19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
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.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
2 citations
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January 1997 in “Leprosy Review” A neglected leprosy treatment led to rare scalp hair loss in an Indian woman, which improved with proper medication.
June 2020 in “Jurnal Penyakit Dalam Indonesia” Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
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.
3 citations
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January 2016 in “Dermatology online journal” Some people with lichen planus pigmentosus might later develop frontal fibrosing alopecia.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
December 2023 in “Journal of General Procedural Dermatology and Venereology Indonesia” A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
2 citations
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November 2023 in “Skin Appendage Disorders” Lipedematous scalp may have a genetic link and could be associated with psychiatric conditions.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
5 citations
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September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
May 2024 in “JAAD Case Reports” A young man was diagnosed with a rare hair loss condition usually seen in older women.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
6 citations
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April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
5 citations
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September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
September 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Hair changes could indicate neurological diseases and help monitor treatment.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
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.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.