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About 194 results

ALLMedicine Harlequin Ichthyosis Center

Research & Reviews  97 results

Increased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.
https://doi.org/10.1111/pde.14066
Pediatric Dermatology REFERENCES; McKenzie S, Arzeno J et. al.

Nov 25th, 2019 - An increased number of melanocytic nevi and lentigines have been reported in patients with two types of autosomal recessive congenital ichthyosis (ARCI): lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. These melanocytic l...

Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, ha...
https://doi.org/10.1016/j.jaapos.2019.08.274
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus; Khalili A, Schear M et. al.

Oct 6th, 2019 - Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, ...

Harlequin Ichthyosis
https://emedicine.medscape.com/article/1111503-overview

May 6th, 2019 - Background Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. [1] Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. The affected neonate is born with a massiv...

Harlequin Ichthyosis 
https://emedicine.medscape.com/article/1111503-print

May 6th, 2019 - Background Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis.[1] Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. The affected neonate is born with a massive...

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis pati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032
Molecular Genetics & Genomic Medicine; Montalván-Suárez M, Esperón-Moldes US et. al.

Mar 27th, 2019 - Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI ...

see more →

Clinicaltrials.gov  97 results

Increased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.
https://doi.org/10.1111/pde.14066
Pediatric Dermatology REFERENCES; McKenzie S, Arzeno J et. al.

Nov 25th, 2019 - An increased number of melanocytic nevi and lentigines have been reported in patients with two types of autosomal recessive congenital ichthyosis (ARCI): lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. These melanocytic l...

Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, ha...
https://doi.org/10.1016/j.jaapos.2019.08.274
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus; Khalili A, Schear M et. al.

Oct 6th, 2019 - Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, ...

Harlequin Ichthyosis
https://emedicine.medscape.com/article/1111503-overview

May 6th, 2019 - Background Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. [1] Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. The affected neonate is born with a massiv...

Harlequin Ichthyosis 
https://emedicine.medscape.com/article/1111503-print

May 6th, 2019 - Background Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis.[1] Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. The affected neonate is born with a massive...

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis pati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032
Molecular Genetics & Genomic Medicine; Montalván-Suárez M, Esperón-Moldes US et. al.

Mar 27th, 2019 - Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI ...

see more →