B-ENT
Case Report

Tonsillar Hypertrophy in Goltz-Gorlin Syndrome: Case Report and Literature Review

1.

Department of Otorhinolaryngology and Head & Neck Surgery, Antwerp University Hospital, Edegem, Belgium

2.

Department of Medical Genetics, Antwerp University Hospital, Edegem, Belgium

3.

Faculty of Medicine and Translational Neurosciences, University of Antwerp, Antwerp, Belgium

B-ENT 2020; 1: -
DOI: 10.5152/B-ENT.2022.21817
Read: 252 Downloads: 98 Published: 20 May 2022

Goltz-Gorlin syndrome, also known as focal dermal hypoplasia or nevoid basal cell carcinoma syndrome, is a rare multisystemic disease caused by autosomal dominant mutations in the PORCN gene. The characterizing features are keratocystic odontogenic tumors in the jaw, multiple basal cell carcinomas, calcification of the falx cerebri, palmar or plantar pits, and skeletal abnormalities. This paper reports the case of a 3-year- old girl with Goltz-Gorlin syndrome, showing progressively increasing tonsillar hypertrophy with obstructive effect on the oropharynx. The lym- phatic tissue was remarkably papillomatous in aspect. Pathologic examination after tonsillectomy showed hyperplastic, morphologically normal tonsillar tissue, without arguments for papilloma, active inflammation, or malignancy. This paper highlights the rare manifestations of ENT pathologies in GGS which demand attention early on and long-term follow-up.

Cite this article as: Lavrysen E, Loeys B, Vanderveken OM, Boudewyns A. Tonsillar hypertrophy in goltz-gorlin syndrome: Case report and literature review. B-ENT 13 May 2022 10.5152/B-ENT.2022.21817 [Epub Ahead of Print]

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