7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
21 citations
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April 2000 in “Journal of Cutaneous Pathology” The hamartoma is an abnormal hair growth with limited development in the upper hair follicle.
August 2021 in “Annals of pathology and laboratory medicine” Most skin tumors in the study were benign, with squamous cell carcinoma being the most common malignant type.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
November 2025 in “Cancer Management and Research” Targeting Keratin 17 may help overcome cancer therapy resistance.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
December 2009 in “Pediatrics in review” A girl with Crohn's disease had a hairball causing bowel obstruction, which was removed, and she recovered well.
September 2024 in “Journal of the American Academy of Dermatology” 1 citations
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July 2016 in “Dermatologic surgery”
March 2014 in “Journal of The American Academy of Dermatology” Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
3 citations
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December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
4 citations
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February 2018 in “Annales de Dermatologie et de Vénéréologie” Onychomatricome is a benign nail tumor with specific dermoscopic features that help distinguish it from cancer.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
2 citations
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November 2023 in “Skin Research and Technology” RCM and dermoscopy help identify different types of hair loss in children.
6 citations
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April 2012 in “Journal of Oral Pathology and Medicine” Rushton's hyaline bodies form from hair keratin and blood substances.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
2 citations
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July 2017 in “Oman medical journal” A man with a rare adrenal cancer showed unusual symptoms and died four months after diagnosis.
4 citations
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October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
54 citations
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May 1999 in “Journal of Cutaneous Pathology” Apocrine type cutaneous mixed tumors often resemble hair follicles, sebaceous glands, and apocrine glands.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
50 citations
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January 2016 in “The FEBS journal” RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
33 citations
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May 2018 in “Stem Cell Reports” Krt15+ cells in the mouse intestine resist radiation and can start tumors.
8 citations
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January 2019 in “Acta dermato-venereologica” Some children with localized scleroderma are rarely resistant to methotrexate, and no common profile for resistance was found.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
4 citations
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July 2022 in “Veterinary medicine international” Mange in rabbits is a serious disease that can spread to humans and is treated with medications and supportive care.
188 citations
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October 2014 in “Thyroid” Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.