9 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
19 citations
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May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
January 2025 in “The Pediatric Infectious Disease Journal” Syphilis can cause unusual symptoms like hair loss and joint pain, but treatment is effective.
October 2023 in “BMC endocrine disorders” A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
55 citations
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August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
April 2025 in “Egyptian journal of Immunology” Calprotectin levels are higher in alopecia areata patients, indicating systemic inflammation.
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.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
April 2017 in “Childhood Kidney Diseases” Azathioprine can cause severe blood issues and hair loss, needing careful monitoring and possible discontinuation.
6 citations
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January 2005 Selenosis in calves causes health issues and changes in blood parameters.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
January 2000 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman had hair loss and scalp nodules due to black piedra, confirmed by tests.
5 citations
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August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
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.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
12 citations
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September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
2 citations
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August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
15 citations
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January 2009 in “Indian journal of dermatology, venereology, and leprology” Scalp white piedra can be treated with oral itraconazole and topical ketoconazole.
November 2024 in “Karnataka Pediatric Journal” Chikungunya can cause hyperpigmentation in children and should be considered in diagnosis.
The woman's skin and health issues were due to a severe zinc deficiency.
May 1999 in “Medicine & Science in Sports & Exercise” The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
1 citations
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January 2024 in “BMJ Case Reports” A woman had meningitis caused by mixed connective tissue disease, not an infection.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
3 citations
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March 1932 in “Journal of the American Medical Association” Radium exposure causes severe health issues, so strict safety measures are essential.
April 2023 in “Journal of Investigative Dermatology” CGRP MAbs treatment for migraines may also improve rosacea symptoms, but more research is needed to confirm its effectiveness and safety.
8 citations
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November 2010 in “British journal of dermatology/British journal of dermatology, Supplement” Vitamin D protects skin cells from damage caused by captopril.