December 2007 in “Röntgenpraxis” This review discusses various treatments for androgenic alopecia, highlighting FDA-approved options and other commonly used therapies, but reports no new clinical results.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
13 citations
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January 1985 in “International Journal of Dermatology” This study compared trichostasis spinulosa with keratosis pilaris and eruptive vellus hair cysts, finding differences in lesion distribution and microscopic appearance.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
2 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where serial urodynamic studies revealed neurogenic bladder dysfunction linked to demyelinating lesions in the patient.
July 2023 in “Clinical, cosmetic and investigational dermatology” This case report described a 32-year-old woman with plica neuropathica who was diagnosed with schizophrenia after initially seeking dermatological care for her severely matted hair, illustrating a rare presentation of schizophrenia and the importance of considering psychiatric conditions in such cases.
October 2017 in “Anesthesia and Pain Medicine” This report observed that repeated stellate ganglion blocks over six years were associated with improved skin elasticity, increased water content, and more hair follicles on the treated side of a patient's face.
3 citations
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August 2020 in “Journal of The American Academy of Dermatology” This study observed that patients with scalp dysesthesia frequently exhibited cervical spine degenerative changes, which localized predominantly in the lower cervical spine, and reported modest symptom improvement with neuropathic pain medications and physical therapy.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
8 citations
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March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
8 citations
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July 2019 in “Journal of Molecular Neuroscience” This study found that Smad4 is crucial for satellite cell amplification during skeletal muscle regeneration, with aged cells exhibiting less Smad4 and reduced regenerative capability in mice.
16 citations
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March 2006 in “The American journal of psychiatry” This report describes five cases where sudden akathisia occurred in female patients with bipolar disorder after a ziprasidone dose reduction, emphasizing potential unexpected side effects of second-generation antipsychotics.
This study found that P144 (Disitertide) significantly reduced collagen deposition and improved muscle organization in a rabbit model of post-radiotherapy fibrosis, suggesting potential antifibrotic effects.
2 citations
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June 1987 in “British Journal of Dermatology” This study demonstrates that warming hands can restore normal blood flow in patients with systemic sclerosis, making their response to cooling similar to that of healthy controls.
33 citations
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June 2022 in “Materials Today Bio” This paper reviews recent advances in the design and use of injectable biomaterials for spinal degeneration treatment, highlighting the types of biomaterials like hydrogels and bone cements, and discussing key challenges and opportunities for clinical translation.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that nociplastic type pain is a complex and heritable trait, with significant genetic overlap with multisite chronic pain and some connection to rheumatoid arthritis and a neuropathic pain phenotype.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
January 2002 in “대한피부과학회지” This study analyzed clinical manifestations in 18 dermatomyositis patients, noting that all exhibited skin rash and variable symptoms like itching and muscle weakness, with treatment involving prednisolone and hydroxychloroquine.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
November 2025 in “Journal of Investigative Dermatology” Mesenchymal stiffness affects sweat gland cell development.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” This report presents a case of pili torti in a young girl with citrullinemia, a novel association not previously documented.
In this study, Smad4 deletion in satellite cells hindered skeletal muscle regeneration in adult mice and did not enhance regeneration in aged mice, indicating Smad4's crucial role in muscle repair.
39 citations
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January 2008 in “World Journal of Gastroenterology” This report documents the first known case of acute inflammatory demyelinating polyneuropathy potentially linked to pegylated interferon-alpha 2a in a woman undergoing treatment for chronic hepatitis C.
This report presents a rare case of lichen spinulosus in a 52-year-old woman, featuring hyperkeratotic follicular papules and a dense lymphohistiocytic infiltrate in affected skin areas.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
May 2025 in “The Journal of Rheumatology” This case report describes a 21-year-old woman whose catatonia led to the diagnosis of systemic lupus erythematosus, suggesting catatonia may be an underrecognized manifestation of neuropsychiatric lupus.
January 2023 in “Skin appendage disorders” This article describes two cases of plica neuropathica, a rare hair condition involving severe matting, and discusses possible contributing factors and diagnosis methods while reporting no new scientific results.
2 citations
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July 2019 in “Cosmetics” This study identified a unique concentric double-layered structure in both Japanese and Caucasian SHINAYAKA hair, associated with improved flexibility and elasticity, and developed a succinic acid treatment to enhance these properties.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.