Palmoplantar keratoderma-deafness syndrome

Palmoplantar keratoderma-deafness syndrome (also known as keratoderma-hypotrichosis-leukonychia totalis syndrome, or PPK-deafness syndrome) is a rare genetic disorder characterized by the combination of palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet) and sensorineural hearing loss. The condition primarily affects the integumentary system (skin, hair, and nails) and the auditory system. Onset of symptoms typically occurs in childhood, with progressive thickening of the palmar and plantar skin that can cause discomfort and functional impairment. The hearing loss is sensorineural in nature and can range from moderate to profound, potentially affecting speech and language development if not identified early. Additional features that may be observed in some patients include nail abnormalities (such as leukonychia or dystrophic nails), hypotrichosis (sparse hair), and knuckle pads. The severity and combination of features can vary among affected individuals, even within the same family. Several genetic forms of palmoplantar keratoderma associated with deafness have been described, including forms linked to mutations in connexin genes (such as GJB2) and mitochondrial mutations, reflecting genetic heterogeneity. There is currently no cure for palmoplantar keratoderma-deafness syndrome. Treatment is symptomatic and supportive. Management of the keratoderma involves regular use of emollients, keratolytic agents (such as salicylic acid or urea-based creams), and careful mechanical debridement of thickened skin. Hearing loss is managed with hearing aids or cochlear implants depending on severity. Early audiological assessment and intervention are important for optimizing communication and developmental outcomes. Genetic counseling is recommended for affected families to understand recurrence risks and inheritance patterns.

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