research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
Search
for
Sort by
Research
210-240 / 1000+ resultsresearch Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
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 Management of Dermatologic Toxicities
Doctors should actively prevent and treat skin side effects in cancer patients to keep them on the best medication and reduce discomfort.
research Frontal fibrosing alopecia: a disease that remains enigmatic
Frontal fibrosing alopecia is a poorly understood condition with increasing cases and unclear treatment effectiveness.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research Erosive pustular dermatosis of the scalp induced by gefitinib: case and review of the literature
An 84-year-old man developed a rare scalp condition from a cancer drug but continued treatment as it was otherwise well tolerated.
research Cutaneous Adverse Events of Targeted Anticancer Therapy: A Review of Common Clinical Manifestations and Management
Targeted anticancer therapies often cause skin issues, affecting treatment adherence and quality of life.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Alopecia Areata of the Nails: Diagnosis and Management
Alopecia Areata can affect nails, often improving on its own, but JAK inhibitors may help.
research Koilonychia in a Patient with Alopecia Areata.
Koilonychia in alopecia areata can improve with oral corticosteroids.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Dermatoses in Postmenopausal Women in a Tertiary Health Care Center of Bihar: A Prospective Cross-Sectional Study
Most postmenopausal women experience significant skin changes and various skin conditions.
research Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds
Transglutaminase activity is important for skin and is found in both mammals and birds.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research A Comprehensive Literature Review of JAK Inhibitors in Treatment of Alopecia Areata
JAK inhibitors show promise in effectively treating hair loss from alopecia areata.
research Screening Guidelines for Thyroid Function in Children With Alopecia Areata
Children with alopecia areata should only have thyroid screening if they have Down syndrome, a history of atopy, family history of thyroid disease, or signs of thyroid problems.
research Vitamin A toxicity: When one a day doesn't keep the doctor away
Vitamin A toxicity can cause severe health issues and may require a liver transplant if other treatments fail.
research Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management
Selumetinib causes skin and hair side effects in kids with NF1, affecting treatment and quality of life.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Biomechanical Factors in Psoriatic Disease: Defective Repair Exertion as a Potential Cause. Hypothesis Presentation and Literature Review
Defective repair processes may cause immune activation and inflammation in psoriatic disease.
research Acetyl-CoA synthesis in the skin is a key determinant of systemic lipid homeostasis
Skin acetyl-CoA synthesis is crucial for overall lipid balance.
research Collagen Involvement in Health, Disease, and Medicine
Collagen is crucial for health and treating certain diseases, and supplements can improve skin, nails, and hair conditions.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Cutaneous manifestations of chronic kidney disease - A cross sectional study
Most patients with chronic kidney disease had skin issues like paleness and dry skin, and treating these can improve their lives.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.