27 citations
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July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
November 2010 in “International Journal of Developmental Neuroscience”
134 citations
,
January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
5 citations
,
July 2020 in “Journal of Cosmetic Dermatology” A vibrating anesthetic device significantly reduces pain during mesotherapy for hair loss without complications.
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February 2025 in “Cermin Dunia Kedokteran” ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
3 citations
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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.
140 citations
,
February 2014 in “Neuron” Delta opioid receptors help regulate touch sensation by reducing neurotransmitter release in the spinal cord.
January 2024 in “Wiadomości Lekarskie” Patients with limited English prefer professional language interpretation in otolaryngology clinics.
5 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
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.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
46 citations
,
July 2007 in “Journal of comparative neurology” Manatee whiskers are specially adapted for touch in water.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
2 citations
,
October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” AIRE deficiency causes hair loss similar to alopecia areata in mice.
112 citations
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July 2008 in “Dermatologic Therapy” Folliculitis decalvans is a rare scalp condition causing scarring hair loss, treated with long-term antibiotics and other medications, but it often comes back and is hard to manage.
December 2023 in “Journal of dermatology” The study concluded that key signs of Keratosis follicularis spinulosa decalvans are changes in terminal hair and vellus hair follicles, which likely start the inflammation and damage to hair follicles.
2 citations
,
August 2002 in “British Journal of Ophthalmology” Tangent screens help detect visual field defects from vigabatrin.
1 citations
,
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.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.