13 citations
,
December 2010 in “Annales de Dermatologie et de Vénéréologie” The conclusion is that skin, mucous, and eye problems after Stevens-Johnson syndrome and Lyell syndrome significantly affect patients' lives, highlighting the need for comprehensive care and eye check-ups.
January 2023 in “Brazilian Journals Editora eBooks” 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.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
232 citations
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July 1995 in “Nature Genetics” 1 citations
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July 2021 in “Clinical Cosmetic and Investigational Dermatology” Syphilis should be considered if PLEVA-like symptoms don't improve with treatment.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
37 citations
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March 2005 in “Journal of Paediatrics and Child Health” A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
21 citations
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August 2002 in “British Journal of Ophthalmology”
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
21 citations
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August 2002 in “British Journal of Ophthalmology” Drug misuse can cause serious eye infections and other severe side effects.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
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.
November 2022 in “Journal of the Endocrine Society” A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
1 citations
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November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
October 2022 in “Pakistan Journal of Medicine and Dentistry” Skin conditions can indicate underlying metabolic issues.
26 citations
,
September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
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.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.