A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

ConclusionThis study demonstrated a novelMBTPS2 mutation in a patient with IFAP syndrome and thus expands the knownMBPTS2 molecular repertoire.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Authors: Payne J, Habet KA, Pona A, Feldman SR Abstract BACKGROUND: Topical corticosteroids are efficacious treatment options for multiple dermatoses. However, ointments and cream corticosteroid vehicles can be cumbersome to patients and may act as a barrier to adherence. Foam vehicles may be preferred by some patients. OBJECTIVE: To evaluate the efficacy and safety of topical corticosteroid foams. METHODS: A literature review was conducted using the keywords “clobetasol,” “betamethasone,” “propionate,” “valerate,” “topical,” “foam,” “v...
Source: Journal of Drugs in Dermatology - Category: Dermatology Tags: J Drugs Dermatol Source Type: research
Conditions:   Lumbar Disc Disease;   Lumbar Disc Herniation;   Low Back Pain, Mechanical;   Low Back Strain Intervention:   Other: Effectiveness of four physical therapy approaches (soft tissue manual therapy, Kinesio® Taping techniques, stabilization exercises and reflex therapy) for treating lumbar disc pathologies. Sponsor:   Guven Health Group Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
No abstract available
Source: Pancreas - Category: Gastroenterology Tags: Letters to the Editor Source Type: research
Sarepta Therapeutics Inc said on Monday the U.S. Food and Drug Administration declined to approve its newest treatment for Duchenne muscular dystrophy (DMD), citing safety concerns including the risk of infection and kidney toxicity.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
ABSTRACT Cicatricial ectropion may be a consequence of certain systemic diseases as well as the result of drug use. Our goal here was to research the different causes of this condition as reported in the literature, including more recently suspected etiologies. A detailed PubMed literature search indicated many different etiologies were associated with cicatricial ectropion development, from severe cases of systemic diseases, such as ichthyosis and lupus erythematosus, to reversible scenarios secondary to anti-glaucomatous drug use. More recently reported connections include periorbital necrotizing fasciitis, frontal osteo...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
ABSTRACT Cicatricial ectropion may be a consequence of certain systemic diseases as well as the result of drug use. Our goal here was to research the different causes of this condition as reported in the literature, including more recently suspected etiologies. A detailed PubMed literature search indicated many different etiologies were associated with cicatricial ectropion development, from severe cases of systemic diseases, such as ichthyosis and lupus erythematosus, to reversible scenarios secondary to anti-glaucomatous drug use. More recently reported connections include periorbital necrotizing fasciitis, frontal osteo...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
ABSTRACT Cicatricial ectropion may be a consequence of certain systemic diseases as well as the result of drug use. Our goal here was to research the different causes of this condition as reported in the literature, including more recently suspected etiologies. A detailed PubMed literature search indicated many different etiologies were associated with cicatricial ectropion development, from severe cases of systemic diseases, such as ichthyosis and lupus erythematosus, to reversible scenarios secondary to anti-glaucomatous drug use. More recently reported connections include periorbital necrotizing fasciitis, frontal osteo...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
The FDA has denied Sarepta Therapeutics ’ application for its second Duchenne muscular dystrophy treatment, despite the company producing twice the amount of data behind its controversial first product approval in 2016. Sarepta (Nasdaq: SRPT) had hoped to launch a treatment called golodirsen that would have doubled its reach among youn g boys with the disease. The drug, like Sarepta’s sole commercial treatment, was developed to skip over the faulty gene that prevents young boys with the disease…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
ASK THE GP: My hair has been falling out since I had a pacemaker fitted three years ago. I was taking bisoprolol tablets, which I know can cause hair loss, but changing to a different medicine hasn't helped.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
tyn E Abstract Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and som...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
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