Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Τρίτη 6 Μαρτίου 2018

The Clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa

Distrophic epidermolysis bullosa pruriginosa(DEB-Pr, OMIM#604129) is a rare subtype of epidermolysis bullosa dystrophica. It is characterized by recurrent vesicles and erosions on the extensor of the limbs at birth or shortly thereafter and pruriginosa papules and nodules accompanied with intense itching and nail dystrophy in adult stage1. Histology reveals hyperkeratosis, mild acanthosis and a subepidermal blister formation2. Electron microscopic studies showed alterations in the number and ultrastructure of anchoring fibrils in lesional, perilesional and non-lesional skin3.Previous studies have revealed that DEB-Pr is due to mutations in the COL7A1 gene located on chromosome 3p21 region, which encodes the collagen VII2,4.

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