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European Journal of Dermatology

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Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis Volume 24, issue 6, November-December 2014

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Authors
1 IDI-IRCCS Biochemistry Laboratory,
2 Biomedicine and Prevention laboratory,
Tor Vergata University of Rome, Italy
3 Dermatologic Department, S. Andrea Hospital,
S. Vercelli, Italy
4 Clinical and Experimental Medicine Department,
University of Piemonte Orientale “A. Avogadro”,
Novara, Italy
5 National Agency for Evaluation of Universities and Research,
Rome, Italy

Pachyonychia congenita (PC, OMIM #615726) is a rare autosomal-dominant genodermatosis divided into two subtypes: PC-1 (Jadassohn-Lewandowski type, OMIM#167200) and PC-2 (Jackson-Lawler type, OMIM#167210). Both subtypes manifest with hypertrophic onychodystrophy and a variable degree of focal palmoplantar keratoderma (PPK), angular cheilitis and follicular keratoses of elbows, knees and hips. PC-1 usually shows most prominent leukokeratosis and is associated with K6a and K16 mutations. PC-2 shows [...]