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An evaluation of long‐term outcomes and recurrence rates in patients with morphea
Author(s) -
Litaiem Noureddine,
Bacha Takwa,
Drissi Haifa,
Zeglaoui Faten
Publication year - 2019
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.14401
Subject(s) - medicine , dermatology
sium. This one, based almost exclusively on the mutated genes, is the most used classification today. It includes: PC-K6a (caused by mutation of KRT6A), PC-K6b (by mutation of KRT6B), PC-K6c (by mutation of KRT6C), PC-K16 (by mutation of KRT16), and PC-K17 (by mutation of KRT17). PC-U (for unknown) is used in cases in whom PC is suspected but no mutation has been found (or not looked for). It is estimated that PC affects from 5,000 to 10,000 people worldwide. Around 45% of cases arise spontaneously in patients with no family history (as in our case). Data show that individuals with a KRT6A mutation have the earliest average onset of thickened nails, with a characteristic affectation of greater number of nails (more than 10). Plantar keratoderma is more frequent than palmar keratoderma in this type of PC, and oral leukokeratosis also is more frequent and has an earlier onset compared with the other types. Follicular hyperkeratosis occurs in 80% of individuals with PC due to KRT6A. In summary, we present a new case of congenital pachyonychia produced by a genetic mutation, de novo, not previously described. We emphasize the importance of taking into account this entity in patients with multiple nail dystrophy and keratoderma, facilitating early diagnosis and proper management, as well as for the realization of genetic counseling. The knowledge of mutations will allow in the near future to develop a phenotypic forecast based on specific mutations.