8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
11 citations
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July 2014 in “Clinical Rheumatology” Cyclophosphamide often causes gastrointestinal issues, hair loss, and low blood cell counts in Chinese patients with autoimmune diseases.
1 citations
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January 1999 in “Dermatology” September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
59 citations
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January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
April 2021 in “The journal of heart and lung transplantation/The Journal of heart and lung transplantation” Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
11 citations
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October 2003 in “Postgraduate Medical Journal” Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
Hyperthyroidism mostly affects young women and can cause heart issues, but these can improve with treatment.
1 citations
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January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
9 citations
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January 2015 in “Medical hypotheses” TCDD disrupts skin stem cells, causing skin issues like chloracne.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
157 citations
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September 2012 in “Journal of the American Academy of Dermatology” Young patients are more likely to develop autoimmune diseases, while elderly patients are more prone to organ failure after DRESS.
6 citations
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July 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
11 citations
,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
32 citations
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October 2005 in “PubMed” Scurvy, caused by lack of vitamin C, can be mistaken for other conditions but improves with vitamin C supplements.
20 citations
,
July 1998 in “Annals of Clinical Biochemistry International Journal of Laboratory Medicine” A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
10 citations
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October 2010 in “Hepatology” Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
4 citations
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November 2021 in “Journal of the European Academy of Dermatology and Venereology” There might be a skin condition related to COVID-19.