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pachyonychia congenita type 2 (Jackson-Lawler type)
Pathology:
- ectodermal dysplasia
Genetics:
- autosomal dominant
- associated with defects in KRT6B, KRT17
Clinical manifestations:
- hypertrophic nail dystrophy resulting in onchyogryposis (thickening & increase in curvature of the nail), palmoplantar keratoderma & hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow & body hair, & by the presence of natal teeth
General
pachyonychia congenita
Database Correlations
OMIM 167210
References
OMIM :accession 167210