Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature

Dale S. DiSalvo, Benjamin S. Oberman, Joshua I. Warrick, David Goldenberg

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)188-191
Number of pages4
JournalHead and Neck Pathology
Issue number2
StatePublished - Jun 1 2016

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Otorhinolaryngology
  • Oncology


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