This rare condition is characterized by keratitis, ichthyosis, and deafness. It usually occurs as a sporadic condition, but instances of vertical transmission have been described, indicating autosomal dominant inheritance. There are hyperkeratotic plaques on the skin and reticulated keratosis of the face, with keratoderma. Ichthyosis develops soon after birth, especially over extensor aspects of the skin. Sensorineural deafness is present from birth, and loss of visual acuity develops due to corneal vascularization and opacification. Hair is sparse and the nails may be dystrophic. Recurrent Candida infection of the skin occurs in 50 % of cases, although no consistent immunological defect has been demonstrated. Cutaneous infections and abscesses may develop, and multiple squamous cell carcinomas ensue.
Germline mutations in the GJB2 gene encoding connexin 26 cause this syndrome (Yotsumoto et al. 2003; Janecke et al. 2005).