eMedicine Specialties > Dermatology > Pediatric Diseases

Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma): Differential Diagnoses & Workup

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

Differential Diagnoses

Epidermolysis Bullosa
Ichthyosis, Lamellar
Ichthyosis, X-Linked
Staphylococcal Scalded Skin Syndrome
Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis

Other Problems to Be Considered

Ichthyosis bullosa of Siemens
Ichthyosis hystrix, Curth-Macklin type
Nonbullous ichthyosiform erythroderma

Workup

Laboratory Studies

  • No general laboratory studies are needed, except if necessary to follow chosen therapy or bacterial culture for suspected infection. Keratin defect studies can be performed.

Procedures

  • Along with clinical presentation and history, biopsies can be diagnostic in de novo cases.
  • Keratin studies can be performed.
  • Prenatal diagnosis can be made through analysis of chorionic villus sampling, amniotic cells, or fetal skin biopsies.

Histologic Findings

Hematoxylin and eosin findings are distinctive but not unique. Typical findings include marked hyperkeratosis, thick granular layer, coarse keratohyaline granules, and vacuolar degeneration of the upper dermis. Occasionally, deeper granular cells become dense, enlarged, and irregular, and the shaped masses appear to be keratohyaline granules. Electron microscopy findings show clumping of keratin filaments beginning at the suprabasal layer.

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
[ CLOSE WINDOW ]

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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

bullous congenital ichthyosiform erythroderma

[ CLOSE WINDOW ]

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.

 
 
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.