3 citations
,
April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
April 2007 in “CRC Press eBooks” Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
September 2024 in “Journal of the American Academy of Dermatology” The patient responded well to treatment with no disease progression.
84 citations
,
August 1991 in “British Journal of Dermatology” Most children treated with diphencyprone regrew some or all of their hair.
September 2024 in “Cermin Dunia Kedokteran” Fahr syndrome causes brain calcification and is managed by treating symptoms and underlying issues.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
5 citations
,
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.
26 citations
,
September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
June 2025 in “Scholars Journal of Medical Case Reports” Early minipulse corticosteroid therapy can effectively treat scalp discoid lupus in children.
59 citations
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November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
33 citations
,
August 2013 in “Current Opinion in Ophthalmology” Frontalis suspension surgery using autologous fascia lata is effective for treating unilateral congenital ptosis with poor levator function.
21 citations
,
March 2021 in “Frontiers in Neurology” The posterior cerebellum helps maintain balance by adapting to sensory inputs and self-motion.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
8 citations
,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A small BOTOX dose improved sperm production and movement in older mice.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
2 citations
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January 2007 in “Actas Dermo-Sifiliográficas” Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
49 citations
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January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
81 citations
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July 2012 in “Translational Psychiatry” Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
12 citations
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November 2014 in “Journal of Cutaneous Medicine and Surgery” Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
November 2024 in “Communities in ADDI (University of the Basque Country)”