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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

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Congenital nonbullous ichthyosiform erythroderma (n-CIE) is the primary differential diagnosis. In n-CIE, the scale is thinner, but erythroderma is more pronounced.
  • Sjögren-Larsson syndrome
  • Neutral lipid storage disease (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

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Management Pearls

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Therapy

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References

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Last Updated:01/18/2022
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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.
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