Congenital ichthyosiform erythroderma explained

Congenital ichthyosiform erythroderma
Synonyms:	Nonbullous congenital ichthyosiform erythroderma

Congenital ichthyosiform erythroderma, also known as nonbullous congenital ichthyosiform erythroderma,^[1] is a rare type of the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births. The disease comes under the umbrella term autosomal recessive congenital ichthyosis, which include non-syndromic congenital ichthyoses such as harlequin ichthyosis and lamellar ichthyosis.^[2]

Symptoms and signs

Infants are often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with ectropion, a condition in which the eyelids turn 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 forming scales. Eclabium (eversion of the lips), ectropion and alopecia (hair loss) are more common in congenital ichthyosiform erythroderma than in lamellar ichthyosis.^[3]

Congenital ichthyosiform erythroderma can present very similarly to lamellar ichthyosis and they often share characteristics, though the two conditions can often be differentiated by the appearance of the scales. Scales on patients with congenital ichthyosiform erythroderma are fine and white on skin with erythema while they appear larger and greyer on the limbs, compared to lamellar ichthyosis where scales appear large and dark.^[4]

Genetics

Congenital ichthyosiform erythroderma 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 the disease.

There are several genetic faults which can produce Congenital ichthyosiform erythroderma. Known genes involved include TGM1, ALOX12B, ALOXE3, NIPAL4, ABCA12, CYP4F22, LIPN, CERS3, PNPLA1, ST14, and CASP14.^[5]

Diagnosis

Diagnosis of this condition is done via:

• Sequencing of genes – TG1, ALOXE3, ALOX12B, NIPAL4, CYP4F2, CERS3, LIPN, etc.
• Measuring in situ TG1 activity in cryostat section
• Electron microscopy – cholesterol clefts in stratum corneum

See also

• Ichthyosis
• Lamellar ichthyosis
• Collodion baby
• List of cutaneous conditions

External links

• GeneReviews/NCBI/NIH/UW entry on Autosomal Recessive Congenital Ichthyosis

Notes and References

1. Book: Freedberg, Irwin M . Fitzpatrick's Dermatology in General Medicine . Fitzpatrick . Thomas B . 2003 . McGraw-Hill . 0-07-138076-0 . 6th . vanc.
2. 6 . Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H . October 2010 . Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009 . Journal of the American Academy of Dermatology . 63 . 4 . 607–41 . 10.1016/j.jaad.2009.11.020 . 20643494 . free . 2263/15323.
3. 6 . Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF . March 2000 . Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity . American Journal of Human Genetics . 66 . 3 . 904–13 . 10.1086/302814 . 1288171 . 10712205.
4. 6 . Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR . February 2009 . Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA . Journal of Medical Genetics . 46 . 2 . 103–11 . 10.1136/jmg.2008.060905 . 3044481 . 18948357.
5. 6 . Oji V, Preil ML, Kleinow B, Wehr G, Fischer J, Hennies HC, Hausser I, Breitkreutz D, Aufenvenne K, Stieler K, Tantcheva-Poór I, Weidinger S, Emmert S, Hamm H, Perusquia-Ortiz AM, Zaraeva I, Diem A, Giehl K, Fölster-Holst R, Kiekbusch K, Höger P, Ott H, Traupe H . October 2017 . S1 guidelines for the diagnosis and treatment of ichthyoses - update . Journal of the German Society of Dermatology . 15 . 10 . 1053–1065 . 10.1111/ddg.13340 . 28976107 . 27585177.