23 citations
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February 1979 in “Veterinary Clinics of North America: Small Animal Practice” Treatment can improve survival and symptoms in dogs with Cushing's disease, but outcomes are unpredictable.
April 2010 in “Cancer Research” Basal cell carcinomas may use IDO to protect themselves from the immune system.
5 citations
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April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
56 citations
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January 2004 in “Journal of the American Academy of Dermatology” Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
1 citations
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November 2024 in “Journal of the American Academy of Dermatology” People with celiac disease have a higher risk of developing alopecia areata.
January 2025 in “Indian Dermatology Online Journal” Hydroxychloroquine may cause nail discoloration in lupus patients.
3 citations
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March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
18 citations
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January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
April 2019 in “Journal of the Endocrine Society” A woman with Cushing's syndrome improved after surgery to remove an adrenal tumor.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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.
September 2022 in “Anais Brasileiros de Dermatologia” Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
29 citations
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September 1986 in “Journal of the American Veterinary Medical Association” The cat had a pituitary tumor causing hormone imbalance and related health issues.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
October 2015 in “The American Journal of Gastroenterology” Allopurinol may cause rare granulomatous microscopic colitis.
February 2024 in “Sučasna gastroenterologìâ” The patient was diagnosed with celiac disease after a long delay, showing the need for better awareness and earlier detection.
May 2025 in “The Journal of Rheumatology” A rare lupus case in Bangladesh improved with specific treatment.
4 citations
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May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
41 citations
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January 2000 in “Hormone Research in Paediatrics” Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
April 2020 in “Journal of the Endocrine Society” An 87-year-old man showed unusual signs of Hodgkin lymphoma, primarily high calcium levels, which improved after treatment and revealed the disease.