title: Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis.
abstract: We report the case of a 2-year-old boy from a family with limited financial resources who presented with cutaneous abnormalities, a history of congenital heart defect, and a presumptive diagnosis of Noonan syndrome. Genetic testing had been deferred because of a lack of funds. Skin findings were characteristic of cardiofaciocutaneous syndrome, including keratosis pilaris, ichthyosis, sparse eyebrows, and multiple nevi. A biopsy of a perifollicular thick papule with background hyperpigmentation was obtained to further characterize the cutaneous findings. Clinical evaluation allowed rapid, cost-effective, specific diagnosis in this patient with a RASopathy-spectrum genetic disorder who did not have access to genetic testing. This time-honored clinical approach is adequate for providing information important for prognosis, follow-up, and counseling. We will also discuss available resources for genetic testing and specialized care for patients with RASopathies.
authors.affiliation: Department of Dermatology, School of Medicine, Saint Louis University, St. Louis, Missouri.
authors.forename: Zachary T
authors.initials: ZT
authors.lastname: Bryan
authors.forename: Tricia A
authors.initials: TA
authors.lastname: Missall
authors.forename: Stacy
authors.initials: S
authors.lastname: Stieren
authors.forename: Elaine
authors.initials: E
authors.lastname: Siegfried
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Burkemper
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D019066:Facies; D005183:Failure to Thrive / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis / Q000473:pathology*