August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
January 2000 in “Neuroscience Research”
1 citations
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June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
5 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
2 citations
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July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
October 2019 in “European heart journal” Androgen-deprivation therapies increase the risk of certain heart conditions, but testosterone treatment may help.
3 citations
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January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
CRPS I is complex, linked to immune and nerve issues, and needs comprehensive treatment.
1 citations
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August 2022 in “Journal of Dermatology and Dermatologic Surgery” A patient developed nerve problems as a side effect of a hair loss treatment called tofacitinib.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
October 2024 in “Journal of the Endocrine Society” Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
1 citations
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October 2019 in “Epileptic disorders” A girl with Pitt-Hopkins syndrome developed curly hair as a rare side effect from the epilepsy drug perampanel.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
6 citations
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May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
198 citations
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May 2021 in “Advanced Materials” Triboelectric nanogenerators can use body movement to power therapeutic treatments, potentially transforming personalized healthcare.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
October 2025 in “Journal of the Endocrine Society” Hormonal imbalances can cause heart rhythm issues, so checking hormone levels is crucial.
A KRT32 gene variant causes loose anagen hair syndrome.
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
6 citations
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February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
2 citations
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July 2005 in “Baylor University Medical Center Proceedings” A 4-year-old girl was diagnosed with trichotillomania, a condition where she pulls out her hair, which may resolve on its own or require therapy.