Skin Disorder – Lamellar Ichthyosis
Ichthyosis refers to a family ofgenetic illnesses, which are characterized by scaling, dry andthickened skin. The phrase ichthyosis is borrowed from the Greek word“Ichthy,” which refers to fish. This is because the thickenedskin at times resembles fish scales. Lamellar Ichthyosis is one ofthe many types of these genetic illnesses. Although skin cells aremanufactured normally in lamellar ichthyosis, they fail to detach asexpected in the outer skin layer, which means they are not shed inthe pace they should. This results in a building up of scales. Thewhole body becomes covered with wide, dark scales that resembleplates that are divided by deep cracks (Foundationfor Ichthyosis & Related Skin Types, FIRST3).
There are conflicting findingsconcerning the frequency of the disease. According to the Foundationfor Ichthyosis & Related Skin Types(3) it occurs in close to 1 in every 300,000 births. On the otherhand, the NationalLibrary of Medicine, NLM(1) states that the disease affects 1 in every 100,000 people inAmerica. NLM alsonotes that lamellar ichthyosis is widespread in Norway, where itaffects 1 in every 91,000 people. The NationalOrganization for Rare Disorders, NORD(1) notes that it occurs in less 1 in 200,000 individuals. However,the researchers agree that the skin condition is rare. It affectsmales and females equally and is more common in consanguineoussocieties (Briley and Rozenberg 1).
Lamellar ichthyosis is inherited.Gene mutations are passed to the child from either or both parents.At times, the parents might not have the illness yet have geneticmutations (NationalInstitute of Arthritis and Musculoskeletal and Skin Diseases,NIAMS1). The mutations affect a number of genes. These are the genesresponsible for the “gene encoding of the epidermal enzyme:Transglutaminase 1 and two genes encoding two distinct but relatedenzymes, 12 (R)-lipoxygenase and lipoxygenase- 3 (NORD1).” Transglutaminase 1 is an enzyme significant in the crosslinkage of epidermal proteins when the outermost layer of the skin isbeing formed and maturing.
Skin abnormalities that causelamellar ichthyosis stop the epidermis from forming normally leadingto impaired body temperature regulation, inability to retain water orresist infections. Mutations that happen to the Transglutaminase 1gene are accountable for close to 90% of incidences of the illness(NLM1). Mutations in the other gene linked to lamellar ichthyosis areaccountable for merely a small percent of the disease’s incidence.It is inherited through an “autosomal recessive pattern” meaningthe gene copies from every cell have mutations (NLM1). Parents of children with the condition carry a copy of the genemutation, although they do not depict signs or symptoms.
The common signs are redness, dryskin that is scaly, excess shedding of skin and blistering, while thesymptoms are pain, itchiness and overheating. Lamellar ichthyosis isevident at birth. Children born with the illness are referred to“collodion babies (NORD1).” This is becausethey are usually covered in a clear membrane, collodion. At times,the membrane is regarded to as a shellacked appearance and it shedsoff 10 to 14 days after birth revealing general scaling that makesthe affected newborns skin look dark, split, red and tight (Medscape1). In most cases the eyelids as well as lips are forced to remainopen due to the tight skin. Also, contractures may form aroundfingers. Issues such as loss of water, inability to regulate bodytemperature, systemic and secondary infections might occur innewborns that have lamellar ichthyosis (NORD1).
The image shows a baby with thecollodion membrane (Medscape1).
Individuals with the conditionhave difficulty shutting their eyes completely due to skin tighteningin the eyes and eyelids region. In severe cases, the skin might pulltightly, in the process causing the eyelids to turn outward. Thisexposes the interior red lid and results in permanent irritation, acondition referred to as ectropion (NORD1). When ectropion is not treated, it could cause further damage tothe cornea resulting in impaired vision. Persons with lamellarichthyosis might as well have nails that have thickened and hair lossbecause of the thick scales that form on the scalp. In addition, isreddened skin, thickening of skin around the feet soles and palms andreduced sweating leading to heat intolerance (Rodriguez-Pazos et al.271).
The image shows thickened skin andhair loss (Rodriguez-Pazos et al. 272).
The scales can either be fine,platelike or white and thick (Medscape1). They are organized in a mosaic sequence, which resembles the skinof fish. In addition, they appear bigger in body parts such as legs,while they are raised and attached centrally. Lesions are evident inthe whole body, but are in larger numbers in flexural body parts likethe neck, groin, fossa and axilla (Medscape1).
The image depicts white and thickscales in the hands of an individual with lamellar ichthyosis(Medscape1).
There are many types ofichthyoses. The common signs and symptoms may make it difficult todifferentiate lamellar ichthyosis from the other types. However, theillness is differentiated by the “self-healing collodion baby,epidermolytic hyperkeratosis, X-linked ichthyosis, Sjorgen-Larssensyndrome, congenital ichthyosiform erythroderma, Comel Netherton’ssyndrome and trichothiodystrophy (Briley and Rozenberg 1).” Duringthe neonatal stage lamellar ichthyosis overlaps with differentichthyoses, which appear as a collodion baby. But, as the childbecomes older, the condition is differentiated from others based oclinical findings as well as history.
Complications and Prognosis
Normally, people born with thecondition have a normal life expectancy. However, it might not alwaysbe the case, because in some people, lamellar ichthyosis causesimpaired growth because of the “defective skin permeability barrierwith increased chronic losses of water and calories (Briley andRozenberg 1).” The scales, which tightly stick together, compressand block sweat ducts resulting in inability to tolerate heat. Thisfurther causes caloric use and water loss. In addition, excessivebuild up of tight scales in body parts, like the exterior ear canal,expose those with the condition to bacterial colonization andrecurring infections.
More complications apparent inpeople with lamellar ichthyosis are “scarring alopecia occurring atthe periphery of the scalp, secondary nail dystrophy with thickenednail plates and ridging due to chronic inflammation of the nailfolds, and palmoplantar keratoderma (Briley and Rozenberg 1).”Nevertheless, ectropion is the most troublesome complicationassociated with the illness. The complication is likely to result incorneal ulceration and scarring, vascularization and blindness whentreatment is delayed (Briley and Rozenberg 1).
There is no cure for thecondition. Hence, treatment is aimed at making it possible for theindividual affected to manage the signs and symptoms. It includesapplying ointments, creams and lotions to the body to relievedryness. Scaling can be eased by bathing for long in salty water orusing preparations that contain urea or salicylic acid (NIAMS2).
According to Briley and Rozenberg(1) moisturizers is the main form of treatment for affected childrenin the neonatal stage and all through life. Moisturizers enhance thesuppleness of the body’s outer skin layer, in addition to hydratingand restoring the barrier function of the epidermal and assist incovering and removing scale. For infants, apart from moisturization,it is advisable to monitor their bodies to ensure body temperature,electrolyte and fluid imbalances are regulated. Infants needophthalmology to manage ectropion as well as otorhinolaryngology toexternally clean the years and test auditory.
When a child born with thecondition is older than one year, the scales may be mechanicallyremoved using microfiber cloths and urea. Urea is effective inbinding water and easing the regeneration of the epidermal’sbarrier with extra keratolytic as well as antimicrobial effects. Onthe other hand, salicylic acid, which is also a keratolytic iscontraindicated in young children because of enhanced systemicretention and possibility of metabolic acidosis.
The main topical therapy forgrownups and older children is using moisturizers and keratolytics.At this stage, the affected can use salicylic acid “for localizedrefractory areas (Briley and Rozenberg 1).” Alternatively, sickpersons can use topical calcipotriene and retinoids, which have beensuccessfully used and resulted in minimal systemic absorption (Brileyand Rozenberg 1).
A different type of treatment issystemic therapy. It is achieved by using oral retinoids thateffectively treat the non-bullous ichthyoses, in specific lamellarichthyosis. It is important to note that retinoids have a majorimpact on epidermal differentiation. When treating the condition,retinoids are effective in speeding epidermal turnover and thinningthe stratum corneum. Emerging therapy using retinoid acid has beeneffective in treating lamellar ichthyosis and has minimal sideeffects.
Surgical correction can be used insevere case of the illness, especially in correcting ectropion. Thedisadvantage with surgery is that it may have to be performed againyears later (Rodriguez-Pazos et al. 278). Sick persons are cautionedagainst involvement in strenuous activities, specifically whentemperatures are high. This is because the condition enhances thepossibility of heat stroke. To reduce flexion contracture,physiotherapy is employed (Rodriguez-Pazos et al. 278).
Research to Improve Treatment
Research on lamellar ichthyosisfocuses on improved comprehension of what causes the disease andcoming up with treatments that can cure it. Scientists obtaininformation about lamellar ichthyosis from sick persons, which theyuse to study the illness and work on new treatments.
The genes that cause ichthyosishave been noted. But, further studies on the genes are underway aimedat finding ways to control these genes and stop the illness (NIAMS2). It is anticipated that in prospect gene therapy will be used intreating the condition. Scientists are also working on developingpharmaceutical treatments, which comprise of advent emollients tosoften the epidermis and make it possible to retain moisture.Additionally, scientists are developing new types of topicalkeratolytics for softening the keratin that is the main structuralmaterial of the epidermis (NIAMS2).
Briley, James J and Rozenberg,Suzanne S. Diagnosis: Lamellar Ichthyosis. TheDermatologist 16.10(2008): 1-1.
Foundation for Ichthyosis &Related Skin Types, FIRST.Ichthyosis Summary, n.d. Web. 5 May 2016. <file:///C:/Users/Lenovo/Downloads/Ichthyosis%20Summary.pdf>
Medscape.Lamellar Ichthyosis, 22 Sept. 2014. Web. 5 May 2016.
National Institute of Arthritisand Musculoskeletal and Skin Diseases, NIAMS.Ichthyosis Overview, Dec. 2012. Web. 5 May 2016.
National Library of Medicine,NLM. LamellarIchthyosis, 2016. Web. 5 May 2016.
National Organization for RareDisorders, NORD.Ichthyosis, Lamellar, 2015. Web. 5 May, 2016. <http://rarediseases.org/rare-diseases/ichthyosis-lamellar/>
Rodriguez-Pazos, L., Ginarte, M.,Vega, A & Toribio, J. Autosomal Recessive Congenital Ichthyosis.ACTASDermo-Sifiliograficas104.4 (2013): 270-284.