What is epidermolytic ichthyosis (EI)?

Answer

Epidermolytic ichthyosis (EI), formerly known as epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma (bullous CIE), is a form of congenital ichthyosis. It is inherited in an autosomal dominant fashion, with about 50% of cases representing spontaneous mutations. Epidermolytic ichthyosis presents at birth with erythroderma, blisters, and erosions and evolves over time into varying degrees of hyperkeratosis.

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Media Gallery

Pathology of epidermolytic ichthyosis (hematoxylin and eosin stain).
Pathology of epidermolytic ichthyosis (hematoxylin and eosin stain).
The scale in epidermolytic ichthyosis is classically described as "corrugated". Patients often experience erosions as a result of skin fragility.
The scale in epidermolytic ichthyosis is classically described as "corrugated". Patients often experience erosions as a result of skin fragility.
Palms and soles may have varying degrees of hyperkeratosis.
Hyperkeratosis involving the abdomen.
Hyperkeratosis involving the knee.

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Author

Brittany G Craiglow, MD Assistant Professor of Dermatology and Pediatrics, Yale University School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

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, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

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, Society for Investigative Dermatology, Association of Professors of Dermatology, North American Hair Research Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

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.

Tina S Chen Twu, MD Pediatric Dermatologist/Dermatologist, Sharp Rees-Stealy Medical Group, San Diego, CA

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

Disclosure: Nothing to disclose.

Acknowledgements

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.

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 and American College of Mohs Surgery

Disclosure: Nothing to disclose.

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.

What is epidermolytic ichthyosis (EI)?

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