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About 209 results

ALLMedicine™ Harlequin Ichthyosis Center

Research & Reviews  103 results

Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981911
BMC Medical Imaging; Zhou Y, Li L et. al.

Mar 21st, 2021 - Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There ar...

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 Americ... 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, ...

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Clinicaltrials.gov  105 results

Despite New Ichthyosis Treatment Recommendations, 'Many Questions Still Exist'
https://www.medscape.com/viewarticle/949188

Apr 12th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. According to a consensus statement published in the February issue of Pedi...

Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981911
BMC Medical Imaging; Zhou Y, Li L et. al.

Mar 21st, 2021 - Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There ar...

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...

see more →

News  1 results

Despite New Ichthyosis Treatment Recommendations, 'Many Questions Still Exist'
https://www.medscape.com/viewarticle/949188

Apr 12th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. According to a consensus statement published in the February issue of Pedi...

see more →