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

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. 2023;19(1):64-66.