Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
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چکیده
منابع مشابه
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
BACKGROUND Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a fav...
متن کاملClinical and pathological features of pachyonychia congenita.
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC c...
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متن کاملPachyonychia congenita with corneal dystrophy.
Sec. 107. Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is ...
متن کاملPachyonychia congenita with laryngeal obstruction.
Pachyonychia congenita is a rare genodermatosis that can affect the larynx. Laryngeal obstruction is very unusual with only a few cases reported. A 2-year-old girl presented with typical clinical features of pachyonychia congenita shortly after birth. At age 9 months, following an upper respiratory infection, she developed stridor and hoarseness and was found to have severe laryngeal obstructio...
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ژورنال
عنوان ژورنال: Case Reports in Dermatology
سال: 2015
ISSN: 1662-6567
DOI: 10.1159/000438920