Nail that Mutation—Keratin 17 Defect in Late-Onset Pachyonychia
نویسندگان
چکیده
منابع مشابه
Pachyonychia congenita with late onset (PC tarda)
Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed h...
متن کاملPachyonychia congenita tarda: very late onset.
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متن کاملPachyonychia congenita with only nail involvement.
Dear Editor, A 10-year-old boy presented with progressive thickening of the nails over the previous 5 years. He did not have any other cutaneous and/or systemic symptoms. He was born to healthy non-consanguineous parents following an uneventful pregnancy. Upon examination, he was found to have symmetrical involvement of the finger and toenails with marked hard thickening of the distal portion o...
متن کاملPachyonychia congenita type I presenting with subtle nail changes.
Pachyonychia congenita type I is an autosomal dominant disorder where nail abnormalities are a constant feature and develop during childhood. We report here a family with pachyonychia congenita type I and very mild nail changes to underline that this diagnosis should be considered even in the absence of severe nail thickening.
متن کاملCharacterization of the Enzymatic Defect in Late - Onset Muscle
Human phosphofructokinase (PFK) exists in tetrameric isozymic forms, at least in vitro. Muscle and liver contain homotetramers M4 and L4, respectively, whereas red cells contain five isozymes composed ofM (muscle) and L (liver) type subunits, i.e., M4, M3L, M2L2, and ML3, and L4. Homozygous deficiency of muscle PFK results in the classic glycogen storage disease type VII characterized by exerti...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2004
ISSN: 0022-202X
DOI: 10.1111/j.0022-202x.2004.22437.x