Pachyonychia Congenita

A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.

Also Known As:

Jadassohn-Lewandowsky Syndrome; Pachyonychia Congenita, Jackson-Lawler Type; Congenital Pachyonychia; Jackson-Lawler Syndrome (Pc-2); Jackson-Lawler Type Pachyonychia Congenita; Jadassohn-Lewandowski Syndrome (Pc-1); Pachyonychia Congenita Jackson Lawler Type; Pachyonychia Congenita Syndrome; Pachyonychia Congenita Tarda, Type 1; Pachyonychia Congenita, Jadassohn-Lewandowsky Type; Type 1 Pachyonychia Congenita; Type 2 Pachyonychia Congenita; Jackson Lawler Syndrome (Pc 2); Jackson Lawler Type Pachyonychia Congenita; Jadassohn Lewandowski Syndrome (Pc 1); Jadassohn Lewandowsky Syndrome; Pachyonychia Congenita, Jackson Lawler Type; Pachyonychia Congenita, Jadassohn Lewandowsky Type; Pachyonychia, Congenital; Syndrome, Jackson-Lawler (Pc-2); Syndrome, Jadassohn-Lewandowski (Pc-1); Pachyonychia Congenita Type 1; Pachyonychia Congenita, Type 1; Pachyonychia Congenita, Type 2

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Ectodermal Dysplasia: 505
      - Pachyonychia Congenita: 162
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Pachyonychia Congenita: 162
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Pachyonychia Congenita: 162
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Pachyonychia Congenita: 162
  - Nail Diseases: 101
    - Pachyonychia Congenita: 162
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Pachyonychia Congenita: 162

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