ALLMedicine™ Ichthyosis Center

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...

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...

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,|

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...

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

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...

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...

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...

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 ...

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...

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...

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.

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.

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.

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...

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.