Eclabium

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Eclabium means the turning outwards of the lip. Eclabium comes from the Greek word "ek" meaning "out," and the Latin word "labium"[citation needed] meaning "lip." This deformation occurs in most babies born with harlequin type ichthyosis,[citation needed] caused by genetic defects.[citation needed] Eclabium can severely impact the quality of life. There are ways to predict if a child will have this condition before they are born through genetic testing.[1] For patients who suffer from eclabium due to improper wound healing, there are different treatment options available to restore the lips back to normal or at least to the point where they are not a hazard to the patients quality of life. Periodontitis can also cause eclabium. As eclabium is a symptom, it is treated by addressing its cause. When the underlying disease is treated, the eclabium tends to go away as well.

It is commonly classified as a congenital malformation (birth defect)[citation needed] however it can also result from improper healing of a wound.[citation needed]

Causes

Harlequin ichthyosis

Causes of eclabium include but are not limited to

Mechanisms

Disease causing variants in adenosine triphosphate binding cassette transporter protein (A12 gene)[3] on chromosome 2 carries information for lipid transportation to keratinocytes[citation needed] in the cutaneous layer.[citation needed] The malfunction of this gene causes scaly tight skin. The tightening of the skin pulls the eyes and lips back causing eclabium and ectropion. This disease has a Rare autosomal recessive mode of inheritance.[citation needed]

At times the skin does not heal properly after surgery or a wound. Improper healing of a wound on or near the lips can cause eclabium. All wounds heal[citation needed] in 3 parts: contraction, connective tissue matrix deposition and epithelialization. If any one of those parts is disrupted, it can become a cause of eclabium

True homozygous versus compound heterozygous for the ABCA 12 gene.

Signs and symptoms

Diseases that cause eclabium have the following signs and symptoms

  • Tight scaly skin [4](Ichthyosis)
  • Absence of ABCA12 gene[citation needed] (Ichthyosis)
  • Swollen or puffy gums (Periodontitis/Gingivitis)
  • Purulent drainage from lips[5] (Improper Wound healing)
  • Wide mouth which causes difficulty feeding and suckling
  • Difficulty in feeding causes lack of adequate nutrition, dehydration[citation needed] and even death
  • Skin that is more prone to infection
  • Hindered pulmonary ventilation Hindered pulmonary ventilation[citation needed]

Diagnosis

Eclabium is very clearly visible and a medical professional can identify it easily. In some cases it can be diagnosed beforehand. For example, when there has been a surgery[citation needed] by the lip or gums, abnormal healing can be very likely. When the tissue does not heal properly it can result in the outward turning of the lip.

Also, If a mother tests positive for a mutation in the ABCA12 gene,[6] eclabium as a result of Ichthyosis can be present in the child. Ichthyosis is characterized by tight scaly skin along with ectropion[citation needed] which is outward turning of eyelids. If the skin is tight enough to be pulling on the eyes then it is safe to diagnose that the tight skin is also pulling on the lips making them turn outward

If a patient is diagnosed with periodontitis[citation needed] it can cause swelling of the gums which in turn causes the outward turning of the lip.

Prevention

To prevent eclabium, testing for the mutation for ABCA12 gene can be done on the mother to see if the unborn child has the gene. This allows the parents to make a decision accordingly because most children with ABCA12 gene mutation[6] will have eclabium.

Healing of wounds near lips or gums should be carefully monitored to prevent severe eclabium. If the improper healing [citation needed] is caught at the right time it can become imperative to prevent the eclabium as soon as possible.

Basic dental hygiene[citation needed] can help prevent periodontitis. Basic dental hygiene includes brushing and flossing as well as regular dentist visits. If periodontitis is prevented, it reduces the chances of eclabium caused by poor dental hygiene.

Treatment

Chlorhexidine for treating Periodontitis

To reduce the tightness and dehydration of the skin, Lubricant ointment[citation needed] has been used. When the skin becomes less tense, it doesn't pull at the lips as much causing a reduction in the eclabium. Once the skin is loose enough the eclabium subsides. Eclabium can be a lifelong disorder, but drug treatment for the causing disease would heal the lips as well. For example for harlequin ichthyosis drugs such as Tazarotene[citation needed] and isotretinoin [citation needed] have been used to help the skin heal and loosen up which helps the eclabium heal. But sometimes surgery might become necessary to correct the disorder. Lateral columella base-labrum transposition flap [citation needed] results in soft linear scars without hyperplasia.[citation needed] It is an easy, minimally invasive and nearly no secondary malformation method. a type of flap used is the Limberg/Rhomboid flap.[citation needed] The flap is made up of Cutaneous tissue[citation needed] to close defects anywhere on the body.

If the eclabium is caused by periodontitis,[citation needed] treatment includes removal of plaque and calculus from the teeth, antimicrobial mouth rinse such as chlorhexidine,[7] antiseptic chips/gels. When the swelling in the gums reduces it will no longer push on lips making them turn outwards.

Prognosis and Epidemiology

Research

References

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