ABSTRACT
Extrarenal rhabdoid tumor is a rare malignancy of infants and children, typically presenting in the soft tissue of deep, axial locations. We describe a rare dermal presentation of congenital extrarenal rhabdoid tumor in the left paraspinal region of a 6-month-old girl with germline deletion of chromosome 22q11.21q11.23. This case demonstrates that like other rhabdoid tumors, the SMARCB1 gene is also responsible for cutaneous extrarenal rhabdoid tumor oncogenesis.
Subject(s)
Chromosomal Proteins, Non-Histone/physiology , DNA-Binding Proteins/physiology , DiGeorge Syndrome/physiopathology , Rhabdoid Tumor/congenital , Rhabdoid Tumor/physiopathology , Skin Neoplasms/congenital , Skin Neoplasms/physiopathology , Transcription Factors/physiology , Biopsy , Chromosomal Proteins, Non-Histone/genetics , Chromosomes, Human, Pair 22/genetics , Combined Modality Therapy , Comorbidity , DNA-Binding Proteins/genetics , DiGeorge Syndrome/epidemiology , Drug Therapy , Female , Germ-Line Mutation/genetics , Humans , Infant , Radiotherapy , Rhabdoid Tumor/epidemiology , SMARCB1 Protein , Skin/pathology , Skin Neoplasms/epidemiology , Transcription Factors/genetics , Treatment OutcomeABSTRACT
A 50-year-old woman underwent facial massage. After 13 days, she experienced left retro-orbital pain, ptosis, and miosis. Magnetic resonance imaging (MRI) showed stenotic dissection of bilateral cervical internal carotid and vertebral arteries. The intracranial vasculature was intact. She was treated conservatively with long-term oral anticoagulation and remains asymptomatic 18 months later.