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630-660 / 1000+ resultsresearch Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research The Cytology and Cytochemistry of the Wool Follicle
Wool follicles are complex, involving interactions between different cell types and structures.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Chikungunya virus infection in the skin: histopathology and cutaneous immunological response
Chikungunya virus often causes skin issues and inflammation.
research Data Sheet 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.docx
Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.
research Pleomorphic Appearance of Breast Cancer Cutaneous Metastases
Breast cancer skin metastases are rare, look different, and can be confused with other skin issues, so a biopsy is needed for accurate diagnosis.
research The structure of human trichohyalin : potential multiple roles as a functional ef-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin is a versatile protein involved in hair and skin structure.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research 865 Single-cell protein activity inference analysis of full-thickness skin uncovers novel pathways and a rare Arg1+ macrophage population in AA
Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
research Glycerophospholipid Analysis of Eastern Red Bat (Lasiurus Borealis) Hair by Electrospray Ionization Tandem Mass Spectrometry
Eastern Red Bat hair contains various glycerophospholipids, mainly phosphatidylcholine.
research Cutaneous polyarteritis nodosa presenting with digital gangrene and breast ulcer
A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research An immunohistochemical study of the apocrine type of cutaneous mixed tumors with special reference to their follicular and sebaceous differentiation
Apocrine type cutaneous mixed tumors often resemble hair follicles, sebaceous glands, and apocrine glands.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Follicular porokeratosis: four new cases
Four new cases confirmed the unique features of follicular porokeratosis.
research Unilateral nevoid hyperkeratosis of the nipple and areola in a Saudi female
Calcipotriol cream reduced skin thickening and itching in a rare nipple condition.
research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research Epidermolysis bullosa in calves in the United Kingdom
Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
research Abstract LB-039: Chronic inflammation-mediated contribution of bone marrow-derived epithelial cells and hair follicle stem cells to development of cutaneous neoplasms
Bone marrow and hair follicle cells help form skin tumors, suggesting new treatment targets.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Disseminated Nonsegmental Vitiligo Associated With Halo Nevi and Premature Gray Hair
A rare combination of halo nevi, nonsegmental vitiligo, and early gray hair can occur together.
research Characterization of hair follicles in Hirosaki hairless rats with deletion of basic hair keratin genes : enlarged medulla, loss of cuticle and long catagen
research Recognition of the ultrastructure of the hair follicle of Cashmere goats under the transmission electron microscope
Recognizing ultrastructures of cashmere goat hair follicles helps identify and locate follicle layers.
research Perifollicular Melanocyte Regeneration in Bullous Pemphigoid
Melanocytes can regenerate around hair follicles in bullous pemphigoid, especially in patients with darker skin.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research The hair shaft: normality, abnormality, and genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.