May 2024 in “International journal of medicine and psychology.” Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
1 citations
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
22 citations
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March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
July 2025 in “Health Sciences” A 7-year-old girl with non-scarring alopecia will have hair follicle transplantation to improve her quality of life.
5 citations
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September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
1 citations
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November 2003 in “SKINmed Dermatology for the Clinician” A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Male-pattern baldness has a weak link to heart disease and some related health conditions.
May 2024 in “JAAD Case Reports” A young man was diagnosed with a rare hair loss condition usually seen in older women.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
30 citations
,
August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
3 citations
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January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
1 citations
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October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.