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
Contributor Information and Disclosures

Updated: Dec 2, 2009

Treatment

Medical Care

Correct diagnosis of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) is the first step in this genodermatosis. Genetic counseling and prenatal diagnosis also can be offered.8

Newborns with epidermolytic hyperkeratosis who have 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.

Because epidermolytic hyperkeratosis 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 for epidermolytic hyperkeratosis.

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 epidermolytic hyperkeratosis 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 epidermolytic hyperkeratosis 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 for patients with epidermolytic hyperkeratosis.

Activity

Activity restrictions are not necessary for patients with epidermolytic hyperkeratosis.

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.9,10,11

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

  2. 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].

  3. 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].

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

  5. 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].

  6. Morais P, Mota A, Baudrier T, et al. Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. Eur J Dermatol. Jul-Aug 2009;19(4):333-6. [Medline].

  7. Betlloch I, Lucas Costa A, Mataix J, Perez-Crespo M, Ballester I. Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. Pediatr Dermatol. Jul-Aug 2009;26(4):489-91. [Medline].

  8. 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].

  9. 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].

  10. Kwak J, Maverakis E. Epidermolytic hyperkeratosis. Dermatol Online J. Sep 8 2006;12(5):6. [Medline].

  11. Achar A, Naskar B, Laha R, Ray S. Epidcermolytic hyperkeratosis: a case report. J Indian Med Assoc. Mar 2009;107(3):171-2. [Medline].

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

  13. 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].

  14. 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

epidermolytic hyperkeratosis, 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.

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 of Dermatology, Penn State University College of Medicine; Staff Dermatologist, Penn State Milton S Hershey Medical Center
Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Professors of Dermatology, North American Hair Research Society, and Society for Investigative Dermatology
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 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, 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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