نتایج جستجو برای: genodermatosis

تعداد نتایج: 344  

Journal: :journal of dental materials and techniques 0
maryam amirchaghmaghi oral and maxillofacial diseases research center, department of oral medicine, school of dentistry, mashhad university of medical sciences, mashhad, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (mashhad university of medical sciences) amir moeintaghavi dental material research center, department of periodontics, school of dentistry, mashhad university of medical sciences, mashhad, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (mashhad university of medical sciences) javid rasekhi oral and maxillofacial diseases research center, department of oral medicine, school of dentistry, mashhad university of medical sciences, mashhad, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (mashhad university of medical sciences) pegah mosannen mozafari oral and maxillofacial diseases research center, department of oral medicine, school of dentistry, mashhad university of medical sciences, mashhad, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (mashhad university of medical sciences) zohreh dalirsani oral and maxillofacial diseases research center, department of oral medicine, school of dentistry, mashhad university of medical sciences, mashhad, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (mashhad university of medical sciences) amir hossein jafarian jafarian department of pathology, ghaem hospital, mashhad university of medical sciences, mashhad, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (mashhad university of medical sciences)

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...

Journal: :Indian Journal of Paediatric Dermatology 2014

2013
Puneet Agarwal Mahendra K. Chhaperwal Apurva Singh Arvind Verma Manisha Nijhawan Kishore Singh Dinesh Mathur

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 ...

Journal: :Indian pediatrics 2013
Dhulika Dhingra G R Sethi Mukta Mantan

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...

2017
Fatima Zahra Debbarh Fatima Zahra Mernissi

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...

Journal: :International journal of advanced research 2023

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...

Journal: :Anais brasileiros de dermatologia 2010
Daniela Rezende Neves José Rogério Régis Júnior Patrícia Jannuzzi Vieira e Oliveira Renata Indelicato Zac Kleber de Sousa Silveira

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.

Alikhan Fatima Pirouzi Saeid Zargari Omid

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.

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