title: Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex.
abstract: We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.
authors.affiliation: Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
authors.forename: Anthony
authors.initials: A
authors.lastname: Vandersteen
authors.forename: Jess
authors.initials: J
authors.lastname: Turnbull
authors.forename: Wajanat
authors.initials: W
authors.lastname: Jan
authors.forename: John
authors.initials: J
authors.lastname: Simpson
authors.forename: Sebastian
authors.initials: S
authors.lastname: Lucas
authors.forename: David
authors.initials: D
authors.lastname: Anderson
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Lin
authors.forename: Constantine
authors.initials: C
authors.lastname: Stratakis
authors.forename: Gabriella
authors.initials: G
authors.lastname: Pichert
authors.forename: Ming
authors.initials: M
authors.lastname: Lim
mesh_terms: D000293:Adolescent; D056733:Carney Complex / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D003937:Diagnosis, Differential; D005819:Genetic Markers / Q000235:genetics; D006325:Heart Atria / Q000473:pathology; D006338:Heart Neoplasms / Q000235:genetics; D006801:Humans; D007911:Lentigo / Q000235:genetics*; D008297:Male; D009154:Mutation; D009232:Myxoma / Q000175:diagnosis / Q000235:genetics; D018239:Seminoma / Q000175:diagnosis; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000175:diagnosis; D013736:Testicular Neoplasms / Q000175:diagnosis
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D005819:Genetic Markers; C517834:PRKAR1A protein, human