Results 101 to 110 of about 4,560 (196)

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Indian Journal of Paediatric Dermatology
Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta, Damini Verma, Himadri, Apaopa Jemima Thekho, Ayushman Bindal   +4 more
doaj   +1 more source

Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report. [PDF]

Pharmgenomics Pers Med, 2022
Zeng J, Shan B, Guo L, Lv S, Li F.
europepmc   +1 more source

Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome

, 2003
Dorfman–Chanarin syndrome is a rare autosomal recessive inherited lipid storage disease characterized by ichthyosis, leukocyte lipid vacuoles, and involvement of several internal organs.
Nomura, Yuko, Sugawara, Makoto, Akiyama, Masashi, Sawamura, Daisuke, Shimizu, Hiroshi   +4 more
core   +1 more source

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis

International Journal of Women's Dermatology
Background:. Autosomal recessive congenital ichthyosis (ARCI) is a rare genodermatosis categorized among nonsyndromic ichthyoses. While ARCI patients often manifest hair abnormalities, their impact on the quality of life remains underreported in the ...
Anissa Zaouak, MD, Wafa Jouini, MD, Ghaith Abdessalem, PhD, Sonia Abdelhak, PhD, Houda Hammami, MD, Cherine Charfeddine, PhD, Samy Fenniche, MD   +6 more
doaj   +1 more source

LAMELLAR ICHTHYOSIS: ONE CASE REPORT

International Journal of Medical Reviews and Case Reports, 2019
Introduction: Ichthyosis is a heterogeneous group of skin disease characterized by generalized scaling. Lamellar ichthyosis is an autosomal recessive disorder with a mutation in the TGM 1 gene encodes the transglutaminase I protein was found. The scales reflect changes in epidermal differentiation.
openaire   +2 more sources

Congenital Lamellar Icthyosis (Collodion Baby)

, 2011
Lamellar ichthyosis, also known as ichthyosis lammellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people the images of this rare variety of skin disorder has been presented here.
B Baghel
core   +1 more source

Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report. [PDF]

J Orthop Case Rep, 2021
Sinha S, Sharma A, Gupta S, Agarwal A, Kanojia RK.   +4 more
europepmc   +1 more source

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

Oral Manifestations of Lamellar Ichthyosis; A Case Report

, 2009
Background: The name ichthyosis is derived from the Greek ikhthus meaning fish and refers to the similarity in appearance of the skin to fish scale. The ichthyoses are a heterogeneous group of disorders.
Hamamci, Nihal, Bolgul, Behiye, Akdeniz, Sedat, Celenk, Sema   +3 more
core  

Lamellar Ichthyosis [PDF]

, 2020
openaire   +3 more sources