research Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair
Giant axonal neuropathy changes the structure of keratin in human hair.
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960-990 / 1000+ resultsresearch Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Dermatoscopy of hair shaft disorders
Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research 194 An underlying mechanism of hair loss in acrodermatitis enteropathica
Zinc deficiency disrupts hair growth and cycle, but zinc supplements can fix this.
research Tufted Hair Folliculitis Decalvans as a Clinical Diagnostic Sign
Early diagnosis of tufted hair is crucial for managing folliculitis decalvans, a chronic scalp condition.
research Generalized Hair Casts Due to Traction
Hair casts can be treated with physical removal and special shampoos.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
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 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 Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Plica Neuropathica (Polonica) Secondary to Diffuse Alopecia: A Case Report and Literature Review
Plica neuropathica can occur with diffuse alopecia and should be considered in diagnosis.
research Acute Bullous Dermatosis and Onycholysis due to High-Dose Methotrexate and Leucovorin Calcium
High-dose methotrexate can cause severe skin and nail issues.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research The usefulness of dermoscopy in canine pattern alopecia: a descriptive study
Dermoscopy is useful for diagnosing hair loss patterns in dogs.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Clinical approach to focal hairless patch with dermoscopy
Dermoscopy helps diagnose different hair loss conditions, and characteristics vary among ethnicities and individual cases.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research THE EXPRESSION AND INTERACTION OF HEREDITARY FACTORS PRODUCING HYPOTRICHOSIS IN THE MOUSE: HISTOLOGY AND EXPERIMENTAL RESULTS
Hereditary factors cause hair loss in mice by affecting skin and hair follicle structure.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research Vainas peripilares
The girl's "dandruff" was actually harmless hair casts, not a hygiene issue.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells
Clim proteins are essential for maintaining healthy corneas and hair follicles.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.