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Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

This case report describes a 26-year-old woman with a giant cell tumor in the left proximal fibula, presenting atypically alongside pseudopseudohypoparathyroidism features, which remain rare in such contexts.

This review discusses lysophosphatidic acid's role in neuropathic pain and cholestatic itch, highlighting its complex signaling pathways, but reports no new clinical results.

In this study, researchers found that hepatitis C virus infection is a significant risk factor for sporadic porphyria cutanea tarda, suggesting familial cases might be more prevalent in areas with low hepatitis C infection rates.

In this case study, a rare viral infection called trichodysplasia spinulosa was diagnosed in a 10-year-old girl post-kidney transplant; she was treated successfully with reduced immunosuppression alongside leflunomide and valganciclovir, though the efficacy of valganciclovir remains uncertain.

This source provides an overview of diagnostic and treatment innovations for gastrointestinal disorders, such as wireless capsule technology for motility assessment and new methods for treating constipation and nausea, highlighting both current and emerging techniques.

This case report describes two women experiencing hormonally associated vestibulodynia and female arousal disorder, potentially linked to the use of spironolactone for androgen-mediated cutaneous disorders.

This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.

In this study, researchers identified the PLD-mGluR protein in primary mechanosensory terminals as the homomeric GluK2 kainate receptor, functioning purely metabotropically, which is suggested to be common to various sensory endings.

The interdisciplinary approach improved the quality of life for a Parkinson's patient and eased staff workload.

This study investigated the dynamic mechanical properties of fluid-immersed elastic hair beds under oscillatory shear flows, revealing a nonlinear response influenced by driving frequency and amplitude, which impacts mechanosensory signaling stability in biological processes like vasodilation and ciliary remodeling.

In this study, patients with generalized pustular psoriasis were classified into subgroups to better understand the disease's variability and assist in treatment selection, highlighting the role of localized infections in triggering flares.

This study found that spironolactone improved cognitive performance in patients with bipolar disorder experiencing manic episodes, but did not significantly affect manic symptoms, recommending further research with larger sample sizes and longer follow-ups.

In this study, UVB irradiation increased mast cell degranulation only when skin was innervated, suggesting that the interaction between mast cells and nerve fibres may exacerbate solar elastosis by promoting dysfunctional dermal elastic fiber accumulation, but further research is needed for confirmation.

Platelet-rich plasma shows promise in reducing pain for bladder pain syndrome.

Finasteride may help reduce tic severity in male Tourette syndrome patients.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This study reports that in systemic sclerosis, CD34+ dermal fibroblasts transition to CD34−, podoplanin+, and CD90+ fibroblasts across the dermis, suggesting a role in unchecked fibrosis.

This report discusses two patients with plaque psoriasis who developed hypertrichosis, or excessive hair growth, while undergoing interleukin-17A inhibitor therapy.

This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.

This case report examines a patient with myasthenia gravis, invasive thymoma, and paraneoplastic pemphigus associated with alopecia areata, notably without the usual mucosal involvement.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This case series reports favorable outcomes for children with Parry Romberg Syndrome who underwent facial fat-grafting, showing it as a safe and well-tolerated procedure with no complications or relapses observed.

This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.

This case report from the University of Alabama, Birmingham describes a rare paradoxical reaction of increased agitation and hyperactivity in a patient with schizoaffective disorder treated with divalproex sodium.

This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.

This report describes a case of a 5-year-old boy with acute somnolence, alopecia, keratoconjunctivitis, and perioral stomatitis linked to lactic acidaemia.

This case report details a 66-year-old male patient who developed eosinophilic pleuro-pericardial effusion likely due to valproic acid toxicity or overdosage, with full recovery observed after medication adjustments at a six-month follow-up.