Congenital ichthyosiform erythroderma

Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform erythroderma[1]:484 is a rare type of the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births.

Congenital Ichthyosiform Erythroderma
SpecialtyMedical genetics 

Symptoms

CIE has symptoms very similar to Lamellar ichthyosis (LI) but milder and is considered by many scientists to be a variant of that disease, so both diseases are grouped under the title autosomal recessive congenital ichthyosis (ARCI).[2]

The baby is often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with ectropion, having the lower eyelid turned outwards. When the membrane is shed the skin is red with a generalized white scale. Palms, soles and areas on the joints are often affected with hyperkeratosis, a thickening of the layer of dead skin cells on the surface of the skin. In classical CIE (unlike LI) there is little eclabion (eversion of the lips), ectropion and alopecia (hair loss).

Many people with ACRI don't fit neatly into the definition of LI or CIE but have characteristics of both diseases. The definitions of CIE and LI describe the extremes of the range of ACRI. [3] [4]

Genetics

CIE is an autosomal recessive genetic disorder. This means a child must inherit a defective pair of genes (one from each parent) to show the symptoms. Parents who are carriers of the defective genes show no symptoms but their children have a 25% chance of having CIE.

There are several genetic faults which can produce CIE. Known ones are in the transglutaminase-1 gene (TGM1), the 12R-lipoxygenase gene (ALOX12B), the lipoxygenase-3 gene (ALOXE3) and the ABHD5 gene.[5]:561

Defects in the ABHD5 gene produce a type of CIE called Neutral lipid storage disease (Chanarin-Dorfman syndrome).[6]

Diagnosis

Treatment

See also

References
  1. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. Lamellar ichthyosis/CIE - New concepts, new mutations., Recent Ichthyosis Research, F.I.R.S.T.
  3. Congenital Ichthyosiform Erythroderma, Types of Ichthyosis, F.I.R.S.T
  4. Congenital Ichthyosis Archived 2006-06-20 at the Wayback Machine, Rare Disease Registry, University of Padua, Italy
  5. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  6. OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosiform erythroderma, congenital, nonbullous, 1
Classification
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