October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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June 2022 in “Life” A 14-year-old boy is the youngest person reported with a rare, benign tumor related to hair follicles, usually found in older people.
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August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
67 citations
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May 2019 in “British Journal of Dermatology” People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
October 2021 in “Revista Medicina Cutánea Ibero-Latino-Americana” PRIDE syndrome helps identify skin side effects from EGFR inhibitors like erlotinib.
Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.