نتایج جستجو برای: ichthyosis fetal

تعداد نتایج: 89332  

Journal: :Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2011
Nasser Rashid Dar Naeem Raza Azmat Khan Muhammad Umar Amin

Black brown hyperpigmentation of the mucosae, sunexposed skin, palmar creases and frictional sites (Addisonian pigmentation) is characteristic of Addison disease. However, it can also occur as a paraneoplastic manifestation of tumours like bronchogenic carcinoma. Acquired ichthyosis starts later in life and can also be a paraneoplastic presentation. We report a unique combination of paraneoplas...

2017
Christopher M. Wolfe Alexander Davis Tarek S. Shaath George F. Cohen

GJB2: gap junction protein b2 KID: keratitis-ichthyosis-deafness INTRODUCTION Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis with approximately 100 published cases. Although it is classified as an autosomal dominant disorder, more than 90% of cases are caused by sporadic mutations predominantly in gap junction protein b2 (GJB2) on chromosome 13q11-q12 (OMIM 148210). GJB2 ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1987
A Ballabio G Parenti R Carrozzo G Sebastio G Andria V Buckle N Fraser I Craig M Rocchi G Romeo

We have isolated several cDNA clones from a lambda gt11 expression library by screening with antibodies prepared against the microsomal enzyme steroid sulfatase, which is deficient in classical X-chromosome-linked ichthyosis patients. One of these clones (p422) has been assigned by mapping with a somatic cell hybrid panel and by in situ hybridization to Xp22.3. Clone p422 therefore has a coinci...

Journal: :Indian Journal of Dermatology, Venereology, and Leprology 2015

Alipour, Marzieh , Khashei Varnamkhasti, Khalil ,

Harlequin ichthyosis is the most severe form of congenital ichthyoses with horny (Keratinized) and chapped thick skin throughout the body. In this disease, disruption in keratinization of epidermis results in the impaired barrier function and susceptibility of the neonate to dehydration and infection. In this article, a term male neonate with harlequin ichthyosis, born of a 29-year-old mother, ...

Abdolah Zandi, Hooshang Ehsani, Hossein Ali Askari, Mohsen Khalili,

A case of congenital ichthiosis 1s presented. Histo­logic pattern and the treatment is discussed. 

2017

Ichthyosis uteri is an exceedingly rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Originally described as an endometrial response to iatrogenically-introduced caustic substances, similar changes have since been described in association with a variety of inflammatory conditions of the endometrium. We describe herein a heretofore undes...

Journal: :Journal of the American Academy of Dermatology 1996
A G Feind-Koopmans G P Lucker P C van de Kerkhof

We describe a patient with ichthyosiform erythroderma as a manifestation of sarcoidosis. This is the first report of the simultaneous occurrence of erythroderma and ichthyosis in sarcoidosis.

Journal: :Iranian Journal of Pediatrics 2023

Introduction: Ichthyosis is an epidermal disruption that increases insensible water loss. Hypernatremic dehydration a consequence of skin disruption. This study reviewed the treatment hypernatremic in patients with ichthyosis comparing to intact skin. Case Presentation: We studied five neonates hypernatremia, including three cases and two normal-skin neonates. case-series showed sodium correcti...

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