Unilateral Tonsillar Hypertrophy in a 4-Year-Old Girl with Focal Dermal Hypoplasia (Goltz Syndrome)

Abstract

Objective: To report a case of unilateral tonsillar hypertrophy resulting in severe Obstructive Sleep Apnea in a 4-year-old girl with focal dermal hypoplasia (FDH, Goltz or Goltz-Gorlin) Syndrome.
 Methods:
 Design: Case Report
 Setting: Tertiary Teaching Hospital
 Subject: One
 Results: A 4-year-old girl with Goltz Syndrome (classical features of cutaneous and osteopathic disorders since birth) and unilateral tonsillar hypertrophy manifested with snoring and apneic episodes at two years of age. Polysomnography revealed severe Obstructive Sleep Apnea, and Arterial Blood Gases revealed metabolic acidosis with hypoxemia. A tonsillectomy and adenoidectomy improved breathing, appetite and sleep with resolution of snoring and apneic spells and final tonsil histopathology revealed lymphoepithelial polyp.
 Conclusion: A 4-year-old child with Goltz syndrome, who developed severe obstructive sleep apnea due to tonsillar hypertrophy was presented. Otolaryngologists should be aware of this syndrome, which may manifest with oral and mucosal lesions. Although rare, Goltz syndrome may be considered in the differential diagnosis of tonsillar hypertrophy especially in the presence of the inherent clinical features. Physicians should educate patients and address the co-morbidities associated with it through individualized treatment. 
 
 Keywords: Focal Dermal Hypoplasia, Unilateral Tonsillar Hypertrophy, Goltz Syndrome, Goltz-Gorlin Syndrome