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Harlequin Ichthyosis

Harlequin ichthyosis (HI) and lamellar ichthyosis (LI) are different types of congenital recessive ichthyosis. Harlequin ichthyosis is the most severe form of ichthyosis and life-threatening. Infants are usually born prematurely and are encased in a thick, hard, armor-like covering that severely restricts movements. The taut cast cracks and forms large, diamond-shaped, adherent plates, which are […]

Harlequin ichthyosis (HI) and lamellar ichthyosis (LI) are different types of congenital recessive ichthyosis. Harlequin ichthyosis is the most severe form of ichthyosis and life-threatening. Infants are usually born prematurely and are encased in a thick, hard, armor-like covering that severely restricts movements. The taut cast cracks and forms large, diamond-shaped, adherent plates, which are separated by broad, deep, and intense red fissures. The taut skin results in deformation of facial features, such as out-turning of eyelids (ectropium) and lips (eclabium), rudimentary development of nose and ears, and microcephaly. Hands and feet are swollen and covered by a mitten-like casing. Malformations of inner organs are not uncommon. The postnatal period is usually complicated by respiratory distress, dehydration, electrolyte imbalance, temperature instability, feeding problems and bacterial infections, often with fatal consequences. In recent years, an increasing number of patients with prolonged survival have been reported. After shedding the armor-like cast, these survivors developed clinical features of severe non-bullous congenital ichthyosiform erythroderma (CIE) with generalized fine, whitish scale and intense redness. Alopecia, thickening of the skin on palms and soles, and heat intolerance are common. In lamellar ichthyosis, babies are born with a taut, translucent collodion membrane that encases the body and may cause ectropium and eclabium. After the membrane is shed, patients develop white or brown, plate-like scale with no or little redness over the entire body.

Tests Available

Congenital Ichthyosis XomeDxSlice

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30), KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4 (Ichthyin), PEX7, PHYH, PNPLA1, PNPLA2, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
Clinical Utility:
  • Identification of the specific molecular basis of congential ichthyosis or related skin disorders
  • Genetic counseling and recurrence risk assessment
  • Option for prenatal testing in future pregnancies
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
708
Turnaround Time:
10-12 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81252x1, 81254x1, 81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
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