{'fraction_non_alphanumeric': 0.026415094339622643, 'fraction_numerical': 0.01761006289308176, 'mean_word_length': 4.91449814126394, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Pachyonychia congenita in the Slovenian population

In Slovenia hereditary disorders of keratinization are rather frequent, more than 250 cases of various types of hereditary palmoplantar keratodermas are known. At least 12 cases of pachyonychia congenita type JadassolmLewandowsky (PC-I) have been diagnosed clinically, while the type Jackson-Lowler (PC-2) has not been observed. According to the data in the literature mutations in keratins K6 and Kl6 were reported in PC-l and of keratin KI7 in PC-2. Symptoms characterizing PC-I: a substantially thickened and brown nail plate, usually affecting all fingers and the majority of toes; insular hyperkeratoses of varying degree on pals and soles; follicular hyperkeratoses mostly on the temples and extensor surfaces of anns. leukokeratosis of the tongue and buccal mucosa. PC-2 patients usually have milder symptoms, they lack oral involvement, but natal teeth and cutaueous cysts can be expressed. In 8 of our patients mutations have been confirmed by molecular analysis of the DNA. In 5 of these, members offamilies A and 0, identical deletion mutations of one codon in the IA Central Rod Domain (helix) of K6a were identified: removal of one of two adjacent asparagine Nl70/171 in exon 1. In two patients belonging to family P a Fl74S mutation (phenylalanine to serine) and in the patient DL NI71K (asparagine to lysine) mutation were detected. Two patients did not follow our invitation for a detailed investigation, in one patient such the DNA analysis is in course, while in I no mutation in keratins K6a, Kl6 and Kl7 were observed.