eMedicine Specialties > Dermatology > Pediatric Diseases

Ichthyosis Fetalis: Follow-up

Author: Julie Prendiville, MB, BCh, Clinical Professor in Pediatrics, University of British Columbia; Head, Division of Pediatric Dermatology, British Columbia's Children's Hospital, Canada
Contributor Information and Disclosures

Updated: Oct 21, 2008

Follow-up

Further Inpatient Care

  • Continue careful attention to skin care and use of emollients during retinoid therapy in ichthyosis fetalis patients.
  • Infants with HI 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 failing to thrive.
  • Nutritional rickets is described in patients with ichthyosis fetalis 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 ichthyosis fetalis, 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.
  • 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.
  • Ophthalmology follow-up may be required. Recurrent exposure keratitis can be a problem.

Transfer

  • Once stabilized, newborns with HI 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.
  • Life expectancy is unknown. Survival to age 14 years is reported.
  • Both normal intellect and developmental delay are described. In general, intellectual development is thought to be normal.
  • 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 HI who have failure to thrive and short stature. Hypothyroidism is reported in ichthyosis fetalis.20
  • Rheumatoid arthritis has been reported in a patient with ichthyosis fetalis.20

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.

Miscellaneous

Medicolegal Pitfalls

  • The physician must take time to discuss systemic retinoid therapy with the parents, including long- and short-term risks and limitations of the treatment.
  • The family must be aware that, despite clinical improvement with systemic retinoid therapy, the prognosis of this disorder is guarded.

Special Concerns

  • DNA-based prenatal testing is now available for HI, and it is the investigation of choice for prenatal diagnosis of this condition. Current information regarding the timing and logistics of prenatal diagnosis of HI is available from GeneDx.
  • Before genetic testing was available for HI, fetal skin biopsy was sometimes used to detect ultrastructural changes consistent with HI.21 Fetal skin biopsy can help in detecting HI as early as 19 weeks' gestation. Biopsy samples from a number of sites in the fetus reveal characteristic changes on all skin surfaces except the mucous membranes. Amniotic fluid samples obtained as early as 17 weeks' gestation have also demonstrated hyperkeratosis and abnormal lipid droplets in the cornified cells.
  • Prenatal 3D ultrasonography has also been successful in identifying the typical morphology of a harlequin fetus. This has been particularly helpful in antenatal diagnosis of infants with no family history of HI. Characteristic features include a large and gaping mouth, aplasia of the nose, abnormal limbs, and bulging eyes. Growth restriction and polyhydramnios are also described.
  • Two-dimensional ultrasonography can also demonstrate features of HI but not until late in the second trimester, when enough keratin buildup is present to be sonographically detectable. Short feet may be an early marker for HI. This may be detectable in the early second trimester before other signs of HI are noticeable.22
  • Termination is contraindicated late in gestation; however, prenatal identification of an affected neonate may allow parents and physicians to best prepare for the baby's delivery.
 
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.



More on Ichthyosis Fetalis

Overview: Ichthyosis Fetalis
Differential Diagnoses & Workup: Ichthyosis Fetalis
Treatment & Medication: Ichthyosis Fetalis
Follow-up: Ichthyosis Fetalis
Multimedia: Ichthyosis Fetalis
References
[ CLOSE WINDOW ]

References

  1. Haftek M, Cambazard F, Dhouailly D, Réano A, Simon M, Lachaux A, et al. A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. Br J Dermatol. Sep 1996;135(3):448-53. [Medline].

  2. Lawlor F. Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. Pediatrics. Dec 1988;82(6):870-3. [Medline].

  3. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. May 2005;76(5):794-803. [Medline].

  4. Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. Sep 15 2003;12(18):2369-78. [Medline].

  5. Uitto J. The gene family of ABC transporters--novel mutations, new phenotypes. Trends Mol Med. Aug 2005;11(8):341-3. [Medline].

  6. Michel M, Fleckman P, Smith LT, Dale BA. The calcium-activated neutral protease calpain I is present in normal foetal skin and is decreased in neonatal harlequin ichthyosis. Br J Dermatol. Dec 1999;141(6):1017-26. [Medline].

  7. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. Jul 2005;115(7):1777-84. [Medline].

  8. Stewart H, Smith PT, Gaunt L, Moore L, Tarpey P, Andrew S, et al. De novo deletion of chromosome 18q in a baby with harlequin ichthyosis. Am J Med Genet. Sep 1 2001;102(4):342-5. [Medline].

  9. Akiyama M, Dale BA, Smith LT, Shimizu H, Holbrook KA. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn. May 1998;18(5):425-36. [Medline].

  10. Akiyama M, Suzumori K, Shimizu H. Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age. Prenat Diagn. Feb 1999;19(2):167-71. [Medline].

  11. Berg C, Geipel A, Kohl M, Krokowski M, Baschat AA, Germer U, et al. Prenatal sonographic features of Harlequin ichthyosis. Arch Gynecol Obstet. Apr 2003;268(1):48-51. [Medline].

  12. Bongain A, Benoit B, Ejnes L, Lambert JC, Gillet JY. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound Obstet Gynecol. Jul 2002;20(1):82-5. [Medline].

  13. Watson WJ, Mabee LM Jr. Prenatal diagnosis of severe congenital ichthyosis (harlequin fetus) by ultrasonography. J Ultrasound Med. Mar 1995;14(3):241-3. [Medline].

  14. Chua CN, Ainsworth J. Ocular management of harlequin syndrome. Arch Ophthalmol. Mar 2001;119(3):454-5. [Medline].

  15. Haftek M, Cambazard F, Reano A. Harlequin foetus: a histological, ultrastructural and biochemical study of an etretinate-treated patient. Clin Exp Dermatol. 1989;14:393.

  16. Lacour M, Mehta-Nikhar B, Atherton DJ, Harper JI. An appraisal of acitretin therapy in children with inherited disorders of keratinization. Br J Dermatol. Jun 1996;134(6):1023-9. [Medline].

  17. Singh S, Bhura M, Maheshwari A, Kumar A, Singh CP, Pandey SS. Successful treatment of harlequin ichthyosis with acitretin. Int J Dermatol. Jul 2001;40(7):472-3. [Medline].

  18. Ripmeester P, Dunn S. Against all odds: breastfeeding a baby with harlequin ichthyosis. J Obstet Gynecol Neonatal Nurs. Sep-Oct 2002;31(5):521-5. [Medline].

  19. Thacher TD, Fischer PR, Pettifor JM, Darmstadt GL. Nutritional rickets in ichthyosis and response to calcipotriene. Pediatrics. Jul 2004;114(1):e119-23. [Medline].

  20. Chan YC, Tay YK, Tan LK, Happle R, Giam YC. Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis. Pediatr Dermatol. Sep-Oct 2003;20(5):421-6. [Medline].

  21. Suzumori K, Kanzaki T. Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn. Jul 1991;11(7):451-7. [Medline].

  22. Suresh S, Vijayalakshmi R, Indrani S, Lata M. Short foot length: a diagnostic pointer for harlequin ichthyosis. J Ultrasound Med. Dec 2004;23(12):1653-7. [Medline].

  23. Akiyama M. The pathogenesis of severe congenital ichthyosis of the neonate. J Dermatol Sci. Sep 1999;21(2):96-104. [Medline].

  24. Allen DM, Esterly NB. Significant systemic absorption of tacrolimus after topical application in a patient with lamellar ichthyosis. Arch Dermatol. Sep 2002;138(9):1259-60. [Medline].

  25. Ammirati CT, Mallory SB. The major inherited disorders of cornification. New advances in pathogenesis. Dermatol Clin. Jul 1998;16(3):497-508. [Medline].

  26. Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP. Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol. Jan 1990;94(1):6-18. [Medline].

  27. Dale BA, Kam E. Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism. Arch Dermatol. Nov 1993;129(11):1471-7. [Medline].

  28. DiGiovanna JJ. Ichthyosiform dermatoses. In: Fitzpatrick's Dermatology in General Medicine. 5th ed. New York, NY: McGraw-Hill; 1999:581-601.

  29. Fleck RM, Barnadas M, Schulz WW, Roberts LJ, Freeman RG. Harlequin ichthyosis: an ultrastructural study. J Am Acad Dermatol. Nov 1989;21(5 Pt 1):999-1006. [Medline].

  30. Gunes T, Akcakus M, Kurtoglu S, Cetin N, Karakükçü M. Harlequin baby with ecthyma gangrenosum. Pediatr Dermatol. Nov-Dec 2003;20(6):529-30. [Medline].

  31. Gånemo A, Sjöden PO, Johansson E, Vahlquist A, Lindberg M. Health-related quality of life among patients with ichthyosis. Eur J Dermatol. Jan-Feb 2004;14(1):61-6. [Medline].

  32. Haake AR, Holbrook K. The structure and development of skin. In: Fitzpatrick's Dermatology in General Medicine. New York, NY: McGraw-Hill; 1999:70-86.

  33. Hofmann B, Stege H, Ruzicka T, Lehmann P. Effect of topical tazarotene in the treatment of congenital ichthyoses. Br J Dermatol. Oct 1999;141(4):642-6. [Medline].

  34. Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest. Jul 2005;115(7):1708-10. [Medline].

  35. Prasad RS, Pejaver RK, Hassan A, al Dusari S, Wooldridge MA. Management and follow-up of harlequin siblings. Br J Dermatol. May 1994;130(5):650-3. [Medline].

  36. Roberts LJ. Long-term survival of a harlequin fetus. J Am Acad Dermatol. Aug 1989;21(2 Pt 2):335-9. [Medline].

  37. Unamuno P, Pierola JM, Fernandez E, Roman C, Velasco JA. Harlequin foetus in four siblings. Br J Dermatol. Apr 1987;116(4):569-72. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

ichthyosis fetalis, harlequin ichthyosis, HI, harlequin baby, ichthyosis congenita, keratosis diffusa fetalis, harlequin fetus

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Julie Prendiville, MB, BCh, Clinical Professor in Pediatrics, University of British Columbia; Head, Division of Pediatric Dermatology, British Columbia's Children's Hospital, Canada
Julie Prendiville, MB, BCh is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

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; Astellas Grant/research funds Other; Abbott Honoraria Consulting; Genentech Honoraria Consulting; Incyte Grant/research funds Other; Centocor Honoraria Consulting; Warner Chilcott  Consulting; Merck Salary Review panel membership

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University 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.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
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.

CME Editor

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 None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.