18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
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.
6 citations
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March 2019 in “The American Journal of Dermatopathology” Amyloid deposits linked to a type of protein may cause a unique pattern of hair loss by disrupting hair growth cycles.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
36 citations
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November 2000 in “Journal of the American Academy of Dermatology” A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
11 citations
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December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
March 2023 in “The primary care companion for CNS disorders” Dengue fever can cause hair loss that may lead to serious psychological issues like Body Dysmorphic Disorder in young women.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
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.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
3 citations
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January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
5 citations
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August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
January 2019 in “SAGE Open Medical Case Reports” A scalp biopsy revealed systemic amyloidosis in a woman who initially seemed to have a common hair loss condition.
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.
April 2026 in “Journal of Cutaneous Pathology” Alopecia can be caused by multicentric reticulohistiocytosis.
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.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
1 citations
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January 2026 in “International Journal of Dermatology” Dupilumab can cause unexpected scalp issues, so early symptom recognition is important to avoid hair loss.
1 citations
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November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
July 2013 in “Indian Journal of Dentistry” A 46-year-old man showed symptoms of a rare condition usually seen in postmenopausal women, highlighting the need for dentist-dermatologist collaboration.
June 2025 in “International Medical Case Reports Journal” Timely diagnosis and treatment of complex autoimmune diseases like APS2 are crucial to prevent complications and improve life quality.