247 A role for iRhom2 in pachyonychia congenita
نویسندگان
چکیده
منابع مشابه
Pachyonychia congenita: A rare genodermatosis
Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis ...
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 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...
متن کاملPachyonychia congenita Authors: Professors
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails and other ectodermal tissues. It is mainly characterized by gross thickening of all finger and toe nails. Different additional clinical features are observed; they fit into two major types: the Jadassohn-Lewandowsky and the Jackson-Lawler syndrome. The condition is usually transmitted as an autosomal dominant trait, though...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2019
ISSN: 0022-202X
DOI: 10.1016/j.jid.2019.07.248