Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
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October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
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July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
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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.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
July 2022 in “medRxiv (Cold Spring Harbor Laboratory)” Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
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January 2014 in “Indian journal of dermatology, venereology, and leprology” Papular mucinosis can cause eyebrow hair loss, but treatment can lead to regrowth.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
May 2025 in “The Journal of Rheumatology” Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
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April 2003 in “Clinical neurology and neurosurgery” Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
January 2024 in “Wiadomości Lekarskie” AI and robotics are improving treatment and monitoring of neurodegenerative disorders like Parkinson's.
June 2025 in “British Journal of Dermatology” MS treatments can cause significant hair loss, affecting mental health.
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
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August 2011 in “Medical Hypotheses” Physical inactivity is a primary cause of many human illnesses.
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September 2021 in “Dermatologic Therapy” Botulinum toxin injections effectively relieve pain from cutaneous leiomyomas.
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March 2013 in “Journal of Cutaneous Pathology” The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.
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April 1969 in “Archives of Dermatology” Skin biopsy is crucial for diagnosing unknown baldness causes.
April 2023 in “Journal of Investigative Dermatology” Psoriasis patients did not show more brain atrophy or small vessel disease than controls, but longer psoriasis duration was linked to more brain atrophy.
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
December 2022 in “Laboratory Animal Research” Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
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December 2010 in “Dermatologic surgery” Botulinum toxin type A injections are not effective for severe alopecia areata.