research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
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540-570 / 1000+ resultsresearch The role of Glucosylceramides in Keratinocyte Differentiation and Epidermal Barrier Function
Glucosylceramides are essential for healthy skin and proper wound healing.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Clinical and Histologic Features of 64 Cases of Steatocystoma Multiplex
Steatocystoma multiplex is a skin condition starting around age 26, linked to hair follicles, and related to eruptive vellus hair cysts.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Three cDNA sequences of mouse type I keratins. Cellular localization of the mRNAs in normal and hyperproliferative tissues.
Different keratins have unique expression patterns in mouse skin cells.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Pigmented Rings With Central Clearing: A Dermoscopic Feature of Melasma
Pigmented rings with central clearing help diagnose melasma more accurately.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Perforating Folliculitis: A Transepidermal Elimination Disorder
A 62-year-old man with diabetes and kidney disease had itchy skin lesions diagnosed as perforating folliculitis, treated with medication and skin care.
research Clinical Case Notes. Malignant melanoma in eviscerated eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research eLife assessment: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
research LOSING SIGHT OF THE DIAGNOSIS: A CASE REPORT OF NEUROMYELITIS OPTICA SPECTRUM DISEASE AND SYSTEMIC LUPUS ERYTHEMATOSUS-NEUROAUTOIMMUNITY IN FOCUS, CORRELATION OR COINCIDENCE?
Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research An unusual eyelid swelling
A 47-year-old man's eyelid swelling didn't improve with basic treatments, so a biopsy was needed.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Malignant epithelial tumors: Part II. Therapy and prevention
The document concludes that individualized treatment for malignant epithelial tumors is necessary and more research on metastatic squamous cell carcinoma treatments is needed.
research The features of onychomatrimas on in vivo reflectance confocal microscopy
Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
research Induced Mammary Epithelial Cell-Derived Extracellular Vesicles Promote the Repair of Skin Trauma
Extracellular vesicles from mammary cells help heal skin wounds effectively.
research DP10 Scalp disease in dermatomyositis
Scalp disease in dermatomyositis causes significant symptoms and has unique features.
research Horn With Miliary Calcification in Squamous Cell Carcinoma
A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Solid basal cell epithelioma (BCE) possibly originates from the outer root sheath of the hair follicle.
Basal cell epithelioma likely starts from the hair follicle's outer root sheath.