Harlequin Ichthyosis Follow-up

Author: Julie Prendiville, MBBCh; Chief Editor: Dirk M Elston, MD more...

Updated: Jul 28, 2011

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Further Inpatient Care
Further Outpatient Care
Transfer
Complications
Prognosis
Patient Education
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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.^[18]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.

Nutritional rickets is described in patients with harlequin ichthyosis and X-linked ichthyosis.^[19]It is likely secondary to defective vitamin D synthesis in the abnormal epidermis, increased calcium loss through the skin, and poor exposure to sunlight. Although not specifically described in harlequin ichthyosis, all patients with disorders of keratinization might be at risk.

Further Outpatient Care

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.^{[20, 17]}

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 of the underlying disorder and for monitoring of retinoid therapy.

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

Follow-up with an ophthalmologist may be required. Recurrent exposure keratitis can be a problem.

Transfer

Once stabilized, newborns with harlequin ichthyosis should be transferred to a level 3 neonatal nursery.

Complications

Gram-positive and gram-negative sepsis has been reported after the newborn period. Children who survive have skin changes that resemble nonbullous congenital ichthyosiform erythroderma, with chronic erythroderma and a fine scale over the whole body.

Severe ichthyosis with eclabium and ectropion can relapse. Contractures and painful fissuring of the hands and the feet may occur without adequate topical or systemic therapy.

Prognosis

Fulminant sepsis remains the most common cause of death in affected infants.

Both normal intellect and developmental delay are described. In general, intellectual development is thought to be normal. Rajpopat et al report most school-aged survivors were attending mainstream schools, although many needed additional help.^[31]In patients who survive, growth and development must be closely monitored. Severe failure to thrive from excessive cutaneous protein loss is reported. Short stature is common. Thyroid function must be checked in all patients with harlequin ichthyosis who have failure to thrive and short stature. Hypothyroidism is reported.^[21]Juvenile idiopathic arthritis has been reported in a patient with harlequin ichthyosis.^[21]

Patient Education

Emphasize the need for attention to skin lubrication and for compliance with systemic therapy. Teach parents and caregivers to recognize signs of infection. It may be helpful for parents to communicate with other families who have been similarly affected. The congenital ichthyoses can have devastating medical and social consequences.

Contributor Information and Disclosures

Author

Julie Prendiville, MBBCh Clinical Professor in Pediatrics, University of British Columbia; Head, Division of Pediatric Dermatology, British Columbia's Children's Hospital, Canada

Julie Prendiville, MBBCh is a member of the following medical societies: American Academy of Dermatology, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Abby S Van Voorhees, MD Assistant Professor, Director of Psoriasis Services and Phototherapy Units, Department of Dermatology, University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania

Abby S Van Voorhees, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, National Psoriasis Foundation, Phi Beta Kappa, Sigma Xi, and Women's Dermatologic Society

Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Merck Salary Management position; Abbott Honoraria Speaking and teaching; Amgen Honoraria Review panel membership; Centocor Honoraria Consulting; Leo Consulting; Merck None Other

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Joel M Gelfand, MD, MSCE Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Sheila Au, MD, to the development and writing of this article.

References

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Ichthyosis fetalis. Courtesy of Dr Bernice Krafchik.

Ichthyosis fetalis. Courtesy of Jason K Rivers, MD, FRCPC, and Dr Lawler.

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