3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
6 citations
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January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
August 2013 in “Fertility and Sterility” Hair loss is common in women with PCOS and is linked to symptoms like acne and excess hair but not to worse metabolic health.
January 2022 in “Dubai diabetes and endocrinology journal/Dubai diabetes & endocrinology journal” A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
December 2020 in “International journal of medical science and clinical invention” Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
19 citations
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April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
August 1978 in “Archives of Dermatology” A 31-year-old man has a chronic skin condition with red plaques, hair loss, and swollen lymph nodes.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
10 citations
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March 2016 in “The Journal of Obstetrics and Gynecology of India” The article suggests renaming Polycystic Ovarian Syndrome (PCOS) to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" (HA-PODS) for accuracy and consistency, but no final decision was made.
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.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
September 2024 in “Journal of the American Academy of Dermatology” The patient responded well to treatment with no disease progression.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
1 citations
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January 2023 in “BMC Women's Health” Polycystic Ovary Syndrome (PCOS) was found in 3.86% of tenth-grade girls in Guangzhou, China, with higher rates in overweight and obese girls, suggesting diagnosis should focus on hyperandrogenemia.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
12 citations
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January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
January 2023 in “Advances in reproductive sciences” Higher levels of the protein Pannexin-1 may play a role in hair loss in women with PCOS.
12 citations
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July 1979 in “International Journal of Dermatology” A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.