and skeletal abnormalities, and some patient...
Annals Academy of Medicine Dear Editor, Bosentan is an endothelin-1 (ET-1) receptor antagonist approved for the treatment of pulmonary artery hypertension (PAH). Although fl ushing is a documented side effect of bosentan, the diagnosis can mimic other drug rashes and medical conditions where facial telangiectasis and/or fl ushing are prominent presentation. We present a 76-yearold woman complai...
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