Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) 

  • Author: Tina S Chen, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Mar 26, 2010
 

Background

Epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (bullous CIE), is a rare autosomal dominant genodermatosis, although up to 50% of cases represent new mutations. EHK presents as a bullous disease in newborns, followed by a lifelong ichthyotic skin disorder. In 1902, Brocq first described it as bullous ichthyotic erythroderma to distinguish the entity from congenital ichthyotic erythroderma.

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Pathophysiology

Epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]) results from mutations in the keratin 1 and keratin 10 genes. Many different mutation sites in the genes have been reported.

Keratins are divided into 2 classes: basic type II keratins and acidic type I keratins. Keratin 1 is one of the basic type II keratins found on chromosome 12; keratin 10 is one of the acidic type I keratins found on chromosome 17.

Keratins form intermediate filaments when both type I and type II keratins are present. Intermediate filaments provide structural stability to keratinocytes. Keratins 1 and 10 are coexpressed and are involved in the suprabasilar differentiation of keratinocytes.

Mutations in these keratin genes lead to the formation of defective keratin proteins, which, although still able to incorporate into intermediate filaments, function poorly. This leads to skin cell collapse and clinical blistering. The thickening of the skin is thought to be compensatory to protect against blistering.

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Epidemiology

Frequency

United States

The incidence of epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]) is 1 case per 200,000-300,000 persons.

International

The incidence of epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]) internationally is the same as it is in United States.

Mortality/Morbidity

Mortality and morbidities of epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]) include recurrent infection, sepsis, and electrolyte imbalance, which are possible during the neonatal period.

Race

No racial predilection is apparent for epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]).

Sex

No sex predilection is recognized for epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]).

Age

Epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]) is a lifelong condition with an onset at birth or in the neonatal period.

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Contributor Information and Disclosures
Author

Tina S Chen, MD  Resident Physician, Department of Dermatology, University of California of Irvine, School of Medicine

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 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, 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.

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.

References

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  2. Tsubota A, Akiyama M, Kanitakis J, et al. Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. J Invest Dermatol. Jul 2008;128(7):1648-52. [Medline].

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

  4. el-Khateeb EA. Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. Pediatr Dermatol. Mar-Apr 2008;25(2):279-82. [Medline].

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  8. 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].

  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. 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].

  11. Betlloch I, Lucas Costa A, Mataix J, Pérez-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].

  12. Chassaing N, Kanitakis J, Sportich S, et al. Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. J Invest Dermatol. Dec 2006;126(12):2715-7. [Medline].

  13. Akhyani M, Kiavash K, Kamyab K. Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. Int J Dermatol. Feb 2009;48(2):215-7. [Medline].

  14. Bergman R, Khamaysi Z, Sprecher E. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Am J Dermatopathol. Apr 2008;30(2):101-5. [Medline].

  15. Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol. Jul 2008;59(1):86-90. [Medline].

  16. 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].

  17. 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].

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  20. ten Freyhaus K, Kaiser HW, Proelss J, Tuting T, Bieber T, Wenzel J. Successful treatment of bullous congenital ichthyosiform erythroderma with erythromycin. Dermatology. 2007;215(1):81-3. [Medline].

  21. Umekoji A, Fukai K, Ishii M. A case of mosaic-type bullous congenital ichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue. Clin Exp Dermatol. Jul 2008;33(4):501-2. [Medline].

 
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Pathology of epidermolytic hyperkeratosis (hematoxylin and eosin stain).
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