Issue: Volume 65-Issue 10-October 2019-ISSN 2640-5245
Index: Wound Management & Prevention 2019;65(10):12-16
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Introduction
Ichthyosis, or “fish-scale” disease, is a group of genetic disorders marked by abnormal epidermal differentiation or metabolism, resulting in hyperkeratosis. Scaling can be localized or generalized, mild or severe, isolated or associated, with additional cutaneous or systemic findings. The ichthyosiform dermatoses can be classified according to clinical manifestations, genetic inheritance, and histological findings. Many different types exist, with the majority presenting in the neonatal period. Neonatal presentation is invariably associated with markedly abnormal skin, leading to compromised barrier function, increased transepidermal water loss (TEWL), transcutaneous absorption, poor thermoregulation, electrolyte abnormalities, challenging nutrition status, and feared bacterial colonization and infections.1
Pathophysiology
X-linked ichthyosis results from a steroid (sulfatase) deficiency, with increased cholesterol accumulation on the epidermis along with hyperkeratosis and hyperscaling. Lamellar ichthyosis is due to a disturbance in the cornified cell envelope cross-linking, leading to a defective barrier with the collodion membrane. Harlequin ichthyosis is due to a truncation mutation with a defective intercellular lipid layer in the stratum corneum, as well as hyperkeratosis and deep skin fissures. Bullous congenital ichthyosiform erythroderma is due to defective keratin genes, leading to structural keratinocyte instability and blisters that break and eventually produce hyperkeratosis that looks like verrucous outgrowth.1,2
Presentation
Ichthyosis can be inherited as an autosomal recessive, dominant, or X-linked disorder. Collodion baby is a presentation of several forms of ichthyosis including lamellar, X-linked, and congenital ichthyosiform erythroderma and represents a phenotype of a premature baby born within a shiny, taut, cellophane-like membrane. Tight skin around eyes and mouth leads to ectropion (outturning of the eyelids) and eclabium (eversion of the lips) (see Figure 1). After birth, the membrane dries and fissures, leading to wounds, pain, and an underlying raw epidermis. A more severe form, harlequin ichthyosis, is a phenotype of a markedly thickened stratum corneum with armor-like plates (see Figure 1). As the outer epidermis breaks, deep painful fissures lead to dehydration, increased absorption of topical substances, bacterial colonization, and intolerance of handling. Ectropion and eclabium are present, along with underdeveloped ears, nose, hands, and feet. Many of these neonates have mitten-like deformities, leading to threatened loss of function and the need for plastic/orthopedic hand and feet reconstruction (see Figure 2). The initial release of tight/inflexible skin is necessary and requires cutting deep fissures between the digits, cutting the plates and freeing the phalanges. These procedures are not easy, because thickened and hardened skin is very challenging to cut and sedating these babies is difficult because intravenous access can be problematic (ie, it is difficult to secure and keep the intravenous catheter/central line from falling), and intubation is avoided for fear of mucosal injury/skin injury with adhering tape.
Challenges
Prematurity and its accompanying concerns are problematic, but skin complications in ichthyosis care heighten the challenges. Increased TEWL, thermoregulation, prolonged need for a heated isolate, electrolyte abnormalities, dehydration, inability to feed potentiated by extremely compromised access due to skin quality, and poor adhesiveness of securement devices leads to failure to thrive. Skin colonization and infections, especially with gram-positive organisms, are common and difficult to eradicate because the environment around these babies often is heated and humidified. Bathing can be challenging due to thermoregulation, increased absorption of substances, and skin trauma from holding and friction. Functional debilitation has to be anticipated and addressed and includes poor feeding with eclabium, vision deficits and corneal injury/drying with ectropium, and hand/foot deficits due to the mitten phenotype.
Skin Management
General care. Management demands a multidisciplinary approach, with skin barrier preservation as the cornerstone of care. Initial management focuses on use of a humidified, warmed isolette; avoiding frequent and prolonged bathing; minimizing skin punctures; and provision of a supportive surface to minimize friction, pressure, and sheer. Bland emollients are a must. Petrolatum or dimethicone-based products are applied every 4 to 6 hours, especially around breaks and fissures, to maximize skin flexibility and diminish TEWL. After the initial period of membrane drying, deep fissures and peeling can be loosely covered with petroleum-impregnated gauze and Kerlix as a secondary layer.1,2
Colonization with organisms. Many physicians initiate systemic antibiotics if concern for infection exists, but colonization without infection is common. My approach is to avoid toxic percutaneous substances such as silver and betadine. I frequently use dialkyl carbamoyl chloride- (DACC) coated gauze (Cutimed Sorbact; BSN medical Gmbh, Hamburg, Germany) to loosely wrap the affected areas. This product provides an excellent organism binder through hydrophobic interactions, removing undamaged quiescent bacteria without toxic systemic reaction or bacterial byproduct release. The gauze can be wrapped individually around fingers and toes, offering protection from both friction and infection. Occlusive 3% bismuth-impregnated gauze (Xeroform; Cardinal Health, Dublin, OH) is another antimicrobial dressing that provides comfort and lubrication.
Fissures. Deep fissuring often leads to exudate and wound development. PolyMem (Ferris Corp, Fort Worth, TX) is a nonadhesive hydrophilic polyurethane foam/pad that offers a comfortable alternative for these patients. Infused with surfactant cleanser, humectant, and superabsorbers, this dressing can provide absorption and comfort and minimize pain because less cleaning is required and the soft padding is comforting to the skin. Various foams can be an excellent choice for protection, absorption, and padding.
In the neonatal period, medical Leptospermum honey gel/dressing can be helpful in deep fissures, wounds, and mucosal ulcers. Our medical team has observed occasional pain reactions on honey application to the injured skin; these can be addressed by using contact perforated layers such as Mepitel soft silicone dressing (Mölnlycke Health Care, Sweden) to protect denuded skin while allowing topical product applications. As children with ichthyosis get older, nanocrystalline silver-coated foams can be used more often because immature skin and systemic absorption become less of a concern. In addition, skin colonization can be reduced with a diluted bleach bath (safe to do in full-term babies in the neonatal unit) every 3 to 4 days.
Debridement. Minimal debridement is recommended because an aggressive approach can lead to further injury, but significant fissuring and peeling can leave tissue nonviable. Application of a hydrogel or surfactant-based gel makes slough/scale easier to remove. Conservative gentle trimming with scissors tends to work best for me.
For deeper wounds, all of the above management strategies apply; more advanced products such as collagen-based and amniotic membrane-based products also may be utilized.
Corneal drying. Corneal drying can be avoided by applying artificial tears and emollients around the eye area. A 10% urea cream applied to eyelid skin 2 to 3 times per day can prevent skin contracture. Reports of bilayer skin substitute for cicatrical ectropion and amniotic membrane transplant to promote epithelialization have been published.3 Oral membrane care (specifically, fissures on the lips and mouth mucosa) involves use of bland emollients. In my experience, Leptospermum honey gel is helpful for oral mucositis and fissured, dry lips (I often mix it with a bit of petrolatum).
Contractures. Contractures of the hands/feet can lead to ischemia, gangrene, functional deformity, or total loss of digits. Contracture release is important, keeping in mind the painful aspect of this procedure. Gentle physical therapy can be helpful when skin flexibility is greatly diminished, but the clinician must be made aware of the potential for friction-induced injury and pain. We often incorporate a pain management team in the care of these babies.
Medical Management
Hypoalbuminemia and protein insufficiency can accompany TEWL, hypermetabolic and inflammatory states, and poor nutrition. Gavage feeds via orogastric or gastric tubes are acceptable, and with intravenous parenteral nutrition and supplementation with protein, electrolytes, zinc, vitamins, and fatty acids to ensure proper growth and optimal skin healing.
Case Report
A 19-year-old woman was admitted to the hospital with preterm, premature rupture of her membranes at 33 weeks’ gestation. Poor prenatal care was documented, but no complication was noted in the last ultrasound examination at 28 weeks of pregnancy (as per the mother). The baby girl was born with harlequin ichthyosis. Her skin was covered with plates of thick yellow scale split by deep fissures; her face had eclabium with open mouth, bilateral ectropion with fixed skin, immature and plugged auricles, and absent eyebrows/hair (see Figure 1). Her feet and hands were deformed, with poorly formed ischemic fingers/no nails and contractures due to inflexible skin (see Figure 2). Antibiotic therapy, a humidified and warmed isolette, intravenous fluids, and respiratory support were provided. The baby required emollients and infused gauze, scale release cutdowns on her legs and hands to avoid further contractures and mitten deformity, DACC-coated mesh on those areas to provide antimicrobial care, conservative treatment with active Leptospermum honey gel around deep fissures, and generally prolonged care in the neonatal intensive care unit due to poor feeding, frequent episodes of dehydration, and infections with gram-positive organisms. As she became older, diluted bleach baths, twice a week, were initiated along with retinoid treatment. General hyperkeratinization and underlying erythroderma were always present. The baby’s trunk and extremities improved before her facial skin, requiring meticulous eye/mouth care (see Figure 3). She eventually was discharged to a rehabilitation facility and required multidisciplinary care, with guarded long-term prognosis as skin conditions tend to flare, leading to various challenges.
Summation
Icthyosis is a challenging, lifelong dermatological disorder that requires astute and caring management. Meticulous topical treatment can assuage the symptoms, and systemic care may be required as a result of some of the disease’s manifestations that affect feeding and hydration. An awareness of the management options is crucial for the evidence-based care of children born with this condition.
Affiliation
Dr. Boyar is Director of Neonatal Wound Services, Cohen Children’s Medical Center of New York, New Hyde Park; and an Assistant Professor of Pediatrics,
Zucker School of Medicine, Hofstra/Northwell, Hempstead, NY.
