نتایج جستجو برای: poikiloderma
تعداد نتایج: 174 فیلتر نتایج به سال:
Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. We report two cases of KS with classical clinical presentations involving skin and mucus membranes. Clinically, both patients had four major features of KS in the form of acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. Case 1 had associated features in the form of urethral...
Abstract Background Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare autosomal dominant multi-systemic disease. To date, total 36 cases documented, eleven mutations identified confirmed by Whole-Exome Sequencing Sanger sequencing. However, these methods require certain level expertise...
The Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive disease associated with poikiloderma, telangiectasias, sun-sensitive rash, hair growth problems, juvenile cataracts and, for subset of some RTS patients, high risk cancer, especially osteosarcoma. Most the cases are caused by biallelic mutations RECQL4 gene, coding DNA helicase that belongs to RecQ family. Cellular and post-radio...
kindler syndrome is a rare hereditary disorder that predominantly involves the skin and mucous membrane. acral skin blistering, progressive photosensivity, skin atrophy and poikiloderma that begin from infancy and childhood are considered to be characteristic manifestations. urethral, anal, esophageal, mouth and laryngeal mucosa may be involved in this syndrome, thus periodontitis and gingival ...
Cutaneous T-cell lymphoma (CTCL) is associated with an increased risk of developing secondary malignancies, particularly lymphomas. However, the diagnosis prior to CTCL very rare. Herein we present cases two patients diagnosed a CTCL. The first patient was female in her late 50s history diffuse large B-cell (DLBL) breast status post chemo plus radiation who developed poikilodermatous scaly patc...
The recessive disorder poikiloderma with neutropenia (PN) is caused by mutations in the C16orf57 gene that encodes the highly conserved USB1 protein. Here, we present the 1.1 Å resolution crystal structure of human USB1, defining it as a member of the LigT-like superfamily of 2H phosphoesterases. We show that human USB1 is a distributive 3'-5' exoribonuclease that posttranscriptionally removes ...
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