9 citations
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January 2007 in “Gynecological Endocrinology” A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
June 2021 in “Zenodo (CERN European Organization for Nuclear Research)” Acanthosis nigricans is common in obese individuals, but not significantly linked to obesity type.
1 citations
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
77 citations
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January 1989 in “Clinical Infectious Diseases” Toxic Shock Syndrome progresses quickly, often involves multiple organs, and is linked to Staphylococcus aureus toxins, with treatment options available but diagnostic challenges remaining.
February 2026 in “Journal of Chittagong Medical College Teachers Association” BIMA grafting can be safely done in females with careful preparation.
3 citations
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January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences” A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
March 2025 in “Laboratory Investigation” Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
January 2026 in “Indian Journal of Paediatric Dermatology” A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
7 citations
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October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
January 2017 in “Journal of clinical & experimental dermatology research” The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
1 citations
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May 2018 in “Emergency Nurse” Educating healthcare workers and parents about hair toe tourniquets can help prevent serious complications.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
June 2025 in “Revista Brasileira de Fisioterapia Pelvica” The Broad Ligament Maneuver effectively relieved PCOS symptoms and restored ovarian function.
2 citations
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July 2022 in “Cureus” Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
2 citations
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July 2015 in “Case Reports in Dermatology” DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
April 2019 in “Journal of the Endocrine Society” A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
August 2025 in “Cermin Dunia Kedokteran” Low blood albumin often signals disease-related stress, not poor nutrition, and requires treating the cause and possibly supplementing albumin.
Early recognition and a multidisciplinary approach are crucial for effectively managing complex autoimmune conditions like SLE with CAPS and AHA.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
1 citations
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February 2014 in “Hair therapy & transplantation” A baby boy had two types of temporary hair loss at birth, which might be two forms of newborn hair loss combined.
10 citations
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May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
1 citations
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March 1990 in “Archives of Dermatology” The letter suggests that psychiatric issues, not a sleep disorder, were likely the cause of a patient's self-inflicted leg ulcers.
3 citations
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January 2022 in “JAAD Case Reports” Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.