46 citations
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January 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
1 citations
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February 2024 in “Medicine” Eosinophilic cystitis is often misdiagnosed, but accurate diagnosis and treatment improve outcomes.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
April 2023 in “Authorea (Authorea)” A young woman with a rare skin cancer was diagnosed late because her symptoms were unusual for the disease.
82 citations
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May 2010 in “PLoS neglected tropical diseases” Secondary syphilis in Cali, Colombia, shows high Treponema pallidum presence and challenges in early diagnosis, needing better public health strategies.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A compromised gut may trigger the autoimmune hair loss condition Alopecia Areata.
5 citations
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June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.