January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
7 citations,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
16 citations,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
16 citations,
March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
3 citations,
March 2005 in “Journal of the American Academy of Dermatology” The lotion and shampoo effectively treated scalp seborrheic dermatitis.
258 citations,
July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.