MOLECULAR STUDY EPIDERMOLYSIS BULLOSA SIMPLEX (EXONS 1,5,7-KRT5, EXONS 1,4-7-KRT14) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4096

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. Onset is usually in late infancy or early childhood. The usual distribution of blisters in these patients is on the palms and soles, although other skin surfaces may also blister if subjected to significant trauma. Milia and scarring are rare in localized EBS, and dystrophic nails are uncommon. Focal keratoderma of the palms and soles may occur by adulthood in some patients. The only common extracutaneous finding in localized EBS, i.e. localized intraoral erosions or blisters, tends to be asymptomatic, occurs in about one third of patients, and is usually seen only during infancy. Localized EBS is caused by mutations within either the KRT5(12q13.13) or KRT14 (17q12-q21) genes. Transmission is autosomal dominant and sporadic cases are frequent. Although the disease can be disabling, life-expectancy is normal.
Links:
OMIM Entry - # 131800 - EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
Orphanet- Localized epidermolysis bullosa simplex
OMIM Entry - - 148040 - KERATIN 5; KRT5
OMIM Entry - - 148066 - KERATIN 14; KRT14

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