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.
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750-780 / 1000+ results research 3D-Hautmodelle von Patienten mit Small Fiber Neuropathie
A protocol was developed to create 3D skin models from adult diseased cells to study Small Fiber Neuropathy.
research Advances in Dermatology
New insights in skin conditions show a complex link between certain moles and melanoma, improved hair loss treatments, and the need to identify different types of lupus.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research 0847 The addition of collagen scaffolds to human cell therapy to modify skin identity
Collagen scaffolds in cell therapy can transform skin to be more resilient and pressure-responsive.
research Necl2 regulates epidermal adhesion and wound repair
Necl2 affects skin cell behavior and slows wound healing.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Azathioprine‐induced alopecia and leukopenia associated with NUDT 15 polymorphisms
Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
research Registrars and Fellows Update Session 2
The session covered updates on skin treatments, including radiotherapy, imiquimod, acitretin, JAK inhibitors, and strategies for managing rosacea and preventing surgical infections.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report
A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
research Claudin Expression Modulations Reflect an Injury Response in the Murine Epidermis
Claudin expression changes help the skin respond to injury.
research A Middle-Aged Man Presenting with a New Asymmetrical Poikilodematous Erythema on the Lateral Neck
A man developed a unique rash on his neck after taking niacinamide, and doctors recommend considering niacinamide as a cause for similar rashes and using dermatoscopy for diagnosis.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Re: Dermmatch, Inc.
research Acne/Folliculitis Keloidalis
Acne keloidalis nuchae is a hair loss condition affecting men of African descent, causing scar-like bumps on the scalp and neck.
research Cicatricial alopecia/lichen planopilaris-the Cleveland clinic foundation experience on evaluation, diagnosis and treatment
Middle-aged women with cicatricial alopecia/lichen planopilaris responded well to treatments like ketoconazole shampoo and steroids.
research Pulling force deforms hair follicle root sheath nuclei and surrounding dermal collagen matrix differently at infundibulum, isthmus and suprabulbar regions
Hair follicles respond differently to pulling forces in various regions.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Diagnostic approach to low‐renin hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research Genetics of thyroid lesions updated
RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
research Dupilumab for prurigo nodularis: real-world outcomes up to 104 weeks from the Dupilumab Italian Prurigo Nodularis (DUPItaPN) study
Dupilumab effectively reduces symptoms of prurigo nodularis and is safe for long-term use.
research Multi-dermatomal unilateral nevus comedonicus along the lines of Blaschko: a rare presentation
A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.