医学
努南综合征
错义突变
PTPN11型
皮肤病科
基因
内科学
克拉斯
癌症
突变
遗传学
结直肠癌
生物
作者
Olivia Kuo,Kevin Molloy,Ataf Sabir,Andrew J. Fleming,Matthew Edwards,Deborah J. Morris‐Rosendahl,Hiva Fassihi,Philip Preston
摘要
Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant condition arising from gene variants involved in the RAS-MAPK pathway. The presence of multiple skin cancers is not widely reported in NSML. We report on a novel missense variant causing NSML in a patient with an unusual distribution of lentigines and multiple skin cancers. An increased awareness of the potential for malignant change of lentigines in NSML may encourage regular skin surveillance as a mainstay of multidisciplinary management, enabling early diagnosis and management of skin cancers in this group of patients.
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