Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis.
Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis. Dermatol Online J. 2019 Mar 15;25(3): Authors: Taghavi-Basmenj M, Razipour M, Davoudi-Dehaghani E, Nasimi M, Abghari FZ, Karimipoor M Abstract Inherited ichthyosis is a heterogeneous group of rare cutaneous disorders characterized by hyperkeratosis and scaly skin. So far, only a few genetic studies on ichthyosis have been performed in Iran. Herein, we reported a family with two cases of ichthyosis and hypotrichosis that were investigated by whole exome sequencing. Targeted data analysis identified a novel nonsense variant c.1243C>T (p.Gln415Ter) located at exon 11 of the ST14 gene in the proband. Sanger sequencing showed co-segregation of this mutation with the disease in this family. Further studies are needed to develop knowledge about the spectrum of changes in this gene and their effects on protein function and disease phenotype. PMID: 30982314 [PubMed - in process]
Line forming for clinic at 8 amIn the midst of a bustling remote mobile medical clinic on the western edge of Panama, Sam, our Floating Doctors clinic manager, approached me with his characteristic wide smile and easy manner. “We have a big family for you to see, with lots of kids!” he informed me in his soothing Kenyan accent. A queue of patients lined up outside well before our 8 am start time, and the clinic was now buzzing with midday activity in the warm, tropical air. The sounds of Spanish and a variety of Engl ish accents peppered the room. Outside the clinic, an open field served as home to a near-conti...
This article is protected by copyright. All rights reserved. PMID: 31278741 [PubMed - as supplied by publisher]
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Authors: Čepelak I, Dodig S, Pavić I Abstract There is an increasing number of experimental, genetic and clinical evidence of atopic dermatitis expression as a pre-condition for later development of other atopic diseases such as asthma, food allergy and allergic rhinitis. Atopic dermatitis is a heterogeneous, recurrent childhood disease, also present in the adult age. It is increasingly attributed to systemic features and is characterized by immunological and skin barrier integrity and function dysregulation. To maintain the protective function of the skin barrier, in particular the maintenance of pH, hydration a...
ConclusionThis study demonstrated a novelMBTPS2 mutation in a patient with IFAP syndrome and thus expands the knownMBPTS2 molecular repertoire.
This article is protected by copyright. All rights reserved. PMID: 31206590 [PubMed - as supplied by publisher]
Netherton Syndrome (NS) is a severe type of ichthyosis characterized by extensive desquamation, hair shaft defect (bamboo hair) and constant atopic manifestations. NS is caused by inactivating mutations in the SPINK5 gene encoding the serine protease inhibitor LEKTI  and is recapitulated in Spink5-/- mice . Due to the atopic manifestations and the associated constitutive inflammation, Spink5-/- mice have served as an atopic dermatitis model  and as a model for rosacea . In addition, variants in the SPINK5 gene have been found in cases of atopic dermatitis [5 –7].
This article reviews subtypes of ichthyosis, with a focus on EHK, genetics behind the disease, recently reported mutations, the existing diagnostics and treatments for the same and potential of new modalities in diagnosis/treatment. PMID: 31190940 [PubMed]
AbstractIntroductionPsoriasis is estimated to affect 0.44 –2.8% of the Indian population. Moisturizers are a key adjuvant psoriasis treatment strategy, but data regarding their effectiveness, safety and compliance pattern in an Indian context are lacking. Hence, this real-world study on an intensive plant-based butter moisturizing cream (Venusia® Max) was conducted among Indian patients with psoriasis.MethodsThis was an observational, patient-reported outcomes (PRO) study in patients with psoriasis aged 18 –75 years who were prescribed the cream in routine clinical practice, as per clinician’s di...