Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome, also known as Bart-Pumphrey syndrome, is an extremely rare genetic disorder characterized by a distinctive combination of skin, nail, and hearing abnormalities. The condition affects multiple body systems including the integumentary system (skin and nails) and the auditory system. The four cardinal features are: knuckle pads (thickened skin over the finger joints), leukonychia (white discoloration of the nails), palmoplantar hyperkeratosis (thickening of the skin on the palms of the hands and soles of the feet), and sensorineural hearing loss, which can range from mild to profound and results from dysfunction of the inner ear or auditory nerve. The syndrome is caused by mutations in the GJB2 gene, which encodes connexin 26, a gap junction protein critical for cell-to-cell communication in the skin and inner ear. The knuckle pads typically appear during childhood and may become more prominent over time. Leukonychia is usually present from birth or early infancy. The degree of hearing impairment is variable among affected individuals, even within the same family. There is currently no cure for Bart-Pumphrey syndrome. Management is symptomatic and supportive. Hearing aids or cochlear implants may be recommended depending on the severity of hearing loss. Dermatological treatments such as keratolytic agents or emollients may help manage the skin thickening, though knuckle pads and palmoplantar keratoderma tend to be persistent. Regular audiological monitoring is important, particularly in childhood, to ensure appropriate hearing support and speech development.

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