Respiratory papillomatosis, juvenile recurrent, congenital

Congenital juvenile respiratory papillomatosis (JRRP) is 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. Affected individuals may also have mild dermatologic abnormalities similar to those observed in AIADK. While JRRP is a genetic disorder resulting from abnormal activation of the immune system, RRP in general is usually associated with acquired HPV infection, commonly with HPV types 6 and 11 (summary by Drutman et al., 2019). [from OMIM]