research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
Search
for
Sort by
Research
360-390 / 1000+ results research Upadacitinib for the treatment of refractory alopecia areata in pediatric patients: A retrospective study
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
The Apc gene is crucial for normal skin and thymus development.
research Efficacy of the phosphodiesterase-4 inhibitor, apremilast, in a patient with severe alopecia areata
The document did not conclude on apremilast's effectiveness for severe alopecia areata.
research When Catastrophic Antiphospholipid Syndrome Meets Acquired Haemophilia A ; A Diagnostic and Management Challenge in Newly Diagnosed Systemic Lupus Erythematosus
Early recognition and a multidisciplinary approach are crucial for effectively managing complex autoimmune conditions like SLE with CAPS and AHA.
research Dodatek A: Model matematyczny AL/RC/ASE. Functional Androgen Axis (FOA) - wersja operacyjna v1.2
The model improves understanding of androgen interactions by focusing on signal intensity and system capacity.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Glossary
research Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
research Autolougous platelet concentrates in esthetic medicine
Autologous platelet concentrates show promise in esthetic treatments but need more standardized research.
research Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) Conference
The conference concluded with plans for joint research into children's skin conditions and emphasized the importance of collaboration and patient-focused research.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Adult patients with alopecia areata report a significantly better medication adherence compared to those with atopic dermatitis: Results from a large cross-sectional cohort study
Adults with alopecia areata stick to their medication better than those with atopic dermatitis.
research Meeting Abstracts
research THE HEART OF IT ALL: DILATED CARDIOMYOPATHY AS THE INITIAL PRESENTATION OF ANTIPHOSPHOLIPID SYNDROME
Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
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 Keeping Our Eye on the Ball: The American Society of Preventive Oncology in 2009
Cancer prevention is crucial, with a focus on research and improved screening methods.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research Bioinspired peptides designed for hair perming and dyeing with potential for repair
PepACS offers a safer, eco-friendly way to perm, dye, and repair hair.
research Atrichia with papular lesions mimicking alopecia areata universalis
The man's hair loss and skin papules were diagnosed as atrichia with papular lesions, not alopecia areata universalis.
research 47th Annual Conference of AOMSI
research Scientific Abstracts of 48th Annual conference of AOMSI, Kolkata, 2024
research Improved anaphylaxis referral rates to specialized services from an Emergency Department
Referral rates for anaphylaxis patients improved significantly after implementing guidelines.
research Novel amino acid‐based surfactant for silicone emulsification and its application in hair care products: a promising alternative to quaternary ammonium cationic surfactants
N‐AOHPA is a promising alternative to traditional surfactants for better hair conditioning.
research 45th Annual Scientific Meeting
research Conference Abstracts from the 12th Asian Scientific Meeting of Pediatric Dermatology in Manila, Philippines, 5–7 November 2025
Early diagnosis and targeted therapy improve outcomes for children with skin conditions.
research A Large Cross-Sectional Survey Study of the Prevalence of Alopecia Areata in the United States
Alopecia areata affects many in the US, impacting quality of life, with limited treatment options.