نتایج جستجو برای: lamellar ichthyosis

تعداد نتایج: 8730  

Journal: :Pakistan Journal of Medical Sciences 2013

2013
Raafia Ali Shahbaz Aman Muhammad Nadeem

Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is ...

Journal: :International journal of dermatology 2000
M T Lin L Pulkkinen J Uitto K Yoon

Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 12 Epidermolytic PPK KRT9 12 Non-epidermolytic PPK KRT16 12 Vohwinkel’s syndrome LOR 31 Ichthyosis bullosa Siemens KRT2e 64 Pachonychia congenita type 1/2 KRT6a, 16, 17 64 X-linked ichthyosis STS 7 Lamellar ichthyosis TGM1 31 Palmoplantar keratoderma GJB2 61 with deafness Erythrokeratodermia variabilis GJB3 60 Darier’s disease AT...

Journal: :Pediatrics 2004
Tom D Thacher Philip R Fischer John M Pettifor Gary L Darmstadt

Nutritional rickets has occasionally been described in children with lamellar ichthyosis, but their vitamin D endocrine status has not been described. We report 3 cases of vitamin D-deficiency rickets associated with ichthyosis in African children. A 13-month-old Nigerian boy with lamellar ichthyosis had rib beading, elevated alkaline phosphatase, and rachitic changes on radiographs. His ricket...

شرفی, بیتا, فقانی, حسن, عشقی, غلامرضا ,

Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency. Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent. Tautness of her facial skin was as...

Journal: :Acta dermato-venereologica 2010
Anders Vahlquist

Congenital ichthyosis is often associated with typical neonatal phenotypes, "Collodion baby" and "Harlequin foetus", later transforming into severe lamellar or erythrodermic ichthyosis. However, in a minority of cases the skin condition will improve spontaneously after birth, although slight scaling, xerosis, hypohidrosis and keratoderma usually persist. Some of these patients will eventually b...

Journal: :International Journal of Medical Reviews and Case Reports 2019

Journal: :Archives of Medicine and Health Sciences 2018

Journal: :International Journal of Advances in Pharmacy and Biotechnology 2017

Journal: :Journal of Investigative Dermatology 1996

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید