AT WCPD 2017

CHICAGO (FRONTLINE MEDICAL NEWS) – The neonatal period and early infancy are especially critical for patients with ichthyosis, because compromised barrier function increases risk for morbidity and mortality.

“There are minimal data presently to guide management of patients with ichthyosis, making it a time of uncertainty,” Brittany Craiglow, MD, said at the World Congress of Pediatric Dermatology. “You’re going to want to get all hands on deck for the care of these patients. And don’t forget about the family – involve them in the care as much as possible. Reassure them; normalize their feelings, acknowledge them.”

Cases of moderate to severe ichthyosis are rare, genetic disorders, affecting only about 200 births in the United States each year, said Dr. Craiglow , a pediatric dermatologist with Yale University, New Haven, Conn. “That means that even at a major academic center, you’re not going to see a lot of these cases.”

There are six general phenotypes of ichthyosis that differ from the eventual “mature” phenotype and are associated with numerous genes: collodion baby, armor-like scale, exuberant vernix, erythroderma and scale, bullae and erosions, and generalized scale.

The collodion baby phenotype is characterized by a shiny parchment-like membrane that covers the baby’s body, ectropion, and fissures, and is commonly associated with autosomal recessive congenital ichthyosis (ARCI). “About 10% of babies with ARCI are self healing, so they’ll go on to have largely normal skin,” Dr. Craiglow said. Guidelines for managing this phenotype can be found in the Journal of the American Academy of Dermatology ( 2012 Dec;67[6]:1362-74 ).

Armor-like scale is pathognomonic for harlequin ichthyosis. “This condition is associated with the highest mortality in the neonatal period,” she said. “In addition to the potential complications associated with other phenotypes, babies with harlequin ichthyosis can also have issues related to constriction of movement and flexibility and digital ischemia.” Tips for practical management of this phenotype were published online in the journal Pediatrics ( 2017 Jan;139[1] ).

The exuberant vernix/cephalic hyperkeratosis phenotype generally appears in children with keratitis-ichthyosis-deafness syndrome (KID) and ichthyosis prematurity syndrome (IPS). Special considerations in KID include a hearing test and ophthalmology exam, while special considerations in IPS include respiratory compromise and atopic diathesis. Electron microscopy is diagnostic, characterized by curvilinear bodies in the granular layer.

The erythroderma and scale phenotype occurs most commonly in ARCI and Netherton syndrome. “Special considerations in Netherton syndrome include failure to thrive/growth failure,” Dr. Craiglow said. “Hair shaft abnormalities are usually present later, and nutritional support is really important.”

Bullae and erosions are hallmark signs of epidermolytic/superficial ichthyosis. On biopsy, epidermolytic hyperkeratosis is diagnostic for this phenotype. At the same time, cases with normal skin or xerosis are suggestive of X-linked ichthyosis, ichthyosis vulgaris, erythrokeratodermas, and Sjögren-Larsson syndrome.

Genetic testing for ichthyosis is generally readily available, Dr. Craiglow said. She advised clinicians to obtain a sample soon after birth to confirm the clinical diagnosis, assist with assessing prognosis, and enable genetic counseling. “It’s important to help identify those at risk for systemic complications,” she said. “Obtaining insurance coverage may be easier when sent during hospital admission.”

Babies with moderate to severe congenital ichthyosis are typically cared for in the neonatal ICU of a tertiary care center by a multidisciplinary team consisting of neonatology, dermatology, nursing, nutrition, and genetics, as well as ophthalmology, otolaryngology, orthopedics, plastic surgery, and spiritual/religious services in many cases. “These babies often have impaired thermoregulation,” Dr. Craiglow said. “They need to be in an isolette, generally with humidity somewhere between 50% and 70% – you don’t want it too high, because they can overheat. It’s also important to get them out of the isolette and into an open crib when they’re ready. That can help with bonding and has been shown to decrease hospital stay.”

Infection is a common culprit for morbidity and mortality. “In general, there are not a lot of data to guide our management; but generally, we don’t recommend prophylactic antibiotics,” Dr. Craiglow said. “Some people do surveillance cultures just to know what microbes are there in case there are signs of infection. Look for level of alertness, because they’re not always going to have a fever. Look for hemodynamic instability, irritability, or poor feeding, and have a low threshold to do your cultures and treat if necessary.”

Pain control is an imperative aspect of pain management.

“Typical newborn pain parameters of facial expression and extremity tone may be hard to interpret,” she said. “Look at heart rate, blood pressure, crying, level of arousal, and have a low threshold to treat for pain, especially prior to changing dressings. Acetaminophen and NSAIDs and even opioids in some cases might be indicated. Families want to know that pain is being adequately controlled.”

Retinoids are generally used in patients with harlequin ichthyosis. “In the United States, we generally use acitretin, but there is no liquid formulation, so you have to enlist help from a compounding pharmacy to mix a formulation of 0.5-0.1 mg/kg per day,” Dr. Craiglow said. “You want to start as soon as you can. Topical retinoids such as tazarotene are also an option.”

Resources that she recommends for parents include the Foundation for Ichthyosis and Related Skin Types , the Ichthyosis Support Group , and the European Network for Ichthyosis .

Dr. Craiglow reported having no relevant financial disclosures.