From MedlinePlus GeneticsPachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.
Almost everyone with pachyonychia congenita develops very painful calluses on the soles of the feet. This condition is known as plantar keratoderma. Calluses usually begin to form on the feet in childhood when kids first start to walk. The calluses can make walking painful or impossible. In some affected individuals, blisters, bundles of blood vessels and nerves (neurovascular structures), or a deep itch may develop under or near the calluses, increasing pain and discomfort.
Most people with pachyonychia congenita also show some signs of hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. The number of affected nails varies.
Pachyonychia congenita can have several additional features. These features include thickened skin on the palms of the hands (palmar keratoderma), which can be painful; thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps that develop around hair follicles (follicular keratoses) on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis).
Researchers used to classigy pachyonychia congenita as either PC-1 or PC-2 based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the signs and symptoms of the types overlapped considerably. Pachyonychia congenita is now classified into five types based on the gene that is altered.
Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Some babies and children with pachyonychia congenita have pain in one or both ears when beginning to eat or drink. Pachyonychia congenita can also affect the voice box (larynx), causing hoarseness or breathing problems.
https://medlineplus.gov/genetics/condition/pachyonychia-congenita