research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
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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 Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Sebaceous gland diseases: clinical picture risk factors and treatment
Different sebaceous gland diseases can be treated with medications, hormone therapy, or surgical methods.
research Novel diagnostic tools and markers for inflammatory skin diseases
A new test using NOS2 and CCL27 genes can better diagnose and treat psoriasis and eczema.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research LB1031 Immune Cell-Mediated Amplification of Stem Cell Activation in Hairy Melanocytic Nevus via Osteopontin-CD44 Axis
Immune cells boost stem cell activity in hairy moles, causing more hair growth.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Skin disorders in elderly subjects
Every elderly patient had at least one skin condition, often linked to other diseases, highlighting the need for integrated skin and general healthcare in the elderly.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Androgenetische Alopezie
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Skin disease related to metabolic syndrome in women
Certain skin conditions in women are linked to higher risks of metabolic syndrome and type 2 diabetes due to hormone imbalances.
research Folliculitis decalvans and orofacial granulomatosis
Treatment with dapsone, topical corticosteroids, and antibiotics improved the man's skin conditions.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research ATUALIDADES NA SAÚDE E BEM-ESTAR ANIMAL, VOLUME 9
Dermatophytosis is a fungal skin infection affecting animals and humans, common in cooler seasons.
research Skin Disease
Skin diseases can greatly affect daily life and require careful treatment and medication review.
research Upper Eyelid Nodule - An Unusual Presentation of Ocular Demodicosis
A 62-year-old woman got a lump on her eyelid from tiny mites, which is the first time this has happened.
research Generalized pustular toxic erythema: pathogenetic relationship between pustule and epidermal appendage (hair follicle or sweat duct)
Pustules in toxic erythema are linked to hair follicles or sweat ducts.
research The molecular puzzle of autoinflammatory skin diseases—a review of chosen conditions
Autoinflammatory skin diseases are complex, increasingly common, and significantly affect quality of life.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Fungal Zoonoses
Fungal infections like ringworm affect skin, hair, and nails in humans and animals, requiring culture for diagnosis and specific treatments.