AI Article Synopsis

  • Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous disorder linked to RAS gene mutations, affecting various organs including skin and the brain.
  • A case report details the autopsy of a Japanese boy with LNSS who faced serious complications like hydrocephalus and congenital heart issues, leading to his death at six months old.
  • Genetic testing revealed a KRAS G12D mutation in a skin sample but not in blood, indicating a postzygotic mutation, and autopsy findings uncovered new pathological issues such as intracranial lipomatous hamartoma.

Article Abstract

Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous syndrome associated with systemic complications that involve multiple organs, including the skin, central nervous system, eyes, and skeleton. LNSS is considered to be caused by mosaic RAS gene mutation. In this report, we present an autopsy case of LNSS in a Japanese boy. The affected neonate had hydrops fetalis and was born at 28 weeks and 4 days of gestation, weighing 2104 g. He had bilateral inverted eyelids, verrucous linear nevus separated along Blaschko's line, myocardial hypertrophy, and pharyngeal constriction, and underwent intensive treatment in NICU for arrhythmia, hydrocephalus, and respiratory distress. The hydrocephalus progressed gradually and he died at the age of 181 days, 12 days after a sudden cardiac arrest and recovery. KRAS G12D mutation was found in a skin biopsy specimen but not in blood cells, suggesting a postzygotic mosaicism. Autopsy revealed novel pathological findings related to LNSS, including intracranial lipomatous hamartoma and mesenteric lymphangioma, in addition to previously reported findings such as multicystic dysplastic kidney. There was the limited expression of mutated KRAS protein in kidneys.

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http://dx.doi.org/10.1111/pin.13463DOI Listing

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