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Congenital Ichthyosiform Erythroderma (CIE)

Last updated Aug. 14, 2018

Approved by: Maulik P. Purohit MD, MPH

Congenital Ichthyosiform Erythroderma (CIE) is an uncommon, inherited skin disorder of the Ichthyosis family (a group of genetic skin conditions), that normally presents itself right from birth.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Alligator Skin
  • Erythrodermia Ichthyosiformis Congitalis Non-Bullosa
  • Non-Bullous CIE (n-CIE)

What is Congenital Ichthyosiform Erythroderma? (Definition/Background Information)

  • Congenital Ichthyosiform Erythroderma (CIE) is an uncommon, inherited skin disorder of the Ichthyosis family (a group of genetic skin conditions), that normally presents itself right from birth
  • Babies born with Congenital Ichthyosiform Erythroderma have scaly and dry skin. In babies with the condition, there is usually a tight and glassy membrane sheath covering the skin surface, which gets shed a few weeks after birth giving rise to a red skin-like (erythema) appearance with fine white scales
  • There may be other visible characteristics, such as flared-out lips and eyelids, abnormal nail and hair growth, hard callus-like skin surface on soles of the feet and palms of the hands
  • Ichthyosis, in general, is of many different types. Some types are congenital and others are acquired. Ichthyosis can also be present as an acquired symptom in other disorders
  • There are 5 different types of inherited Ichthyosis disorders that include the following:
    • Ichthyosis Vulgaris; it is the most common form of Ichthyosis
    • Lamellar Ichthyosis, Type 1 to Type 5
    • Epidermolytic Hyperkeratosis (or Bullous Ichthyosis)
    • Congenital Ichthyosiform Erythroderma
    • X-Linked Recessive Ichthyosis
  • Congenital Ichthyosiform Erythroderma has usually milder signs and symptoms compared to other types of inherited Ichthyosis. CIE is treated symptomatically with topical skin creams. Often, lifelong treatment is necessary for this incurable skin condition

Who gets Congenital Ichthyosiform Erythroderma? (Age and Sex Distribution)

  • Congenital Ichthyosiform Erythroderma is an autosomal recessive disorder, implying that the abnormal genes have to be present in both the parents for the condition to develop in their offspring
  • The general incidence of this inherited abnormality is between 1:100,000 to 1:300,000 making it an uncommon condition
  • However, CIE has been observed with a much higher incidence, among the Norwegians 

What are the Risk Factors for Congenital Ichthyosiform Erythroderma? (Predisposing Factors)

Risk factors for Congenital Ichthyosiform Erythroderma include:

  • Genetic factors: If both the parents are carriers of the gene, which causes the disorder; then, there is a 1 in 4 chance that their children may inherit the condition
  • Racial predilection: People from Norway are more often affected, than people from any other geographical region/location

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Ichthyosiform Erythroderma? (Etiology)

  • The information and instructions provided by 3 genes are mainly responsible for the development of the epidermis. Epidermis (skin) is the protective external barrier on the human body
  • Abnormal mutations of these genes disrupt the production of certain vital proteins, which form a significant part of the epidermis. This leads to the development of Congenital Ichthyosiform Erythroderma skin condition
  • In other words, CIE is caused due to mutation in gene for proteins called transglutaminase, 12R lipoxygenase, or lipoxygenase 3. Occasionally, the mutation can be found in multiple genes. The commonly affected genes are ALOX 12B and ALOXE3 genes
  • Congenital Ichthyosiform Erythroderma is inherited in an autosomal recessive manner, meaning that a child needs to inherit the genetic defect from both parents to develop the disorder. If the genes are transmitted from only one parent, the child will only be a carrier of the disorder, without any signs or symptoms
  • Not all cases of Congenital Ichthyosiform Erythroderma are due to chromosomal abnormalities that lead to a deficient body production of the protein; in some individuals, CIE is known to develop spontaneously and the cause is unknown
  • Congenital Ichthyosiform Erythroderma is not a contagious condition. CIE is caused by a genetic defect, and it cannot be passed on from one individual to another through direct contact

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Congenital Ichthyosiform Erythroderma?

A classical sign of Congenital Ichthyosiform Erythroderma is the glazed skin appearance, presented with superficial scales. Almost all children show this characteristic feature at birth. A few weeks after birth, the tight and waxy outer skin is shed revealing a tender, red skin with white scales. This membrane is shed within 2 weeks of birth.

Other signs and symptoms that may be present include:

  • Babies have a tight covering on skin, which is called collodion membrane
  • Presence of thickened skin covering around the joints, and on the hand palms and foot soles
  • The lips and eyelids appear outwardly turned. Outward turned lower eyelids (called persistent ectropion), which remains in later part of life
  • Eye-related defects such as conjunctiva, eyelid and retinal abnormalities
  • Thickened skin of sole and palms (called keratoderma)
  • Nails may look normal, but their growth may not be normal. Defective nail growth called nail dystrophy
  • Hair density may be very less due to scalp condition; the child’s hair may appear abnormal. Baldness due to scaring called scarring alopecia
  • Frequent infection due to poor immune system; frequent lung infections
  • Inability to maintain proper hydration resulting in frequent dehydration

Note:

  • Many types of Ichthyosis are caused by genetic defects. The signs and symptoms due to a particular genetic defect may vary significantly. This is called variable expression of a genetic defect
  • Some types of Ichthyosis may be associated with other diseases such as testicular cancer, sterility in men, malignancy of various parts of the body, heart defects, deafness, hair loss, mental retardation etc.

How is Congenital Ichthyosiform Erythroderma Diagnosed?

It is important to determine the type of Ichthyosis. Many different modalities of testing are used to determine the type of Ichthyosis. However, an accurate diagnosis may not be always possible.

Some of the diagnostic steps for Congenital Ichthyosiform Erythroderma may include:

  • Physical exam and family medical history: The physician or dermatologist may ask questions related to the individual’s family medical history (presence of any known case of CIE in the family). However, the condition may be diagnosed with a simple physical examination
  • Complete blood count (CBC)
  • Examination of peripheral blood smear under a microscope by a pathologist
  • Genetic testing of a blood sample for specific types of mutations can help confirm a diagnosis
  • Ultrasonography may also show excess of amniotic fluid (polyhydramnios), in case of CIE
  • Skin biopsy (of the affected skin area) is performed and sent to a laboratory for a pathological examination, who examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
  • Fetal skin biopsy at 19 week gestation will help in diagnosing Congenital Ichthyosiform Erythroderma
  • Bone marrow biopsy in individuals where underlying leukemia is the suspected cause of Ichthyosis

Note: Some experts consider Congenital Ichthyosiform Erythroderma to be a milder case of Lamellar Ichthyosis.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Ichthyosiform Erythroderma?

Complications associated with Congenital Ichthyosiform Erythroderma may include:

  • Developmental abnormalities; stunted growth leading to small stature
  • Mental health defects
  • Eye-related defects, dryness of the eyes
  • Early-stage respiratory ailments
  • Increased intolerance to infections, due to reduced skin function. Infections of the skin requiring frequent medical attention
  • Increased intolerance to sun or other heat source(s)
  • Fluid loss from the skin leading to dehydration, which is mainly noticed in children; dehydration requiring frequent fluid intake/replenishment
  • Chronic blistering that may get secondarily infected
  • Heat intolerance: Skin is a very important organ to maintain the body temperature. Individuals with Ichthyosis have low heat tolerance of the body, resulting in overheating. This may result in heat strokes, which can be a dangerous condition
  • Individuals with Ichthyosis may have significant psychological issues. Due to abnormal skin, these individuals may face social ostracism. This can result in children and adults having low self-esteem and depression

How is Congenital Ichthyosiform Erythroderma Treated?

Congenital Ichthyosiform Erythroderma is treated symptomatically. Special attention is paid to each individual’s specific condition and needs. There is no cure for the disorder and often a lifelong treatment course is essential.

  • Newborns and young infants have to be kept in an enclosed and controlled environment (during the initial stages), so as to avoid any infection
  • Petroleum-based creams and ointments are used on the skin to keep it soft, moist, and hydrated
  • Preparations based on urea and alpha-hydroxy acid may be used on slightly older children, to aid in skin softening, skin growth and regeneration
  • Moisturizing creams may be used for dry surface of skin in the affected areas. Reducing exposure can help in decreasing the dryness
  • Any skin application (including soap, cream, oil, or other cosmetics) that might even mildly aggravate the skin condition has to be avoided
  • The eyes have to be prevented from drying-up, particularly during sleeping. Prescription drops or balms may be recommended. Proper eye care for dry eyes through eye drops help in keeping the dry eye surface moisturized
  • Dermatologist’s consultation is very critical in the treatment of Congenital Ichthyosiform Erythroderma. An ophthalmologist’s consultation is very important for eye-related abnormalities
  • Antibiotic treatment may be prescribed for secondary skin infections
  • Lipid lowering medication may be helpful
  • Maintain good body hydration status
  • Surgical skin grafts for repair of large areas of severe dry skin
  • A social worker or a psychiatric consultation may be necessary for social issues related to excessive dry skin areas
  • Avoiding excessive heat situations, such as outdoor activities in hot sunny days
  • For very severe forms of CIE, vitamin A based derivatives have been proven to improve the condition. These are taken as oral medicines, called oral retinoid therapy. However, there may be side effects, and hence, this needs to be carefully monitored by the healthcare provider
  • Long term treatment of CIE is usually necessary in majority of cases

How can Congenital Ichthyosiform Erythroderma be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Congenital Ichthyosiform Erythroderma, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Congenital Ichthyosiform Erythroderma
  • Reducing exposure can help in decreasing skin dryness

What is the Prognosis of Congenital Ichthyosiform Erythroderma? (Outcomes/Resolutions)

  • Congenital Ichthyosiform Erythroderma is incurable; a lifetime of proper medical care and support is required
  • The skin appearance and other skin conditions may alter with time and age. Also, the outcome of the skin change is not predictable (i.e. whether there is an improvement or a deterioration)
  • Additional complications and secondary infections may continuously cause anxiety and concerns throughout life
  • Individuals with severe signs and symptoms have a worse prognosis compared to those with milder signs and symptoms

Additional and Relevant Useful Information for Congenital Ichthyosiform Erythroderma:

  • In an Ichthyosiform type disorder, the condition that affects the human body, is not limited to the skin alone, but affects other body functions and parts too, such as the brain and eyes
  • There are voluntary organizations and support groups that provide help and understanding to the individuals and parents of the CIE-affected

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: June 3, 2014
Last updated: Aug. 14, 2018