TY - JOUR T1 - Painful, reappearing eruption in a medically complex 4-year-old JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2020-239310 VL - 14 IS - 2 SP - e239310 AU - Meredith Sooy AU - Rachel L Randell AU - Dmitry Tchapyjnikov AU - Klaus Werner AU - Kristina Nazareth-Pidgeon Y1 - 2021/02/01 UR - http://casereports.bmj.com/content/14/2/e239310.abstract N2 - A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with frequent episodes of a painful, markedly erythematous eruption associated with swelling. Evaluation revealed non-specific findings on skin biopsy at the time of eruption and no pathogenic mutation in the SCN9A gene. The patient was diagnosed with secondary erythromelalgia based on clinical presentation. Erythromelalgia is a rare disorder characterised by recurrent episodes of pain and erythema typically affecting the distal extremities. This case represents the first case of erythromelalgia in the setting of DiGeorge and CHARGE syndromes. ER -