نتایج جستجو برای: poikiloderma
تعداد نتایج: 174 فیلتر نتایج به سال:
Prior dermatomyositis (DM) cohort studies have not had sufficient representation of patients with skin color (SOC). Our study investigated differences in clinical presentations and co-morbidities DM without SOC (i.e. White Non-Hispanic), (e.g. Black, Hispanic, Asian). We conducted a retrospective 130 seen outpatient dermatology clinics at University Texas Southwestern Parkland Health between Ja...
Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents. Important clinical features are: intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented lentiginous...
In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance ...
BACKGROUND Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients. RESULTS We characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoire of the gene. We detect the two novel C16orf57 mutations, c.232C>T and c.265+2T>G, as well as t...
BACKGROUND The flashlamp-pumped pulsed dye laser (585 and 577 nm) has proven to be a very effective and safe treatment option in the therapy of essential telangiectasias (ETE). Nevertheless, the postoperative intracutaneous hematomata, which most patients see as cosmetically disfiguring, always has been a matter of concern. OBJECTIVE To test the efficacy and safety of a new, large spot size, ...
BACKGROUND Kindler syndrome (online Mendelian Inheritance in Man No. 173650) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life. Other clinical features include photosensitivity, webbing of the fingers and toes, nail dystrophy, periodontal disease, and mucosal alterations. Aside from esop...
BACKGROUND Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predi...
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