An autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction.
RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
rhinitis +
rhinoscleroma
severe acute respiratory syndrome
sinusitis +
skin papilloma +
Supraglottitis +
tracheitis
X-linked retinitis pigmentosa and sinorespiratory infections