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Images in Dermatology
July 29, 2020

Bart-Pumphrey Syndrome

Author Affiliations
  • 1Basra Medical College, Basra, Iraq
  • 2Basra Training Center of Iraqi and Arab Board in Dermatology and Venereology, Basra, Iraq
  • 3Division of Dermatology, Al-Sadr Teaching Hospital, Basra, Iraq
  • 4Division of Dermatology, Basra Teaching Hospital, Basra, Iraq
JAMA Dermatol. Published online July 29, 2020. doi:10.1001/jamadermatol.2020.2555

A 20-year-old Iraqi man presented with a 12-year history of verrucous-like papulonodular lesions on the dorsal aspects of the proximal interphalangeal and metacarpophalangeal joints of both hands associated with total leukonychia of all nails (Figure, A). He denied any history of trauma to his fingers. Diffuse palmoplantar hyperkeratosis, particularly evident along the palmar creases, was also detected (Figure, B). The patient also had hearing loss since birth, and he communicated by using sign language. His mother and one of his sisters had the same clinical characteristics. Based on these findings, the diagnosis of Bart-Pumphrey syndrome (BPS) was made. Bart-Pumphrey syndrome (OMIM 149200), also known as knuckle pads, leukonychia, and sensorineural deafness, is a rare autosomal-dominant syndrome. It was described in 1967 by Bart and Pumphrey.1 To our knowledge, only a few families with this syndrome have been reported worldwide. It occurs in patients with pathogenic variants in the gap junction β2 gene (GJB2) encoding connexin 26.2 Patients with BPS usually have knuckle pads, leukonychia, palmoplantar keratoderma, and hearing loss. Knuckle pads are well-defined, hyperkeratotic or fibrous thickenings over the extensor aspects of the small joints of the fingers and/or toes. These lesions should be differentiated from “pseudo knuckle pads,” which are associated with occupational trauma and tend to disappear when traumatic stimulus is removed. Rheumatoid nodules and erythema elevatum diutinum should also be excluded. Leukonychia of BPS may involve the total nail, or it may occur in patches.3,4 Palmoplantar keratoderma that may be seen in BPS may be diffuse and striate with a grainy surface. It is particularly evident along the skin creases. Hearing loss typically exists from birth and may be of sensorineural (most common), mixed, or conductive type.3 Treatment with oral retinoids can improve the skin symptoms. Leukonychia may improve with age. Patients with hearing loss may get benefit from hearing aids, cochlear implants, educational programs, speech therapy, and language training.

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