Maxillary sinus melanoma as the presenting feature of Carney complex.
We present a case of a large maxillary sinus tumor in a 6-year-old boy, immunohistologically indistinguishable from a malignant melanoma, that led to the diagnosis of Carney complex. The Carney complex is an autosomal dominant disorder characterized by mucocutaneous pigmented lesions and neoplasia of multiple endocrine glands and is usually due to an inactivating mutation of the gene for the protein kinase A regulatory subunit 1A. The Carney complex has characteristic head and neck manifestations that can point to the diagnosis of this potentially lethal condition.
Ryan
Matthew W
MW
Department of Otolaryngology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9035, United States. Matthew.ryan@utsouthwestern.edu
Cunningham
Samuel
S
Xiao
Shu-Yuan
SY
D002648:Child; D025063:Chromosome Disorders / Q000235:genetics; D054743:Cyclic AMP-Dependent Protein Kinase Type I / Q000235:genetics; D003937:Diagnosis, Differential; D004701:Endocrine Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008444:Maxillary Sinus Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D008545:Melanoma / Q000000981:diagnostic imaging / Q000473:pathology*; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis* / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D014057:Tomography, X-Ray Computed
D054743:Cyclic AMP-Dependent Protein Kinase Type I