Results 111 to 120 of about 766 (133)
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Maternal Skin Allograft for Cicatricial Ectropion in Congenital Icthyosis

Ophthalmic Plastic and Reconstructive Surgery, 2010
Santosh G. Honavar, Milind N Naik
exaly   +2 more sources

HARLEQUIN ICTHYOSIS: A RARE CASE REPORT

International Journal of Medical Research & Health Sciences, 2016
Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1: 300, 000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very
Pradipprava Paria   +4 more
semanticscholar   +2 more sources

Three Unusual Siblings with Harlequin Icthyosis in an Indian Family

The Journal of Dermatology, 2000
AbstractHarlequin fetuses occurring as three siblings in an Indian family are described here. All three were preterm, low birth weight, and did not survive. There was no history of consanguinous marriage in the parents or in the family. Thus autosomal recessive inheritence appears to be a remote possibility, although not impossible or, as recently ...
R. Sarkar   +7 more
semanticscholar   +3 more sources

Lamellar icthyosis – A case report of a Nigerian child

, 2018
Lamellar Ichthyosis (LI) is an autosomal recessive disorder with an incidence of less than 1 in 3 blacks. Lamellaricthyosis is usually diagnosed based on the history of collodion membrane at birth and the characteristic appearance of scales especially on the skin.
C. Madubuko, A. Benson
semanticscholar   +3 more sources

Extensive Icthyosis Uteri with in situ Carcinoma

2022
Jyoti Kiran Kudrimoti   +2 more
exaly   +2 more sources

CONGENITAL ICTHYOSIS (HARLEQUIN FOETUS)

Obstetrical and Gynecological Survey, 1958
exaly   +2 more sources

Phenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract

Cerebellum
J. Nandana   +7 more
semanticscholar   +1 more source

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