April 2020 in “Journal of the Endocrine Society” Male pattern baldness may indicate arterial stiffness in transgender men on long-term testosterone therapy.
July 1974 in “Archives of dermatology” The woman's widespread skin condition did not improve despite various treatments.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
April 2021 in “The journal of heart and lung transplantation/The Journal of heart and lung transplantation” Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
5 citations
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March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
72 citations
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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.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
16 citations
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June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
May 1999 in “Medicine & Science in Sports & Exercise” The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
April 2024 in “Anais Brasileiros de Dermatologia”
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
May 2009 in “South African Family Practice” The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
3 citations
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November 2015 in “International Journal of Dermatology” Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
8 citations
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December 2015 in “JAMA ophthalmology” A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
February 2024 in “Pediatrics in review” A 15-year-old girl with missed periods was diagnosed with a pituitary disorder and treated with hormones and steroids.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
November 2022 in “Journal of the Endocrine Society” An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.