A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
1 citations
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August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The thyroid nodule was benign, and surgery was successful with a smooth recovery.
5 citations
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October 2018 in “Dermatologic therapy” Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
Improved nutrition quickly healed the patient's skin lesions.
October 2024 in “Journal of the Endocrine Society” ACTH-dependent Cushing's syndrome linked to metastatic cervical cancer is rare and has high risks.
June 2022 in “IP Indian journal of clinical and experimental dermatology” A woman had a rare, non-cancerous skin growth on her face, which was removed and did not come back after a year.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
March 2024 in “IP Indian journal of clinical and experimental dermatology” Giant solitary trichoepithelioma is a rare, usually non-cancerous hair follicle tumor that can sometimes turn into skin cancer.
September 2015 in “Türk Dermatoloji Dergisi”
April 2016 in “Plastic and reconstructive surgery. Global open” Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
May 2025 in “Oral Sciences Reports” A lip nodule from a filler injection was successfully removed with surgery.
4 citations
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November 2013 in “Journal of IMAB - Annual Proceeding (Scientific Papers)” A rare adrenal tumor in a 9-year-old girl was successfully treated with surgery.
21 citations
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January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
2 citations
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April 2021 in “Journal of Mind and Medical Sciences” A man thought to have appendicitis actually had a rare pancreas-related condition.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
26 citations
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April 2007 in “Journal of pediatric gastroenterology and nutrition” A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
March 2026 in “Journal of Investigative Dermatology” 3 citations
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April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
Kerion is a rare but serious scalp infection that needs proper treatment.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
2 citations
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August 2025 in “Reports — Medical Cases Images and Videos” A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.