3 citations
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August 2017 in “Oral and Maxillofacial Surgery Cases” This study observed complete resolution of neuropathic pain symptoms in a patient after a fat grafting PRP procedure, suggesting it may be a less invasive treatment alternative.
1 citations
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February 2025 in “Journal of the Neurological Sciences” This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.
1 citations
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April 2022 in “Journal of The American Academy of Dermatology” This study found that decreased pressure sensitivity and 2-point discrimination at the scalp's vertex were significantly associated with androgenetic alopecia in men.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
1 citations
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September 2011 in “Journal of the American Geriatrics Society” This article presents a case of Werner syndrome complicated by idiopathic membranous nephropathy, suggesting a possible but unproven genetic link between the two conditions.
1 citations
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January 2016 in “Australasian Journal of Dermatology” This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.
4 citations
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December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
12 citations
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June 2016 in “Clinical and experimental dermatology” This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.
66 citations
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July 2007 in “Journal of Molecular Medicine” This study in mice demonstrated that stress or nerve growth factor injection increases sensory neuron activity related to skin innervation, suggesting a strong connection between stress perception and neurogenic skin inflammation.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
15 citations
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May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” In this case study, repetitive botulinum type A toxin injections led to almost complete resolution of severe chronic pain in a patient with Parry-Romberg syndrome.
12 citations
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January 1994 in “Dermatology” This study found that a patient with giant axonal degeneration had unique hair abnormalities such as trichorrhexis nodosa and altered S:N ratios, unlike her relatives but comparable to unrelated controls.
41 citations
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April 2009 in “Journal of comparative neurology” In this study, researchers observed that P2X3-immunoreactive fibers extensively innervate the epidermis of rats, suggesting a primary role in detecting noxious stimuli in cutaneous tissue.
201 citations
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November 1964 in “Journal of neurophysiology” The cuneate nucleus has two main neuron types: relay neurons and interneurons.
227 citations
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February 1989 in “The Journal of Comparative Neurology” This study found that calcitonin‐gene‐related peptide immunoreactive sensory axons in rats are predominantly involved in tissue maintenance rather than nociceptive functions.
36 citations
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September 2009 in “Molecular Neurobiology”
33 citations
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November 2012 in “JAMA Dermatology” In this study, 14 out of 15 women with scalp dysesthesia also had cervical spine disease, and gabapentin improved symptoms for some patients.
This case report concludes that the most likely diagnosis for the patient's symptoms is secondary syphilis with neurological involvement.
April 2017 in “Journal of Investigative Dermatology” This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.
January 2021 in “American journal of dermatological research and reviews” This study concluded that myositis in the reported case was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
May 2026 in “Journal on musculoskeletal ultrasound in pain medicine.” In this case study, a 29-year-old male experienced chronic pelvic pain and erectile dysfunction after finasteride use, with no effective relief from pharmacological and procedural interventions, prompting a shift towards pain education and behavioral strategies due to a possible nociplastic pain mechanism.
January 2025 in “Online Publication Service of Würzburg University (Würzburg University)” This study established a standardized in-vitro 3D skin model using adult diseased skin cells to investigate the underlying mechanisms of small fiber neuropathies, providing a foundation for further research into their pathophysiology.
28 citations
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January 2021 in “Parkinsonism & related disorders (Online)/Parkinsonism & related disorders” This article reviews skin disorders in Parkinson's disease, highlighting the potential of skin studies and stem cell research to advance understanding and treatment of the neurodegenerative disorder, without presenting new results.
February 2025 in “Indian Dermatology Online Journal” This case report describes a rare occurrence of pincer nail deformity in a patient with systemic lupus erythematosus, potentially linked to Raynaud's phenomena as a contributing factor.
This case report highlights the growing prevalence and treatability of neurosyphilis, stressing the need to consider it in neurological symptoms such as encephalopathy, facial nerve palsy, and gelastic seizures associated with the frontal lobe.
December 2011 in “Journal of the Turkish Academy of Dermatology” This case study describes a patient with myasthenia gravis associated with pityriasis rubra pilaris, suggesting a rare coexistence of these conditions.
27 citations
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June 2015 in “Journal of Investigative Dermatology” This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.