Bart-Pumphrey syndrome
Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability.
Nosological overlaps
Vohwinkel syndrome
Keratitis-Ichthyosis-Deafness syndrome
Etiology
dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26
References
Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol. 2004 Nov;123(5):856-63. PMID: 15482471