December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
7 citations
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May 2012 in “Journal of veterinary diagnostic investigation” Some young Angus cattle had skin problems due to not enough vitamin A, which got better after they were given more vitamin A.
73 citations
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January 2004 in “Journal of the American Academy of Dermatology” Immunocompromised patients can develop skin and hair issues due to a virus.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
3 citations
,
September 1999 in “Journal of the European Academy of Dermatology and Venereology” People with Behçet's disease can develop life-threatening lung artery aneurysms that may require surgery.
9 citations
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November 2000 in “Journal of the American Academy of Dermatology” A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
2 citations
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December 2019 in “Cureus” A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
33 citations
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January 2018 in “Blood” Ruxolitinib helps protect skin stem cells and keeps skin healthy in mice with skin GVHD.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
1 citations
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September 2022 in “F1000Research” Digital gangrene can be an initial symptom of late-onset systemic lupus erythematosus.
2 citations
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January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
January 2025 in “Journal of Skin and Stem Cell” Gout can cause hair loss, but treatment can lead to hair regrowth.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
April 2025 in “Cermin Dunia Kedokteran” Graves' disease is a common cause of hyperthyroidism, mainly in women, treated with medication, iodine, or surgery, with varying outcomes.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
12 citations
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January 1998 in “Clinical Infectious Diseases” A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
10 citations
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June 2019 in “Transplant infectious disease” The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.
4 citations
,
January 2009 in “Indian Journal of Dermatology, Venereology and Leprology” A patient with granuloma annulare experienced both isotopic and isomorphic responses, with skin lesions responding to steroids but relapsing after stopping treatment.
41 citations
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December 2008 in “Journal of the American Academy of Dermatology” Oral valganciclovir improved a patient's skin condition caused by immunosuppression.
January 2011 in “Journal of The American Academy of Dermatology” Treating generalized granuloma annulare is difficult, with PUVA being the most effective option, but relapses are common.
Vismodegib effectively treats advanced basal cell carcinoma but requires careful management of serious side effects.
Individualized treatments may help manage Dercum's disease symptoms.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.