Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) Workup

  • Author: Tina S Chen, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: May 11, 2012
 

Laboratory Studies

  • No general laboratory studies are needed for epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]), except if necessary to follow chosen therapy or bacterial culture for suspected infection.
  • Keratin defect studies can be performed on buccal swabs or blood.
  • Once a mutation is identified in an affected individual, mutation-specific testing for relatives and prenatal diagnosis is available.
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Procedures

  • Along with clinical presentation and history, skin biopsy can be helpful, with the histologic findings confirming a diagnosis of epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]).
  • Prenatal diagnosis can be made through chorionic villus sampling, analysis of amniotic cells, or fetal skin biopsies.
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Histologic Findings

In epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]), hematoxylin and eosin findings are distinctive but not unique to epidermolytic hyperkeratosis. Typical findings include marked hyperkeratosis, a 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. In addition, dyskeratosis is frequently present to varying degrees.[18] Patients whose pathologic slides demonstrate continuous involvement of the entire horizontal epidermis with these distinctive findings are more likely to have generalized disease; those with focal involvement revealing skip areas of normal epidermis are more likely to have a sporadic, mosaic form of epidermolytic hyperkeratosis.[19]

On electron microscopy, large, round-to-oval, dense clumps of keratin tonofilaments can be seen in the lower epidermal layers.

Hematoxylin and eosin staining of epidermolytic hyperkeratosis is shown in the images below.

Pathology of epidermolytic hyperkeratosis (hematoxPathology of epidermolytic hyperkeratosis (hematoxylin and eosin stain). Pathology of epidermolytic hyperkeratosis (hematoxPathology of epidermolytic hyperkeratosis (hematoxylin and eosin stain).
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Contributor Information and Disclosures
Author

Tina S Chen, MD  Pediatric Dermatology Fellow, Rady Children's Hospital, Department of Dermatology, University of California, San Diego

Tina S Chen, MD is a member of the following medical societies: American Academy of Dermatology, California Society of Dermatology and Dermatologic Surgery, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Brandie J Metz, MD  Assistant Clinical Professor of Dermatology and Pediatrics, Chief of Pediatric Dermatology, University of California, Irvine, School of Medicine

Brandie J Metz, MD is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology, and Women's Dermatologic Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

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.

Jeffrey J Miller, MD  Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania 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.

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.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Sidney B. Smith, MD, and Jeffrey Smith, MD, to the development and writing of this article.

References

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The scale in epidermolytic hyperkeratosis is classically described as "corrugated cardboard"-like.
Palms and soles may have varying degrees of hyperkeratosis.
Anterior ankles.
Close-up view of ankle.
Pathology of epidermolytic hyperkeratosis (hematoxylin and eosin stain).
Pathology of epidermolytic hyperkeratosis (hematoxylin and eosin stain).
 
 
 
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