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About 2,315 results

ALLMedicine™ Ichthyosis Center

Research & Reviews  775 results

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
https://doi.org/10.1007/s00439-023-02527-3
Human Genetics; Shamseldin HE, Derar N et. al.

Jan 31st, 2023 - Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families re...

Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome.
https://doi.org/10.1111/pde.15258
Pediatric Dermatology; Luu Y, Pithadia DJ et. al.

Jan 30th, 2023 - Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, str...

Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK an...
https://doi.org/10.1093/bjd/ljac015
The British Journal of Dermatology; Moss C, Roked F et. al.

Jan 24th, 2023 - Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.|2023|Moss C,Roked F,Davis PJ,Khan M,Tyler C,|

Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis...
https://doi.org/10.1111/pde.15255
Pediatric Dermatology; Bourkas AN, Pope E et. al.

Jan 20th, 2023 - Congenital ichthyosis is a genodermatosis characterized by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant comorbidities and associated mortality, with most compl...

Erratum to: Interleukin-18 as a severity marker and novel potential therapeutic target ...
https://doi.org/10.1093/ced/llad006
Clinical and Experimental Dermatology;

Jan 20th, 2023 - Erratum to: Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.|2023||

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Guidelines  1 results

Management of congenital ichthyoses: European guidelines of care, part two.
https://doi.org/10.1111/bjd.16882
The British Journal of Dermatology; Mazereeuw-Hautier J, Hernández-Martín A et. al.

Jun 14th, 2018 - These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consens...

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Drugs  54 results see all →

Clinicaltrials.gov  28 results

The ASCEND Study: Evaluating TMB-001 in the Treatment of RXLI or ARCI Ichthyosis
https://clinicaltrials.gov/ct2/show/NCT05295732

Jan 18th, 2023 - This is a multicenter, randomized, double-blind, vehicle-controlled Phase III study to evaluate the efficacy and safety of TMB-001 0.05% topical ointment in the treatment of CI. Subjects will be selected according to predefined entry criteria. The...

Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
https://clinicaltrials.gov/ct2/show/NCT02089789

Dec 16th, 2022 - Congenital disorders of glycosylation (CDGs) are a group of diseases characterized by an abnormal glycosylation of proteins, but that can also result from an abnormal synthesis of glycosaminoglycans, glycophospholipids or glycosylphosphatidylinosi...

A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)
https://clinicaltrials.gov/ct2/show/NCT02402309

Dec 13th, 2022 - This is a multi-center, randomized, double-blind, vehicle-controlled, parallel-group study designed to evaluate the safety, pharmacokinetic (PK), and exploratory activity of topically-applied NS2 dermatologic cream administered once-daily (QD) to ...

Quality of Life in Middle-aged and Older Patients With Congenital Ichthyosis
https://clinicaltrials.gov/ct2/show/NCT05610306

Nov 18th, 2022 - There is limited knowledge on factors affecting the quality of life in patients with ichthyosis, especially in middle-aged and elderly patients. With this study the investigators aim to study the impact of inherited ichthyosis on the biological-ps...

ADX-629 Therapy for Sjogren-Larsson Syndrome
https://clinicaltrials.gov/ct2/show/NCT05443685

Nov 10th, 2022 - Sjögren-Larsson syndrome (SLS) is a rare inherited disorder of fatty aldehyde metabolism characterized by congenital ichthyosis, spastic diplegia, intellectual disability, seizures and a distinctive retinopathy. The disease is caused by bi-allelic...

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News  54 results

Polycyclic Scaly Eruption
https://www.mdedge.com/dermatology/article/257826/pediatrics/polycyclic-scaly-eruption
Georgeanne Cornell, DO, Stuart Gildenberg, MD

Sep 14th, 2022 - The Diagnosis: Netherton Syndrome A punch biopsy from the right lower back supported the clinical diagnosis of ichthyosis linearis circumflexa. The patient underwent genetic testing and was found to have a heterozygous mutation in the serine prote.

Rippled Macules and Papules on the Legs
https://www.mdedge.com/dermatology/article/255246/mixed-topics/rippled-macules-and-papules-legs
Kieu Oanh Nguyen, MD, Kristopher M. Peters, DO

Jun 7th, 2022 - The Diagnosis: Cutaneous Amyloidosis A punch biopsy confirmed the diagnosis of cutaneous amyloidosis, which is characterized by the deposition of amyloid proteins in the skin without systemic involvement. Subtypes of cutaneous amyloidosis include.

Novel isotretinoin ointment for congenital ichthyosis shows promise
https://www.mdedge.com/dermatology/article/253202/medical-dermatology/novel-isotretinoin-ointment-congenital-ichthyosis
Doug Brunk

Mar 27th, 2022 - BOSTON – Patients with recessive X-linked and autosomal recessive lamellar congenital ichthyosis (CI) achieved treatment success with a novel topical isotretinoin ointment known as TMB-001, results from a phase 2b study demonstrated. “Patients wit.

Novel Isotretinoin Ointment For Congenital Ichthyosis Shows Promise
https://www.medscape.com/viewarticle/970990

Mar 27th, 2022 - Patients with recessive X-linked and autosomal recessive lamellar congenital ichthyosis (CI) achieved treatment success with a novel topical isotretinoin ointment known as TMB-001, results from a phase 2b study demonstrated. "Patients with these d...

Clinical genetic testing for skin disorders continues to advance
https://www.mdedge.com/dermatology/article/245819/pediatrics/clinical-genetic-testing-skin-disorders-continues-advance
Doug Brunk

Sep 8th, 2021 - With more than 300 genetic skin disorders involving more than 1,000 genes and hundreds of genetic tests available on the market, it can be daunting for health care providers and families of pediatric patients to navigate the landscape. Dr.

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Patient Education  14 results see all →