research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
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150-180 / 1000+ results research Graham-Little Piccardi Lassueur Syndrome and review of the literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
research Loss of epidermal PLCg1 induced sebaceous gland hyperplasia and sparse hair
Removing PLCg1 from skin cells caused thicker oil glands and less hair in mice.
research Cell Type-specific Functions of the Lysosomal Protease Cathepsin L in the Heart
Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
research DataSheet1.zip
GPC1 is important for hair growth by helping blood vessels form around hair follicles.
research Lichen Planopilaris: Retrospective Study and Stepwise Therapeutic Approach
No treatment showed clear superiority for lichen planopilaris.
research Very-long-chain Acyl-CoA Synthetases
Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research 265 Loss of Langerhans cells in scar lesion of lichen planopilaris is caused by downregulation of integrin αvβ6 in the epidermal keratinocytes
Scarred skin in lichen planopilaris loses immune cells due to a decrease in a specific protein in skin cells.
research Heterogeneity of ornithine decarboxylase expression in 12-O-tetradecanoylphorbol-13-acetate-treated mouse skin and in epidermal tumors
ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
research 85 Primary cutaneous follicle center lymphoma spans yet unrecognised subtypes including polyclonal reactions
PCFCL may have unrecognized subtypes and needs more research.
research METTL1-mediated m7G tRNA modification drives papillary thyroid cancer progression and metastasis by regulating the codon-specific translation of TNF-α
Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Drugs targeting epithelial–mesenchymal transition molecules for treatment of lichen planopilaris
Drugs targeting EMT molecules show promise for treating lichen planopilaris.
research Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma
Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Lysine Carboxymethyl Cysteinate (LCC) Protects the Epidermis from UVB-Induced Barrier Damage Through the Activation of Autophagy
Lysine carboxymethyl cysteinate (LCC) protects skin from UVB damage by activating autophagy.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Effectiveness of low-level laser therapy in lichen planopilaris
Low-level laser therapy may reduce symptoms and increase hair thickness in lichen planopilaris patients.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Lichen planus pigmentosus: a clinico‐pathological study in a Caucasian population from North Africa
Lichen planus pigmentosus mainly affects middle-aged women with darker skin, is underreported, and is hard to treat.
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
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 Coexistence of Lichen Planus Pigmentosus and Classic Lichen Planopilaris: A Case Report and Literature Review
A rare case of a woman having both lichen planus pigmentosus and classic lichen planopilaris at the same time.