research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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420-450 / 1000+ results research Bilateral non-specific orbital inflammation (orbital "pseudotumour"), posterior scleritis, and anterior uveitis associated with hypothyroidism in a child
Intralesional cidofovir might be a viable alternative treatment for certain conditions.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research 051 γδ T cells as novel players in alopecia areata pathobiology: Vδ1 + T lymphocytes may recognize “stressed” hair follicle keratinocytes, leading to IFNγ-dependent hair follicle dystrophy and immune privilege collapse
Targeting specific T cells may help treat alopecia areata.
research Moth-eaten alopecia and beyond: Syphilitic alopecia - Revisited
Syphilitic alopecia can be effectively diagnosed and treated, leading to hair regrowth.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Trichostasis spinulosa: An overlooked entity
Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
research Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/− Mice
Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research LRIG1 is a positive prognostic marker in Merkel cell carcinoma and Merkel cell carcinoma expresses epithelial stem cell markers
LRIG1 is linked to better survival in Merkel cell carcinoma.
research Particle-based transcutaneous administration of HIV-1 p24 protein to human skin explants and targeting of epidermal antigen presenting cells
This method is effective for needle-free HIV-1 vaccination by activating immune responses in the skin.
research Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Microscopic anatomy of the skin of the woodchuck (Marmota monax): comparison of woodchuck hepatitis virus-infected and non-infected animals.
WHV infection does not affect woodchuck skin anatomy.
research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
research ТУБЕРОЗНЫЙ СКЛЕРОЗ (БУРНЕВИЛЛЯ-ПРИНГЛА). ОБЗОР ЛИТЕРАТУРЫ
Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
research Skin diseases associated with hepatitis C virus: Facts and controversies
Hepatitis C virus can cause skin diseases and dermatologists play a crucial role in identifying these conditions.
research Identification of the Novel Membrane-Associated Protein AgK114 on Hamster Keratinocytes Recognized by a Monoclonal Antibody K114
AgK114 protein helps in hamster skin injury recovery.
research Clinical Snippets
Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
research Secondary syphilis presenting with alopecia and leukoderma in a stable HIV-positive patient in a resource-limited setting: a case report
Syphilis can cause hair loss and skin changes in HIV-positive patients, and proper treatment can resolve these symptoms.
research Immunoperoxidase anti-keratin staining of epidermal and pilar cysts
Epidermal cysts come from the skin, while pilar cysts come from hair follicles.
research ANTI-CD19 MONOCLONAL ANTIBODY FOR SYSTEMIC LUPUS ERYTHEMATOSUS AND NEUROMYELITIS OPTICA SPECTRUM DISORDER
Anti-CD19 therapy may help treat SLE and NMOSD.
research Syphilis: A great imitator
Syphilis has a wide range of symptoms that can look like other diseases, and if not treated, it can progress to a more serious stage, especially in HIV-positive patients.
research Psoriasis patients demonstrate HLA-Cw*06:02 allele dosage-dependent T cell proliferation when treated with hair follicle-derived keratin 17 protein
Psoriasis patients' immune response to a hair protein depends on their specific gene type.