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Two new cases of epidermolysis bullosa simplex with mottled pigmentation: A father and son

Book ID
116584972
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
39 KB
Volume
60
Category
Article
ISSN
1097-6787

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๐Ÿ“œ SIMILAR VOLUMES

Molecular confirmation of the unique phe
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation
โœ A.D. Irvine; E.L. Rugg; E.B. Lane; S. Hoare; C. Peret; A.E. Hughes; A.H. Heagert ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 689 KB

## Background: A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (ebs-mp), was initially characterized in a swedish family in 1979, and seven further families have been reported. features of ebs-mp that are observed in most affected patients

Epidermolysis bullosa simplex with mottl
Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients
โœ Moog, U.; de Die-Smulders, C.E.M.; Scheffer, H.; van der Vlies, P.; Henquet, C.J ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 39 KB ๐Ÿ‘ 2 views

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare dermatologic disorder of autosomal dominant inheritance with intraepidermal blistering after minor trauma, reticular hyperpigmentation unrelated to the blistering, nail dystrophy, and mild palmoplantar keratosis. Keratin 5 an