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About 202 results

ALLMedicine™ Harlequin Ichthyosis Center

Research & Reviews  101 results

Harlequin ichthyosis from birth to 12 years.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451270
BMJ Case Reports; Heap J, Judge M et. al.

Aug 27th, 2020 - A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly....

3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456239
The Journal of Clinical Investigation; Enjalbert F, Dewan P et. al.

Jun 16th, 2020 - The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, is poorly understood, and to date, no satisfactory treatment has been developed. We sought to investigate pathomechanism...

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...

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Clinicaltrials.gov  101 results

Harlequin ichthyosis from birth to 12 years.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451270
BMJ Case Reports; Heap J, Judge M et. al.

Aug 27th, 2020 - A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly....

3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456239
The Journal of Clinical Investigation; Enjalbert F, Dewan P et. al.

Jun 16th, 2020 - The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, is poorly understood, and to date, no satisfactory treatment has been developed. We sought to investigate pathomechanism...

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...

see more →