research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
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research A NEW VITAMIN DEFICIENCY DETECTION SYSTEM
The system helps identify vitamin deficiencies early by analyzing symptoms.
research Analysis of Adverse Drug Reactions in Pediatric Patients with Epilepsy: An Intensive Pharmacovigilance Study
Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
research Ichthyosis, atopic dermatitis, and alopecia
research Response to Weinstein’s “Reply of Increased risk of vitamin D deficiency and insufficiency in Black patients with central centrifugal cicatricial alopecia.”
The authors maintain there is a significant link between vitamin D deficiency and central centrifugal cicatricial alopecia in Black patients, and call for more research on the topic.
research Polyomavirus Associated Trichodysplasia Spinulosa in a Pediatric Kidney Transplant Recipient
A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
research Fever, Maculopapular Rash and Severe Aphthous Stomatitis in a Renal Transplant Patient
The patient improved after antiviral treatment for a viral infection.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research P050 Rapidly worsening subcutaneous oedema in a young boy: a case of juvenile dermatomyositis
Juvenile dermatomyositis can worsen quickly and needs strong treatment.
research Monilethrix: A rare hereditary condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
research Skin Signs as the Presenting Manifestation of Severe Nutritional Deficiency
Severe nutritional deficiency can cause serious health and development issues, including skin problems and hair loss.
research 34006 Vitamin D deficiency in patients with lichen planopilaris/frontal fibrosing alopecia
Patients with lichen planopilaris/frontal fibrosing alopecia have a higher rate of vitamin D deficiency than the general US population.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research A case of acquired acrodermatitis enteropathica with a normal serum zinc level but a low level in the hair
Zinc supplements can help skin issues even if blood zinc levels are normal.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Vitamin D: A Bridging Element for Wellness; A Case Study on Vitamin D Deficiency and its Association with Alopecia Areata and Other Conditions
Vitamin D is crucial for health, and deficiency can cause hair loss and other health issues.
research Valproate-acid-induced cutaneous leukocytoclastic vasculitis.
Valproic acid can cause a skin condition called leukocytoclastic vasculitis, which usually gets better after stopping the drug.
research 598 Response to ritlecitinib treatment based on salt improvement scores in patients with alopecia areata (AA): Post hoc analysis of the allegro phase 2b/3 study
Ritlecitinib significantly improves scalp hair regrowth in alopecia areata patients over time.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Ion pairs of risedronate for transdermal delivery and enhanced permeation rate on hairless mouse skin
Ion-paired risedronate significantly increases skin penetration without irritation compared to risedronate alone.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Influence of Varying Levels of Dietary Minerals on the Development of Urolithiasis, Hair Growth, and Weight Gains in Rats
Changing mineral levels in rats' diets can prevent kidney stones, affect hair growth, and influence weight gain.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Uncommon Presentation of Pityriasis Rubra Pilaris of the Scalp: Clinical, Trichoscopic, and Histopathologic Features and Review of the Literature
Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.