Pathology

 GJB2 mutations in

• sensorineural deafness
  • type I autosomal recessive neurosensory deafness (DFNB1) (MIM.220290)
  • autosomal dominant deafness (DFNA3) (MIM.601544)

• cutaneous disorders-deafness association
  • autosomal dominant keratitis-ichtyosis-deafness syndrome (MIM.148210)
  • palmoplantar keratoderma with deafness (MIM.148350)
  • Bart-Pumphrey syndrome

• cutaneous disorders
  • hystrix-like ichthyosis (MIM.602540)
  • mutilating keratoderma with ichthyosis (Vohwinkel syndrome with ichtyosis)(MIM.604117)
  • follicular occlusion triad
    • dissecting folliculitis of the scalp
    • hidradenitis suppurativa
    • cystic acne