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Ichthyosis Vulgaris
Ichthyosis vulgaris (IV) is the most common type of ichthyosis with an estimated prevalence of 1 in 250 to 400 individuals. The disorder initially presents with dry skin and mild to moderate scaling during infancy or early childhood. Fine, white, flaky scales cover the extensor surfaces of the extremities with sparing of the groin and [...]
+ Mutation-specific testing + Prenatal testingIchthyosis vulgaris (IV) is the most common type of ichthyosis with an estimated prevalence of 1 in 250 to 400 individuals. The disorder initially presents with dry skin and mild to moderate scaling during infancy or early childhood. Fine, white, flaky scales cover the extensor surfaces of the extremities with sparing of the groin and flexural areas. The scales are usually larger on the lower legs, with detached, outward turning edges. The palms and soles appear hyperlinear with accentuated skin markings due to mild hyperkeratosis. Cracking and painful fissures of the heels are common. In more severe disease, scaling extends to large areas of the trunk, scalp, forehead and cheeks, and there may be itchiness and heat intolerance. Clinical symptoms and severity depend on season and climate, improving during the summer and with increasing humidity, and worsening in a dry, cold environment. Ichthyosis vulgaris is frequently associated with keratosis pilaris and features of atopic disease: atopic dermatitis (AD), asthma, and hay fever. Atopic dermatitis is encountered in as many as 25 to 50% of IV patients, and can obscure the characteristic sparing of the flexures. However, the group of patients with atopic dermatitis who also have ichthyosis vulgaris is small
+ Mutation-specific testing + Prenatal testingTests Available
FLG Hot Spots
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- FLG
- Clinical Utility:
-
- Confirmation of a clinical diagnosis
- To differentiate from other forms of ichthyosis (X-linked, mild lamellar ichthyosis, others)
- Risk assessment for atopic dermatitis
- Lab Method:
- Capillary Sequencing
ORDERING
- Test Code:
- 123
- Turnaround Time:
- 2-3 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- List Price:
- $500.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
REFERENCES
- Greisenegger et al. JEADV 24: 607-610, 2010
- Seller et al. British Journal of Dermatology 160: 771-781, 2009
- Stemmler S. et al. J Invest Dermatol 2006 (Epub ahead of print)
- Marenholz I. et al. J Allergy Clin Immunol 118:866-871, 2006
- Weidinger S. et al. J Allergy Clin Immunol 118:214-219, 2006
- Palmer CNA. et al. Nat Genet 38(4):441-446 , 2006
- Sandilands A., et al. J Invest Dermatol 126: 1770-1775, 2006
- Smith FJD. et al. Nat Genet 38(3):337-342, 2006
- Barker JN. J Invest Dermatol. 2006 (Epub ahead of print)
