eclabium

It is commonly classified as a congenital malformation (birth defect){{cn|date=February 2021}} however it can also result from improper healing of a wound.{{cn|date=February 2021}}

File:Harlequin ichthyosis.pngCauses of eclabium include but are not limited to

• General Ichthyosis.{{cite journal |last1=Salehin |first1=Shahrbanoo |last2=Azizimoghadam |first2=Ahmad |last3=Abdollahimohammad |first3=Abdolghani |last4=Babaeipour-Divshali |first4=Mohammad |title=Harlequin ichthyosis: Case report |journal=Journal of Research in Medical Sciences |pages=1004–1005 |date=November 2013|volume=18 |issue=11 |pmid=24520234 |pmc=3906774 }}
• Congenital ichthyosis{{cn|date=February 2021}}
• Lamellar ichthyosis{{cn|date=February 2021}}
• Harlequin type Ichthyosis{{cn|date=February 2021}}
• Scarring after trauma, such as surgery
• Gingivitis/periodontitis{{cn|date=February 2021}}File:Periodontitis Crónica Severa.JPG

Disease causing variants in adenosine triphosphate binding cassette transporter protein (A12 gene){{cite journal |last1=kelsell |first1=David |title=Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis |journal=Am J Hum Genet|date=May 2005 |volume=76 |issue=5 |pages=794–803|doi=10.1086/429844 |pmid=15756637 |pmc=1199369 }} on chromosome 2 carries information for lipid transportation to keratinocytes{{cn|date=February 2021}} in the cutaneous layer.{{cn|date=February 2021}} 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.{{cn|date=February 2021}}

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{{cn|date=February 2021}} 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

File:True homozygous versus compound heterozygous.png

Diseases that cause eclabium have the following signs and symptoms

• Tight scaly skin {{cite journal|last1=Craiglow|first1=Brittany G.|date=1 February 2013|title=Ichthyosis in the newborn|journal=Seminars in Perinatology|volume=37|issue=1|pages=26–31|doi=10.1053/j.semperi.2012.11.001|pmid=23419760|pmc=3758581}}(Ichthyosis)
• Absence of ABCA12 gene{{cn|date=February 2021}} (Ichthyosis)
• Swollen or puffy gums (Periodontitis/Gingivitis)
• Purulent drainage from lips{{cite journal|last1=Pippi|first1=Roberto|date=2017|title=Post-Surgical Clinical Monitoring of Soft Tissue Wound Healing in Periodontal and Implant Surgery|journal=International Journal of Medical Sciences|volume=14|issue=8|pages=721–728|doi=10.7150/ijms.19727|pmid=28824306|pmc=5562125|doi-access=free}} (Improper Wound healing)
• Wide mouth which causes difficulty feeding and suckling
• Difficulty in feeding causes lack of adequate nutrition, dehydration{{cn|date=February 2021}} and even death
• Skin that is more prone to infection
• Hindered pulmonary ventilation Hindered pulmonary ventilation{{cn|date=February 2021}}

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{{cn|date=February 2021}} 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,{{Cite journal|last1=Thomas|first1=Anna C.|last2=Cullup|first2=Tom|last3=Norgett|first3=Elizabeth E.|last4=Hill|first4=Tara|last5=Barton|first5=Stephanie|last6=Dale|first6=Beverly A.|last7=Sprecher|first7=Eli|last8=Sheridan|first8=Eamonn|last9=Taylor|first9=Aileen E.|last10=Wilroy|first10=Robert S.|last11=DeLozier|first11=Celia|title=ABCA12 is the major harlequin ichthyosis gene|journal=The Journal of Investigative Dermatology|year=2006|volume=126|issue=11|pages=2408–2413|doi=10.1038/sj.jid.5700455|issn=1523-1747|pmid=16902423|doi-access=free}} eclabium as a result of Ichthyosis can be present in the child. Ichthyosis is characterized by tight scaly skin along with ectropion{{cn|date=February 2021}} 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{{cn|date=February 2021}} it can cause swelling of the gums which in turn causes the outward turning of the lip.

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 will have eclabium.

Healing of wounds near lips or gums should be carefully monitored to prevent severe eclabium. If the improper healing {{cn|date=February 2021}} is caught at the right time it can become imperative to prevent the eclabium as soon as possible.

Basic dental hygiene{{cn|date=February 2021}} 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.

File:Perichlor, 0.12% chlorhexidine glucomate solution medication.jpg

To reduce the tightness and dehydration of the skin, Lubricant ointment{{cn|date=February 2021}} 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{{cn|date=February 2021}} and isotretinoin {{cn|date=February 2021}} 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 {{cn|date=February 2021}} results in soft linear scars without hyperplasia.{{cn|date=February 2021}} It is an easy, minimally invasive and nearly no secondary malformation method. a type of flap used is the Limberg/Rhomboid flap.{{cn|date=February 2021}} The flap is made up of Cutaneous tissue{{cn|date=February 2021}} to close defects anywhere on the body.

If the eclabium is caused by periodontitis,{{cn|date=February 2021}} treatment includes removal of plaque and calculus from the teeth, antimicrobial mouth rinse such as chlorhexidine,{{Cite journal|last1=Brookes|first1=Zoë L.S.|last2=Bescos|first2=Raul|last3=Belfield|first3=Louise A.|last4=Ali|first4=Kamran|last5=Roberts|first5=Anthony|title=Current uses of chlorhexidine for management of oral disease: a narrative review|journal=Journal of Dentistry|year=2020|volume=103|pages=103497|doi=10.1016/j.jdent.2020.103497|issn=0300-5712|pmc=7567658|pmid=33075450}} antiseptic chips/gels. When the swelling in the gums reduces it will no longer push on lips making them turn outwards.

Unfortunately, most conditions that cause eclabium, such as ichthyosis, have a very high mortality rate with worldwide figure approaching 50 percent. However, eclabium caused by improper wound healing is usually reversible through another corrective surgery and has little to no mortality.

Scarring can occur from surgery to correct eclabium. Some patients might get further cosmetic surgery{{cn|date=February 2021}} to fix the scarring.

Eclabium caused by Periodontitis is almost always treatable and if it has advanced severely, surgery can help to treat it. It does not cause death but it can become very painful and decrease the quality of life if left untreated. It can affect anyone who does not follow good oral hygiene. It currently affects 20-50% of the global population{{Cite journal|last=Nazir|first=Muhammad Ashraf|date=2017|title=Prevalence of periodontal disease, its association with systemic diseases and prevention|journal=International Journal of Health Sciences|volume=11|issue=2|pages=72–80|issn=1658-3639|pmc=5426403|pmid=28539867}} but only a small portion of cases become severe enough to cause eclabium.

Eclabium caused by harlequin ichthyosis is more severe. Its prognosis is very poor.{{Cite journal|last1=Shruthi|first1=Belide|last2=Nilgar|first2=B.R.|last3=Dalal|first3=Anita|last4=Limbani|first4=Nehaben|date=2017-06-01|title=Harlequin ichthyosis: A rare case|url=http://cms.galenos.com.tr/Uploads/Article_15868/138-140.pdf|journal=Journal of Turkish Society of Obstetric and Gynecology|volume=14|issue=2|pages=138–140|doi=10.4274/tjod.63004|pmc=5558415|pmid=28913151}} Most affected babies do not survive the first week of life. Survival rates based on the severity of the case have varied from 10 months to 25 years with supportive treatment. The oldest person in the united states with Harlequin Ichthyosis is 23 year old Stephanie Turner.{{Cite web|title=Harlequin Ichthyosis – A Case Report – Irish Medical Journal|url=https://imj.ie/harlequin-ichthyosis-a-case-report/|access-date=2020-12-16|language=en-US}} She was also the first person to have a child with this condition. She has two children and neither have the condition. There is a 25% chance of this condition reoccurring in the mothers next pregnancy. Genetic counseling{{cn|date=February 2021}} is highly recommended for couples who have the mutated ABCA12 gene.{{cn|date=February 2021}}

A research study conducted in 2019 on a pregnant couple with a child that has Harlequin Ichthyosis{{cn|date=February 2021}} talked about characteristic sonographic features. Eclabium and ectropion{{cn|date=February 2021}} can be seen in the ultrasound. The mouth is persistently open and restriction of limb movement is also seen.{{Cite journal|last1=Brandão|first1=Pedro|last2=Seco|first2=Sandra|last3=Loureiro|first3=Teresa|last4=Ramalho|first4=Carla|date=2019|title=Prenatal sonographic diagnosis of Harlequin ichthyosis|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/jcu.22675|journal=Journal of Clinical Ultrasound|language=en|volume=47|issue=4|pages=228–231|doi=10.1002/jcu.22675|pmid=30508257|s2cid=54521900|issn=1097-0096|url-access=subscription}}

Another Research was inducted on the use of retinoids{{cn|date=February 2021}} and whether or not they are the only way to treat Harlequin Ichthyosis.{{cn|date=February 2021}} The research titled survival without systemic retinoids mentions how the chances of survival are very low regardless of retinoid treatment. According to this study two neonates were able to survive with intensive care but no retinoids.{{Cite journal|last1=Sharma|first1=Amit|last2=Rozzelle|first2=Arlene|last3=Jahnke|first3=Marla N.|last4=Desai|first4=Jagdish|last5=Shwayder|first5=Tor A.|last6=Kisseih|first6=Esther|last7=Bryant|first7=Justin R.|last8=Agarwal|first8=Prashant|date=2019|title=ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids|url=https://onlinelibrary.wiley.com/doi/abs/10.1111/pde.13770|journal=Pediatric Dermatology|language=en|volume=36|issue=3|pages=339–341|doi=10.1111/pde.13770|pmid=30809833|s2cid=73468533|issn=1525-1470|url-access=subscription}}

Further research on the types of Ichthyosis and receiving genetic counseling{{cn|date=February 2021}} for the condition is still being reviewed. The importance of neonatologist,{{cn|date=February 2021}} a pediatric dermatologist,{{cn|date=February 2021}} a geneticist {{cn|date=February 2021}} and other specialists is discussed in this study. Their involvement can help better the treatment plan for Harlequin Ichthyosis patients and help ease symptoms such as eclabium.{{Cite journal|last1=Pinkova|first1=Blanka|last2=Buckova|first2=Hana|last3=Borska|first3=Romana|last4=Fajkusova|first4=Lenka|date=2020-12-14|title=Types of congenital nonsyndromic ichthyoses|journal=Biomedical Papers|volume=164|issue=4|pages=357–365|doi=10.5507/bp.2020.050|pmid=33087941|doi-access=free}}

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Category:Lip disorders

Category:Lip disorders