1 citations
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January 2013 in “The Journal of Dermatology” A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
1 citations
,
March 2018 in “BMJ case reports” This case report describes a 30-year-old bisexual African man with neurological symptoms, generalized wasting, and ophthalmological findings, but reports no new clinical research results.
21 citations
,
April 1990 in “Journal of comparative neurology” This study found that the spinal projection of afferents innervating slowly adapting mechanoreceptors had a greater rostrocaudal extent and number of boutons compared to those innervating rapidly adapting mechanoreceptors.
1 citations
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January 2015 in “Acta Dermato Venereologica” Autoimmune myopathy may be linked to hair loss and skin depigmentation.
54 citations
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January 1986 in “Medical clinics of North America/The Medical clinics of North America” This study reviewed pathology reports of patients with multiple myeloma and found that skin biopsies commonly show graft-versus-host disease, drug-related lesions, and Sweet's syndrome, especially related to transplantation timing.
1 citations
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August 2010 in “Optometry and Vision Science” This case study suggests a potential common inflammatory cause between insidious optic neuropathy and alopecia areata in a 4-year-old boy.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
13 citations
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October 2016 in “Journal of Clinical Neuroscience” In this case study, divisional thallium intoxication in an adolescent led to progressive optic and peripheral neuropathy, with neurological deterioration occurring more rapidly after a second ingestion.
30 citations
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January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
January 2023 in “Brazilian Journals Editora eBooks” Surgery to fix a broken upper arm bone can sometimes lead to nerve damage.
1 citations
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May 2025 in “The Journal of Rheumatology” This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.
January 2022 in “Function” This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.
3 citations
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March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
September 2022 in “JAAD case reports” 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 study describes a 31-year-old man with myotonia and a history of hypertrophic cardiomyopathy and androgenic alopecia, who presented with arm and leg weakness.
4 citations
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March 2009 in “Journal of pain and symptom management” In this case study, researchers observed that gabapentin may cause alopecia, as a patient developed significant hair loss shortly after starting the medication for neuropathic pain, which reversed upon discontinuation.
June 2025 in “Neurology India” This case report describes a young girl with a rare association of anti-SRP positive necrotizing autoimmune myopathy and systemic lupus erythematosus, who responded well to corticosteroid treatment.
3 citations
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October 2001 in “British Journal of Ophthalmology” In this case, intralesional cidofovir showed a successful outcome for treating SCC without systemic toxicity, suggesting it may be worth considering alongside surgical excision.
14 citations
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August 2006 in “Clinical and Experimental Dermatology” This case report describes a unique instance of plica neuropathica in a 14-year-old girl linked to chronic illness and acute infection, leading to complete hair loss.
109 citations
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April 1997 in “Archives of Dermatological Research” The researchers reported that mast cell and nerve fiber interactions in mouse skin are highly selective for nerve fiber types and vary depending on the hair cycle phase.
10 citations
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July 2001 in “PubMed” This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.
13 citations
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January 2020 in “Annals of Oncology” Cryotherapy and compression therapy might help prevent chemotherapy nerve damage, but more research is needed.
4 citations
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January 2023 in “Clinics” This commentary reports the first case of small fiber neuropathy, mast cell activation syndrome, and pericarditis following mRNA-based SARS-CoV-2 vaccination in a previously healthy 66-year-old woman.
5 citations
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January 2012 in “PubMed” This study observed that anti-multiple nuclear dots antibodies, typically markers for primary biliary cirrhosis, were also present in patients with various autoimmune and connective tissue diseases, without correlating to disease activity or specific skin features.
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.
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.