Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) Treatment & Management

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

Medical Care

Accurate diagnosis of epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]) is important in order to properly inform and counsel parents. Genetic counseling and prenatal diagnosis also can be offered.[16]

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. They should be handled gently to avoid further trauma to the skin.

Wound care for blistering and moisturization/emollients are important in the newborn period. In older children, topical emollients continue to be the mainstay of treatment. The accumulation of scale predisposes to overgrowth of bacteria, in particular with Staphylococcus aureus, and an odor. Patients may benefit from the use of mild antibacterial soaps or chlorhexidine-containing cleansers. Keratolytic agents are poorly tolerated by these patients, resulting in sloughing of large plates of scale.

Epidermolytic hyperkeratosis tends to improve with increasing age.

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Surgical Care

No surgical care is needed or recommended for epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]).

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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 biopsy specimens 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.
  • 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.
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Diet

No special diet is needed for patients with epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]).

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Activity

Activity restrictions are not necessary for patients with epidermolytic hyperkeratosis (EHK, bullous congenital ichthyosiform erythroderma [bullous CIE]).

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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

  1. Terheyden P, Grimberg G, Hausser I, et al. Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. J Invest Dermatol. Nov 2009;129(11):2721-3. [Medline].

  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].

  5. Ishii N, Hamada T, Yasumoto S, Hashimoto T. A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. Clin Exp Dermatol. May 2008;33(3):353-4. [Medline].

  6. 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].

  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, 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].

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

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

  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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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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