October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
A man developed an eye nerve issue after hair surgery due to prolonged upright posture affecting brain fluid balance.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
5 citations
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February 2008 in “Histopathology” 1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
April 2026 in “Clinical Case Reports” A strict gluten-free diet can improve liver issues in celiac disease.
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December 2012 in “Critical Care Medicine” Recognizing myxedema coma is crucial due to its high risk and unusual symptoms.
September 2017 in “Dermatologic Surgery”
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
5 citations
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February 2011 in “Aesthetic Plastic Surgery” The new technique for repositioning lower eyelid fat with a midface lift is easier, faster, and has better results with fewer complications.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
2 citations
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January 2020 in “Yonsei Medical Journal” Dutasteride for hair loss might increase the risk of a rare stroke type.
8 citations
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August 2016 in “Annales de Dermatologie et de Vénéréologie” A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
2 citations
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August 2014 in “PubMed” Losartan may help treat Postural Orthostatic Tachycardia Syndrome (POTS) symptoms.
November 2022 in “Journal of the Endocrine Society” A woman with ectopic Cushing's syndrome and COVID-19 passed away despite treatment.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
June 2010 in “Institutional Repositories DataBase (IRDB)” Self-induced vomiting in anorexia can lead to rare gout complications.
3 citations
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January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
July 2022 in “International Medical Case Reports Journal” The 6-year-old Somalian girl fully recovered from her symptoms after successful surgery and treatment.
March 2024 in “Journal of Animal Reproduciton and Biotechnology” A rare fetal malformation caused difficult birth in a goat, requiring surgery.
1 citations
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November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
14 citations
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April 2020 in “Journal of the American Academy of Dermatology” Viral reactivation is rare at the time of DRESS diagnosis in the U.S.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.