Congenital nonbullous ichthyosiform erythroderma in Adult
Several disorders, mostly with autosomal recessive inheritance and very rarely autosomal dominant inheritance, are included under this diagnosis. Some cases of harlequin ichthyosis may evolve into non-bullous CIE. These disorders are distinct from the lamellar ichthyosis form of non-bullous CIE, although at times this distinction is difficult.
Individuals may frequently have chronic secondary infection with dermatophytes, and rarely adults with this disorder have developed cutaneous squamous cell carcinomas.
Genes that are mutated and cause this condition include:
- ALOXE3 and ALOX12B – Genes involved with production of epidermal lipids.
- ABCA12 – Controls a liver transport protein and may cause severe forms of this disorder.
- Ichthyic mutations of a transmembrane protein.
- Some mutations of transglutaminase I may cause this form of non-bullous CIE.
- Patients with loss-of-function mutations in sphingosine-1-phosphate lyase may have nephrosis with ichthyosis and adrenal insufficiency.
Q80.8 – Other congenital ichthyosis
267372009 – Congenital non bullous ichthyosiform erythroderma
- The lamellar form of congenital ichthyosiform erythroderma is the primary differential diagnosis. In this form, the scales are larger and darker, and erythema is often less prominent.
- Sjögren-Larsson syndrome – Spastic diplegia and retinal abnormalities are common.
- Collodion baby
- 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 with tiger-tail banding and striping under polarizing microscopy.
- 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.