research 880 Gasdermin A3-mediated cell death causes niche collapse and precocious activation of hair follicle stem cells
Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
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810-840 / 1000+ resultsresearch Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research A case of red lunulae after haematopoietic stem cell transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
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 Hairless protein of Jumonji family and hair loss
Mutations in the hairless protein gene cause hair loss.
research Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism
Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research A Case of Hair-loss Due to the Vitamin and Mineral Deficiencies in Holstein Cows
research 25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis
The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research High Frequency of Symptomatic Zinc Deficiency in Infants in Northern Ethiopia
Many infants in Northern Ethiopia have zinc deficiency.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research 190 A cross-sectional study evaluating skin, hair, nail and bone disease in patients with focal dermal hypoplasia
Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
research TRICHOSCOPY AS A NON-INVASIVE TOOL FOR THE DIAGNOSIS OF DEFICIENCIES OF VITAMIN B12, VITAMIN D3 AND SERUM FERRITIN
Trichoscopy can help diagnose Vitamin B12, Vitamin D3, and ferritin deficiencies without blood tests.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.