Harlequin Ichthyosis Treatment & Management

Updated: May 07, 2019
  • Author: Fnu Nutan, MD, FACP; Chief Editor: Dirk M Elston, MD  more...
  • Print
Treatment

Approach Considerations

Newborns with harlequin ichthyosis require management in a level III neonatal intensive care unit. [5]

Next:

Medical Care

Patient's airway, breathing, and circulation stability to be accessed after delivery. Early intubation may be required. [21] Babies require intravenous access. Peripheral access may be difficult and umbilical cannulation may be necessary. Premature infants may need a humidified incubator. Monitor temperature, respiratory rate, heart rate, and oxygen saturation. Discussion about the aggressiveness of the intensive care is made on a patient-by-patient basis, and palliative support must be offered when appropriate to the parents. Pain control is important owing to deep fissuring, and opioids may be necessary in some neonates. [22]

Exposure keratitis results from ectropion of the eyelids. Apply ophthalmic lubricants frequently to protect the conjunctivae. [23]

Bathe infants twice daily and use frequent wet sodium chloride compresses followed by application of bland lubricants to soften hard skin. Dilute bleach baths may reduce the risk of skin infection. [24]

Topical keratolytics (eg, salicylic acid) are not recommended in newborns because of potential systemic toxicity.

According to Rajpopat et al, early retinoid treatment (by day 7) may require prompt consideration, as these medications can take some days to obtain. [13] See Medication.

Tazarotene, a topical retinoid, has been reported to be beneficial. [24, 25]

Intravenous fluids are almost always required. [24] Consider excess cutaneous water losses in daily fluid requirement calculations. Monitor serum electrolyte levels. A risk of hypernatremic dehydration exists.

Neonates with harlequin ichthyosis initially do not feed well and may require tube feeding. [13]

Maintain a sterile environment to avoid infection. Take frequent cultures of the skin. Growth of pathogenic organisms (eg, Staphylococcus aureus, Pseudomonas aeruginosa, Klebsiella) indicates risk of sepsis. Draw blood cultures because sepsis can occur quickly in affected infants.

Further inpatient care

Continue careful attention to skin care and use of emollients during retinoid therapy.

Infants with harlequin ichthyosis can be successfully breastfed or bottle-fed as the eclabium improves. [26] Involving occupational therapy to aid in feeding strategies is advised. Carefully monitor weight gain and intake. Affected infants are at risk of failure to thrive.

Physical bonding between the parents and the baby should be encouraged.

Previous
Next:

Consultations

Early formation of a multidisciplinary team is recommended and may include the following:

  • Neonatologist

  • Dermatologist

  • Medical geneticist

  • Ophthalmologist

  • Ear-nose-throat specialist

  • Plastic surgeon

  • Dietician

  • Social worker

  • Occupational therapist

  • Physical therapist

Previous
Next:

Surgical Care

Hyperkeratosis causing constriction of limbs, digits, or nasal obstruction may need to be treated surgically. Neonates can have compartmental syndrome due to the dense scales and need superficial and sometimes dermal release for preventing ischemia and possible limb loss. [21, 24, 27]

Previous
Next:

Long-Term Monitoring

Infants are discharged from the hospital when their cutaneous symptoms are improving, feeding and weight gain are established, and they are free of infection.

Social and psychological support should be provided for the parents/caregivers. [5]

The primary care physician should closely monitor the infants for growth, development, social issues, and skin surveillance. A dermatologist should monitor affected infants for ongoing assessment and for monitoring of retinoid therapy.

Adverse effects of retinoid therapy (eg, mucocutaneous dryness, aberrant liver function tests, hypertriglyceridemia, benign intracranial hypertension) should be noted. Serum AST, ALT, total cholesterol, and triglyceride levels should initially be obtained on a monthly basis initially. The clinician should be cognizant of the musculoskeletal abnormalities that can occur with long-term retinoid therapy, if treatment is continued.

Follow-up with an ophthalmologist is required. Recurrent exposure keratitis can be a problem as a result of persistent ectropion.

Previous