research Atrichia with Papular Lesions: Dermoscopy to the Rescue
Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
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720-750 / 1000+ results research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Dumhetens rum i bildningens mitt
CRISPR-Cas9 successfully edited genes in Cashmere goats, affecting hair growth.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research The effects of oestrogens on linear bone growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
Combining minoxidil and plant extracts improved hair growth in a boy with a rare genetic disorder.
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 Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research News in brief
Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.