research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
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900-930 / 1000+ results research Conversion of C57Bl/6 mice from a tumor promotion–resistant to a –sensitive phenotype by enhanced ornithine decarboxylase expression
Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
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 Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Human T‐lymphotropic virus 1 (HTLV‐1)‐associated lichenoid dermatitis induced by CD8+ T cells in HTLV‐1 carrier, HTLV‐1‐associated myelopathy/tropical spastic paraparesis and adult T‐cell leukemia/lymphoma
HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
research Disrupted Pancreatic Exocrine Differentiation and Malabsorption in Response to Chronic Elevated Systemic Glucocorticoid
High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
research HAIR DEPIGMENTATION AND DERMATITIS – AN UNEXPECTED PRESENTATION OF CYSTIC FIBROSIS
Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
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 Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Dermal Mass Aspirate from a Persian Cat
The Persian cat has a skin infection caused by a fungus, treatable with antifungal medication.
research CUBIC Protocol Visualizes Protein Expression at Single Cell Resolution in Whole Mount Skin Preparations
The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Lichenoid dermatitis from interferon alpha-2a in a patient with metastatic renal cell carcinoma and seronegative HCV
A patient with advanced kidney cancer and no hepatitis C developed skin inflammation due to a drug called interferon alpha-2a.
research Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
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 Trichoblastic Carcinoma
Trichoblastic carcinoma may be a distinct type of skin cancer different from basal cell carcinoma.
research Dissecting Fibroblast Heterogeneity in Health and Fibrotic Disease
Different types of fibroblasts play various roles in both healthy and diseased tissues, and understanding them better could improve treatments for fibrotic diseases.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Анализ комплекса информационных параметров, характеризующих состояние печени собак репродуктивного возраста при патологиях
HOTTIP and miR-10b may be targeted to improve glioma treatment by reducing resistance to chemotherapy.
research Monilethrix with Acitretin
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
research 1419 Pre-clinical in-vitro assays for high throughput screening of drug candidates for protection and restoration of immune privilege in alopecia areata
The research developed methods to test drugs that could protect and restore hair follicle protection in a hair loss condition.
research Skin-infiltrating CD4+ lymphoma cells depend on hair follicle-derived IL-7
Hair follicles produce IL-7, which is essential for certain skin lymphoma cells to survive.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Distinguishing histopathologic features of acantholytic dermatoses and the pattern of acantholytic hypergranulosis
Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.