63 citations
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January 1971 in “Acta Medica Scandinavica” Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.
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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.
2 citations
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April 2021 in “The Egyptian Journal of Histology” Platelet-rich plasma helps protect and improve ovarian function in rats treated with cyclophosphamide.
3 citations
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March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
November 2025 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is effective long-term for treating alopecia areata in teens.
17 citations
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
May 2017 in “Journal of the American Academy of Dermatology” Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
May 2024 in “International journal of medicine and psychology.” Transcranial electrical stimulation with bisphosphonates helps maintain bone collagen better than bisphosphonates alone.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
November 2012 in “Annales de Dermatologie et de Vénéréologie” Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
37 citations
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September 2008 in “Plant Signaling & Behavior” OsPHR2 gene in rice enhances root growth and phosphorus accumulation.
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
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May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
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April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
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November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
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January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
October 2023 in “BMC endocrine disorders” A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
November 2024 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib effectively promotes hair regrowth in severe and very severe alopecia areata.
March 2019 in “Nasza Dermatologia Online” A rare scalp condition with hair loss was correctly diagnosed and treated, leading to hair regrowth.
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
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July 2018 in “Our Dermatology Online” Calcipotriol cream reduced skin thickening and itching in a rare nipple condition.
September 2023 in “Dermatology and therapy” Ritlecitinib effectively improves hair growth in alopecia areata patients, regardless of hair loss pattern.