eMedicine Specialties > Dermatology > Pediatric Diseases

Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma): Treatment & Medication

Author: Sidney B Smith, MD, Medical Director, Dermatologist, Dermatology, Dermacare Laser and Skin Care Clinics of Tri-Cities
Coauthor(s): Jeffrey B Smith, MD, Mohs Surgery, Kaiser Permanente, San Jose, CA
Contributor Information and Disclosures

Updated: Jan 24, 2007

Treatment

Medical Care

Correct diagnosis is the first step in this genodermatosis. Genetic counseling and prenatal diagnosis also can be offered.

Newborns with denuded skin are at increased risk for infection, secondary sepsis, and electrolyte imbalance. These newborns should be transferred to the neonatal ICU to be monitored and treated as needed.

Since the condition tends to improve with time, visits to the physician decrease. Wound care for blistering and aggressive moisturization/emollients are important.

Surgical Care

No surgical care is needed or recommended.

Consultations

  • Refer patients who are considering conceiving children to a geneticist for reproductive concerns and assistance.
  • Prenatal diagnosis can be made by ultrastructural analysis and by direct gene sequencing.
    • Prenatal diagnosis of EHK can be performed by ultrastructural analysis of fetal skin biopsies and amniotic fluid cells. Keratin 1 and keratin 10 are expressed suprabasally as early as week 14 of gestation; normal fetal keratinization does not begin until the 24th week. To date, keratin filament aggregates have been detected for diagnostic purposes in the 19th week of gestation for diagnosis.
    • Chorionic villus sampling can diagnose EHK earlier by direct gene sequencing if the familial mutation is known. The earliest documented diagnosis by this method is at the 15th week of gestation, but the chorionic villus sampling theoretically can be tested as early as the eighth week of gestation.

Diet

No special diet is needed.

Activity

Activity restrictions are not necessary.

Medication

No reported cure or specific therapy is available; however, reports of improvement have been noted with high-dose beta-carotene, systemic retinoids, topical retinoids, 10% glycerin, lactic acid, alpha-hydroxy acid, calcipotriol, antibacterial soap, and urea.

More on Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)

Overview: Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
Differential Diagnoses & Workup: Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
Treatment & Medication: Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
Follow-up: Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
Multimedia: Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
References
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References

  1. Bale SJ, DiGiovanna JJ. Genetic approaches to understanding the keratinopathies. Adv Dermatol. 1997;12:99-113; discussion 114. [Medline].

  2. DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol. Aug 1994;130(8):1026-35. [Medline].

  3. Kragballe K, Steijlen PM, Ibsen HH, et al. Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Results of a randomized, double-blind, vehicle-controlled, right/left comparative study. Arch Dermatol. May 1995;131(5):556-60. [Medline].

  4. Kwak J, Maverakis E. Epidermolytic hyperkeratosis. Dermatol Online J. 2006;12(5):6. [Medline].

  5. Lacz NL, Schwartz RA, Kihiczak G. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. Int J Dermatol. Jan 2005;44(1):1-6. [Medline].

  6. Leigh IM, Lane EB. Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis. Arch Dermatol. Dec 1993;129(12):1571-7. [Medline].

  7. Math A, Frank J, Handisurya A, et al. Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. Eur J Dermatol. Sep-Oct 2006;16(5):507-10. [Medline].

  8. McGowan KA, Aradhya S, Fuchs H, et al. A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. J Invest Dermatol. May 2006;126(5):1013-6. [Medline].

  9. Muller FB, Huber M, Kinaciyan T, et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet. Apr 1 2006;15(7):1133-41. [Medline].

  10. Rothnagel JA, Lin MT, Longley MA, et al. Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. Prenat Diagn. Aug 1998;18(8):826-30. [Medline].

  11. Smack DP, Korge BP, James WD. Keratin and keratinization. J Am Acad Dermatol. Jan 1994;30(1):85-102. [Medline].

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Further Reading

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Keywords

bullous congenital ichthyosiform erythroderma

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Contributor Information and Disclosures

Author

Sidney B Smith, MD, Medical Director, Dermatologist, Dermatology, Dermacare Laser and Skin Care Clinics of Tri-Cities
Sidney B Smith, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Jeffrey B Smith, MD, Mohs Surgery, Kaiser Permanente, San Jose, CA
Jeffrey B Smith, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Marjan Garmyn, MD, PhD, Professor, Faculty of Medicine, Katholieke Universiteit Leuven, Belgium; Chair and Adjunct Head, Department of Dermatology, University of Leuven, Belgium
Disclosure: Nothing to disclose.

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

Jeffrey J Miller, MD, Associate Professor, Department of Dermatology, Penn State University, Milton S Hershey Medical Center
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

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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