Lamellar ichthyosis in Adult
Q80.2 – Lamellar ichthyosis
205550003 – Lamellar ichthyosis
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.