Pachyonychia congenita

Abstract

Pachyonychia congenita (PO) is a rare dermatosis belonging to the broad group of hereditary palmoplantar keratoses. Judging by the reports in the literature it seems to be rare in large populations but is not that much rare in South-Slav peoples. The main symptoms are a substantially thickened nail-plate of greyish-brown color and a rough surface, follicular hyperkeratosis of the face and extensor surfaces of the proximal parts of extremities and also elsewhere, insular hyperkeratosis of palms and soles with blisters appearing at hyperkeratotic areas especially in summer, leukokeratosis of oral mucosa as well as other less important symptoms. Although a number of disorders may share certain common symptoms, the most serious diagnostic problems present candidiasis and epidermolysis hereditaria dystrophica dominans. The inheritance is assumed to be autosomal dominant, there are however certain observations which allow a somewhat different interpretation. These observations are reviewed in details. The true pathologic mechanism responsible for the disorder is not known. The methods for treating PO have been up to now rather, unsatisfactory. To make this problem apparent a Slovenian family with PO is presented.