ArticleBMJ case reports2021
Painful, reappearing eruption in a medically complex 4-year-old.
Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors at 2 institutions in 1 country.
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Abstract
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.
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