نتایج جستجو برای: genodermatosis
تعداد نتایج: 344 فیلتر نتایج به سال:
kindler syndrome (ks) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. it affects the skin, mucous membranes, and oral cavity and is caused by mutations in the kind1 gene on 20p12.3. the first case of ks associated with periodontitis was reported in 1996, and have been infrequ...
Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis ...
A 8-month-old female baby presented with cushingoid facies, with large skin folds involving the extremities and trunk since birth (Fig. 1). The child was born to healthy parents in a non-consanguineous marriage. The child weighed 8 kgs, was exclusively breast fed and developmentally normal and had no dysmorhic features. There was no history of similar complaints in other family members. Serum c...
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother’s; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no cont...
Darierdisease(DD)is a rare congenital acantholytic disorder characterised by persistent eruptions of greasy, hyperkeratotic papules in seborrhoeic areas, extremities and rarely intertriginous areas.Nail abnormalitiesand mucous membraneinvolvement also occurs. A neuropsychiatricdisordercan be present occasionally. We are reporting case Darier disease male child born consanguineous marriage coexi...
Piebaldism is a rare genodermatosis in which depigmented skin areas are unresponsive to topical or light treatment. This article describes the importance of transplant techniques using noncultured melanocytes (minigrafting) in the treatment of piebaldism.
Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis involving all three embryonic layers. Herein, the first case of this syndrome from Iran will be reported. The main clinical features were fat herniation, reticulate pigmentations, telangiectasia, and skeletal defects.
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید