Congenital ichthyosiform erythroderma (CIE), also known as nonbullous congenital ichthyosiform erythroderma, is a rare type of the

ichthyosis Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominan ...

family of skin diseases which occurs in 1 in 200,000 to 300,000 births. CIE comes under the umbrella term autosomal recessive congenital ichthyosis (ARCI), which include non-syndromic congenital ichthyoses such as harlequin ichthyosis and

lamellar ichthyosis Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. Presentation Affected babies are born in a collodion membrane, a shiny, waxy- ...

Symptoms and signs

Infants are often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with

ectropion Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable aspects of newborns exhibiting congenital Harlequin-type ichthyosis, but ectropion can occur due to any weakening of tissue of the lower eyelid. ...

, 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 Hyperkeratosis is thickening of the stratum corneum (the outermost layer of the epidermis, or skin), often associated with the presence of an abnormal quantity of keratin,Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) ''Robbins & Cotran Patholo ...

, a thickening of the layer of dead skin cells on the surface of the skin forming scales. Eclabium (eversion of the lips),

and

alopecia Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scar ...

(hair loss) are more common in CIE than in

(LI). CIE can present very similarly to LI and they often share characteristics, though the two conditions can often be differentiated by the appearance of the scales. Scales on patients with CIE are fine and white on skin with erythema while appear larger and greyer on the limbs, compared to LI where scales appear large and dark.

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 genes involved include ''

TGM1 Protein-glutamine gamma-glutamyltransferase K is a transglutaminase enzyme that in humans is encoded by the ''TGM1'' gene. Function Keratinocyte transglutaminase enzymes serve to specifically catalyze the development of the cornified cell env ...

'', ''

ALOX12B Arachidonate 12-lipoxygenase, 12R type, also known as ALOX12B, 12''R''-LOX, and arachidonate lipoxygenase 3, is a lipoxygenase-type enzyme composed of 701 amino acids and encoded by the ''ALOX12B'' gene. The gene is located on chromosome 17 at po ...

'', ''

ALOXE3 Epidermis-type lipoxygenase 3 (ALOXE3 or eLOX3) is a member of the lipoxygenase family of enzymes; in humans, it is encoded by the ''ALOXE3'' gene. This gene is located on chromosome 17 at position 13.1 where it forms a cluster with two other lipo ...

'', ''NIPAL4'', ''ABCA12'', ''CYP4F22'', ''LIPN'', ''CERS3'', ''PNPLA1'', ''ST14'', and ''CASP14''.

Diagnosis

Diagnosis of this condition is done via: *Sequencing of genes- TG1,ALOXE3, ALOX12B, NIPAL4,CYP4F2, CERS3, LIPN etc.. *Measuring insitu TG1 activity in cryostat section *electron microscopy- cholesterol clefts in stratum corneum

Treatment

References

External links