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August 1998 in “Pain” Blocking GABA(A) receptors increases neuron sensitivity, showing GABA and glycine have different roles in pain.
The man had myotonia, which caused delayed hand grip relaxation.
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
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October 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical calcitriol-analogs can reduce hair loss caused by chemotherapy.
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
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April 1993 in “Gastroenterology” A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
December 2009 in “Pediatrics in review” A girl with Crohn's disease had a hairball causing bowel obstruction, which was removed, and she recovered well.
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
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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.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
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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.
January 2011 in “한국미생물·생명공학회지” Fermented extracts may help hair growth.
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May 2019 in “British Journal of Dermatology” People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
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January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
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September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
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September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
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April 2022 in “The Journal of Urology” Both penicillamine and tiopronin have significant side effects, but trying the alternative drug can be beneficial if the first is not tolerated.
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April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
January 2022 in “Clinical Cases in Dermatology” A condition called Central Centrifugal Cicatricial Alopecia causes hair loss and scalp burning in middle-aged African women, and it's treated with various medications, hair transplants, and non-drug methods like wigs.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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July 2020 in “Iberoamerican Journal of Medicine” Early diagnosis and treatment can reduce cicatricial alopecia in middle-aged individuals, especially females.
March 2023 in “Natural product sciences” Celtis choseniana may help treat hair loss by reducing androgen effects and boosting hair growth signals.
October 2016 in “Veterinary record case reports” A cat had a rare skin disorder with hair loss and scaling, linked to a suspected tumor.
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.