January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
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.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.