187 Genetic diagnosis of pachyonychia congenita and keratoderma
نویسندگان
چکیده
منابع مشابه
Pachyonychia Congenita: New Classification and Diagnosis
We would like to emphasize the importance of genetic testing to confirm a clinical diagnosis, draw your attention to the revised classification of pachyonychia congenita (PC) and provide further information regarding this rare skin disorder. Historically, PC was subdivided, with the two major clinical forms being PC-1 and PC-2. With an improvement in the understanding of the disease based on de...
متن کاملKeratin 16 null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders
Keratin 16 (KRT16 in human, Krt16 in mouse), a type I intermediate filament protein, is constitutively expressed in epithelial appendages and is induced in the epidermis upon wounding and other stressors. Mutations altering the coding sequence of KRT16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, oral leukokeratosis, and pal...
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...
متن کاملThe phenotypic and molecular genetic features of pachyonychia congenita.
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. The main clinical features of the condition include painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokeratosis, and a variety of epidermal cysts. Although the ...
متن کاملPachyonychia Congenita-Associated Alopecia
A 5-year-old female, known case of pachyonychia congenita, presented with diffuse hair loss; remaining hairs were easily plucked kinky hairs. Hair samples from patient were investigated using a light microscope. The hairs of the patients were mainly anagen hairs and unlike normal plucked anagen hairs, showed keratinization and cornification of their hair bulbs. No specific hair shaft abnormalit...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.07.184