ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (42)
Lamellar ichthyosis in Child
Print
Other Resources UpToDate PubMed

Lamellar ichthyosis in Child

Print Images (42)
Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

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.

For information on the autosomal recessive variety, see OMIM.

For information on the autosomal dominant variety, see OMIM.

Codes

ICD10CM:
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: 10/12/2018
Copyright © 2018 VisualDx®. All rights reserved.
Lamellar ichthyosis in Child
Print 42 Images Filter Images
View all Images (42)
(with subscription)
 Reset
Lamellar ichthyosis (Child/Adult) : Widespread, Ectropion, Ichthyosis
Clinical image of Lamellar ichthyosis
Copyright © 2018 VisualDx®. All rights reserved.