Results 41 to 50 of about 19,609 (184)

Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review. [PDF]

An Bras Dermatol, 2023
Background Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset, prenatal screening for HI is extremely difficult, and most pregnant women ...
Liu Z, Jing C.
europepmc   +2 more sources

A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area. [PDF]

Cureus, 2023
Harlequin ichthyosis (HI) is a severe and rare genetic anomaly that affects skin development and leads to the formation of thick, diamond-shaped plates of keratinized skin.
Lainingwala AC, Gajula S, Fatima U, Afroze S, Posani S, Moondra M, Mangukiya NP, Parmar MP, Venugopal V.   +8 more
europepmc   +2 more sources

Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis. [PDF]

J Obstet Gynaecol India, 2019
Kataria S, Ajmani SN.
europepmc   +4 more sources

Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing. [PDF]

Front Pediatr, 2023
Background Harlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies.
Tran VK, Diep QM, Zilong Q, Phuong LT, Tran HA, Van Tung N, Lien NTK, Xuan NT, Ha LT, Van Ta T, Tran TH, Hoang NH.   +11 more
europepmc   +2 more sources

Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]

Pan Afr Med J
A full-term newborn male was delivered via spontaneous vaginal delivery, with a birth weight of 2.9 kg. At birth, the neonate presented with multiple dysmorphic features and extensive congenital skin abnormalities.
Tamgadge A, Gomase K.
europepmc   +2 more sources

Harlequin Ichthyosis Nanobubble Hydrotherapy: A Breakthrough in Treatment. [PDF]

Cureus
This case report details the management of a 10-year-old female pediatric patient with Harlequin ichthyosis (HI), a challenging skin disorder characterized by the production of 40 times the normal skin without trifats, leading to recurrent splits and ...
Stark P, Radigan H, Aziz Y.
europepmc   +2 more sources

Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review. [PDF]

Case Rep Dermatol Med
Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ...
Bahashwan E, Alfaifi J, Mohamed Moursi SE, Soliman YE.   +3 more
europepmc   +2 more sources

Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]

Journal of Clinical and Diagnostic Research, 2015
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between.
Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal   +4 more
doaj   +1 more source

Congenital ichthyosis presentation and outcome - A case series

Journal of Family Medicine and Primary Care, 2023
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari, Vinaya A. Singh, Kailas G. Randad, Prasoon Bansal   +3 more
doaj   +1 more source

The Genetics of Atopic Eczema in the Bangladeshi population of East London [PDF]

, 2009
PhDAtopic Eczema (AE) is a common, complex, genetic skin disease. It usually begins in infancy and can affect any part of the body but often occurs in the flexures of the elbows and knees. The cohort used in this study is of Bangladeshi origin and all
Sinclair, Claire
core   +4 more sources