[MIM  167 200, 167 210, 260 130, 615 726, 615 728]

Unknown prevalence: extremely rare. Autosomal dominant transmission. It was formely clasified as follows: type 1, or Jadasshon-Lewandowsky syndrome, and type 2, or Jackson-Lawler syndrome.

There are currently 4 subgroups according to the mutated gene:

-        PC-K6a: KRT6A gene

-        PC-K6b: KRT6B gene

-        PC-K16: KRT16 gene (12q13.3)

-        PC-K17: KRT17 gene (7q21.2)

Disorder of skin structure causing:

-        dystrophy and hypertrophy of the nails of the fingers and toes

-        palmoplantar keratoderma: formation of painful bubbles and calli, especially at the level of the feet; these lesions appear early when the child starts walking

-        palmoplantar hyperhidrosis: profuse sweating

-        and in general, a whitish mucosa ( leukokeratotic plates)

Pilosebaceous cysts and neonatal teeth can also be observed.

Anesthetic implications:

none; plantar lesions may be a source of disability and chronic pain; hyperhidrosis responds well to the local injections of botulinum toxin

References : 

• Tariq S, Schmitz ML, Kanjia MK.
  Chronic foot pain due to pachyonychia congenita in a pediatric patient: a successful management strategy.
  A & A Case Reports 2016; 6: 305-7.

Updated: November 2018