18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
7 citations
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September 2013 in “Tissue engineering. Part A” Hair follicle stem cells can become motor neurons and reduce muscle loss after nerve injury.
December 2023 in “Journal of Cutaneous Immunology and Allergy” A man developed myasthenia gravis after alopecia areata, and treatment improved his symptoms and stopped hair loss.
4 citations
,
April 2017 in “F1000Research” Mitochondrial problems in diabetic nerve damage might cause pain by lowering the production of certain nerve-related steroids.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
28 citations
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September 2002 in “The Journal of Comparative Neurology” Presynaptic inhibition of certain nerve fibers in cats is mainly controlled by GABA and glycine.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
4 citations
,
November 1999 in “PubMed” Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
Trichotillomania treatment is improving with behavior therapy and new drug approaches, but challenges like stigma and underdiagnosis remain.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
1 citations
,
November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
January 2023 in “Skin appendage disorders” Two Hispanic women developed Plica neuropathica, a condition causing tangled hair, possibly due to hair damage and various risk factors.
June 2025 in “Frontiers in Immunology” Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
34 citations
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July 2006 in “The Journal of Comparative Neurology” Increasing neurotrophin 4 in skin boosts nerve endings but not sensory neuron count.
29 citations
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July 2008 in “British Journal of Dermatology” The patient had paraneoplastic pemphigus without mucosal involvement.
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
2 citations
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January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
2 citations
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
14 citations
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August 2006 in “Clinical and Experimental Dermatology” A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
3 citations
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March 2002 in “Linchuang pifuke zazhi” Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
54 citations
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November 1986 in “Journal of the American Academy of Dermatology” Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
1 citations
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March 2018 in “F1000Research” Diabetic neuropathy in mice is linked to poor mitochondria function and lower brain hormone production.
April 2023 in “IntechOpen eBooks” Neuropathic pruritus is a commonly overlooked and wrongly diagnosed type of chronic itching that is hard to treat.