. Author manuscript; available in PMC: 2018 Nov 1.

Published in final edited form as: Br J Dermatol. 2017 Oct 8;177(5):e200–e201. doi: 10.1111/bjd.15586

Table 1.

Clinical features in the proband compared to previously reported frequency of these features in XLPDR.

Manifestations	Reported Proband	Occurrence in previously reported cases⁹
Diffuse Hyperpigmentation	+	100%
Facies	+	100%
Lung infections/Bronchiectasis	+	92%
Hypohidrosis	+	64%
Enterocolitis and diarrhea	+	64%
Failure to thrive	−	57%
Corneal inflammation/scarring	+	50%
Recurrent non-pulmonary infections	−	38%
Urethral strictures	+	35%
Digital Clubbing	+	21%
Toe abnormalities	−	21%
Mycobacterial infection	−	14%