Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations
نویسندگان
چکیده
منابع مشابه
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
BACKGROUND Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. OBJECTIVES Living with Pachyonychia Congenita can be iso...
متن کاملPachyonychia 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 کاملPachyonychia congenita with corneal dystrophy.
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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...
متن کاملTreatment of pachyonychia congenita.
There are currently no specific treatments for pachyonychia congenita (PC). Available treatments generally are directed at specific manifestations of the disorder, and an effective treatment plan must recognize that different patients are more or less troubled by different manifestations of the disease. Treatment for all aspects of PC has been less than completely satisfactory. Very few studies...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2011
ISSN: 0022-202X
DOI: 10.1038/jid.2010.373