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Congenital non-bullous ichthyosiform erythroderma in Adult
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Congenital non-bullous ichthyosiform erythroderma in Adult

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
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Synopsis

Non-bullous congenital ichthyosiform erythroderma (non-bullous CIE) includes genetic disorders that frequently present at birth as a collodion baby, with generalized red skin that is frequently cracked and has decreased barrier function and increased water loss; patients are at risk for systemic infection. Over a span of days to weeks, the skin becomes scaly, most frequently with small white scales, and remains red. Sometimes ectropion is present. This condition persists throughout the individual's life.

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.
  • NIPAL4
  • 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.
Both sexes are equally affected, and all ethnic groups are involved. There may be consanguinity in some patients.

For more information on autosomal recessive type 1, see OMIM.

For more information on autosomal recessive type 2, see OMIM.

Codes

ICD10CM:
Q80.8 – Other congenital ichthyosis

SNOMEDCT:
267372009 – Congenital non bullous ichthyosiform erythroderma

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • 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.

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Last Updated: 10/23/2018
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Congenital non-bullous ichthyosiform erythroderma in Adult
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Congenital non-bullous ichthyosiform erythroderma (Child/Adult) : Erythema, Erythroderma, Skin cracks, Hypohidrosis, Ichthyosis, Mild ectropion
Clinical image of Congenital non-bullous ichthyosiform erythroderma
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