Lamellar ichthyosis in Child
Alerts and Notices
Important News & Links
Synopsis
Lamellar ichthyosis is an inherited disorder, most often due to an error in the keratinocyte transglutaminase gene I, resulting in a defect in cell envelope formation and cornification. The inheritance is almost always autosomal recessive. The hallmark of the disease is a collodion membrane at birth, followed by thick plate-like scales on most of the skin surface. Collodion babies tend to be premature, having all the associated risks of prematurity.
Codes
ICD10CM:
Q80.2 – Lamellar ichthyosis
SNOMEDCT:
205550003 – Lamellar ichthyosis
Q80.2 – Lamellar ichthyosis
SNOMEDCT:
205550003 – Lamellar ichthyosis
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
- Non-bullous congenital ichthyosiform erythroderma (n-CIE) is the primary differential diagnosis. In n-CIE, the scale is thinner, but erythroderma is more pronounced.
- Sjögren-Larsson syndrome
- Chanarin-Dorfman syndrome (neutral lipid storage disease) – Has lamellar ichthyosis at birth, myopathy, and vacuolated leukocytes.
- Tay syndrome (see trichothiodystrophy) – Has generalized ichthyosis, intellectual disability, and a hair shaft abnormality.
- Netherton syndrome – Presents with generalized scaling and erythroderma along with the hair shaft anomaly trichorrhexis invaginata. It is not associated with a collodion phenotype. Ichthyosis linearis circumflexa usually has a double-edge scale but is not seen before 2 years of age.
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Updated:01/18/2022
Lamellar ichthyosis in Child