33 citations
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
8 citations
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September 1981 in “Zentralblatt für Veterinärmedizin Reihe A” Biotin deficiency in pigs causes hair loss, skin issues, and weak claws.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
1 citations
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November 1988 in “Veterinary Record” Folic acid helped a calf regrow hair lost due to deficiency.
10 citations
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July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
Ribonucleotide excision repair is crucial to prevent skin cancer.
29 citations
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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.
5 citations
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July 2018 in “Pediatrics” A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
January 1991 in “Linchuang pifuke zazhi” 5 citations
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July 2007 in “PubMed” An HIV patient's complete hair loss was reversed after switching from lopinavir/ritonavir to nelfinavir.
3 citations
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January 2021 in “Therapeutic advances in infectious disease” A 9-year-old girl with a healthy immune system was successfully treated for a severe fungal scalp infection caused by Microsporum audouinii.
13 citations
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October 2000 in “International Journal of Dermatology” A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
January 2023 in “International journal of dermatology, venereology and leprosy sciences” Low levels of vitamin D and ferritin may increase the risk of female pattern hair loss.
13 citations
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January 2021 in “The American journal of gastroenterology” Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
September 2022 in “Journal of the American Academy of Dermatology” Patients with lichen planopilaris/frontal fibrosing alopecia have a higher rate of vitamin D deficiency than the general US population.
3 citations
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May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
January 2023 in “Cutaneous and Ocular Toxicology” 5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
March 2024 in “Clinical, cosmetic and investigational dermatology” Tofacitinib successfully treated vitiligo in a patient with lupus without side effects.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
52 citations
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August 1993 in “Clinical endocrinology” Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.
1 citations
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January 2014 in “Hair therapy & transplantation” The combination therapy of PEG-IFN α-2a and Ribavirin can cause widespread hair loss and skin reactions.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
January 2022 in “Menoufia Medical Journal /Menoufia Medical Journal” Higher levels of retinol-binding protein 4 are found in people with alopecia areata, but these levels don't relate to how severe the condition is.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
4 citations
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March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.