Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome.
A family with three members in two generations affected by pachyonychia congenita, hyperkeratosis and hyperhidrosis of the palms and soles, follicular keratosis, neonatal teeth and epidermoid cysts (Jackson-Lawler syndrome) is described. The nosological autonomy of this condition is proposed and a further heterogeneity is suggested on the basis of histopathological changes in the subcutaneous cysts.
D000328:Adult; D004814:Epidermal Cyst / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009264:Nails, Malformed / Q000151:congenital*; D009306:Natal Teeth; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome