Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (88)

Lamellar ichthyosis in Infant/Neonate
Other Resources UpToDate PubMed

Lamellar ichthyosis in Infant/Neonate

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.

Codes

ICD10CM:
Q80.2 – Lamellar ichthyosis

SNOMEDCT:
205550003 – Lamellar ichthyosis

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:01/18/2022
Copyright © 2024 VisualDx®. All rights reserved.
Lamellar ichthyosis in Infant/Neonate
A medical illustration showing key findings of Lamellar ichthyosis (Child/Adult) : Widespread distribution, Ectropion, Ichthyosis
Clinical image of Lamellar ichthyosis - imageId=37020. Click to open in gallery.  caption: 'Diffuse brown ichthyotic scales on the posterior legs.'
Diffuse brown ichthyotic scales on the posterior legs.
Copyright © 2024 VisualDx®. All rights reserved.