title: Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature.
abstract: Focal dermal hypoplasia (Goltz syndrome; GS) is an X-linked dominant disorder caused by a mutation in the porcupine homolog (PORCN) gene and is typically embryonically lethal for males. The presence of disease in males is usually the result of post-zygotic mutation, but may also be due to mosaicism. The presentation of this disorder is highly variable, but generally is characterized by cutaneous, skeletal, ocular, oral, dental, and aural defects. Cutaneous manifestations include foci of hypoplastic skin, abnormal pigmentation, and papillomatous growths. We present both the first case of a patient with GS related laryngeal obstruction due to papillary lymphoid hyperplasia in an adult, and the first case in a male patient. Clinical, histologic, and genetic features of the disease are discussed. Operative technique for management of the patient with pharyngeal lesions is detailed, and intraoperative photos are showcased. The challenge in airway evaluation and management is also highlighted as manifestations of GS are rarely encountered in the airway and can cause laryngeal obstruction.
authors.affiliation: Division of Otolaryngology-Head and Neck Surgery, Department of Surgery, The Pennsylvania State University, College of Medicine, 500 University Drive, H091, Hershey, PA, 17033-0850, USA.
authors.forename: Dale S
authors.initials: DS
authors.lastname: DiSalvo
authors.affiliation: Division of Otolaryngology-Head and Neck Surgery, Department of Surgery, The Pennsylvania State University, College of Medicine, 500 University Drive, H091, Hershey, PA, 17033-0850, USA.
authors.forename: Benjamin S
authors.initials: BS
authors.lastname: Oberman
authors.affiliation: Division of Anatomic Pathology, Department of Pathology, The Pennsylvania State University, College of Medicine, Hershey, PA, USA.
authors.forename: Joshua I
authors.initials: JI
authors.lastname: Warrick
authors.affiliation: Division of Otolaryngology-Head and Neck Surgery, Department of Surgery, The Pennsylvania State University, College of Medicine, 500 University Drive, H091, Hershey, PA, 17033-0850, USA. dgoldenberg@hmc.psu.edu.
authors.forename: David
authors.initials: D
authors.lastname: Goldenberg
mesh_terms: D000328:Adult; D005489:Focal Dermal Hypoplasia / Q000150:complications* / Q000473:pathology*; D006801:Humans; D008297:Male; D010608:Pharyngeal Diseases / Q000209:etiology* / Q000473:pathology*
keywords: Focal dermal hypoplasia; Goltz syndrome; PORCN gene; Papillary lymphoid hyperplasia