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Histopathologic characterization of epidermolytic hyperkeratosis: A systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders - 24/04/13

Doi : 10.1016/j.jaad.2008.02.031 
Rustin Ross, MD a, John J. DiGiovanna, MD a, Laura Capaldi, MD b, Zsolt Argenyi, MD c, d, Philip Fleckman, MD d, Leslie Robinson-Bostom, MD a, e,
a Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island 
b Division of Dermatology, University of Massachusetts, Worcester, Massachusetts 
c Department of Pathology, University of Washington, Seattle, Washington 
d Department of Medicine (Dermatology), University of Washington, Seattle, Washington 
e Department of Pathology, Rhode Island Hospital, Providence, Rhode Island 

Correspondence to: Leslie Robinson-Bostom, MD, Department of Dermatology, The Warren Alpert Medical School of Brown University, and Department of Pathology, Rhode Island Hospital, 593 Eddy St., APC-10, Providence, RI 02903.

Abstract

Background

The clinical condition generalized epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is an autosomal dominant disorder and presents as a bullous disease of the newborn followed by an ichthyotic skin disorder throughout life. Clinical epidermolytic hyperkeratosis (cEHK) has characteristic histopathologic findings. Mosaic cEHK, which occurs without a family history, is a sporadic condition that clinically resembles epidermal nevi but demonstrates histopathologic findings similar to the generalized disorder; when a postzygotic mutation involves the germ line, the disease can occur in subsequent generations as generalized cEHK. Ichthyosis bullosa of Siemens (IBS) is similar histopathogically, but is clinically distinct from generalized cEHK, presenting with more superficial bullae.

Objectives

It is well established that the clinical diagnoses generalized cEHK, mosaic cEHK, and IBS have similar histopathologic findings of epidermolysis with hyperkeratosis. We sought (1) to characterize the spectrum of histopathologic features and (2) to assess whether there were histopathologic differences between these clinically distinct disorders.

Methods

One hundred seventeen skin biopsy slides from the National Registry for Ichthyosis and Related Skin Disorders were reviewed, with those reviewers blinded to clinical information. All slides were systematically evaluated for a variety of features, including differences in the pattern of the epidermolysis and hyperkeratosis. Clinical predictions of whether the biopsy specimen was obtained from patients with generalized cEHK, mosaic cEHK, or IBS were made on the basis of histologic pattern of the epidermolysis and hyperkeratosis.

Results

Eighteen of the 117 slides revealed features sufficient to make a histologic diagnosis of epidermolytic hyperkeratosis (hEHK). One additional slide, for which a definitive histologic diagnosis was not possible, had features of both hEHK and acantholytic dyskeratosis. Two distinct patterns of the histopathologic changes were observed within the 18 slides diagnostic of hEHK: (1) continuous involvement of the entire horizontal epidermis and (2) focal involvement revealing skip areas of normal-appearing epidermis along the horizontal epidermis. Upon clinical correlation, all 12 of the slides with continuous involvement were from patients with generalized cEHK. One slide was from acral skin and had continuous involvement; this was from a patient with Vorner’s palmoplantar keratoderma. Of the remaining 5 slides with focal involvement, two patterns were observed: focal involvement of both granular and spinous layers and focal involvement of only the granular layer. The 3 slides with focal involvement of the granular and spinous layers were from patients with mosaic cEHK. Of the two slides with focal involvement confined to the granular layer, one was from a patient with IBS and the other from a patient with generalized cEHK.

Limitation

The sample pool is biased by who was enrolled in the Registry and therefore may not represent the full spectrum of the disease.

Conclusion

The pattern of histologic involvement may be a useful predictor of the clinical phenotype of cEHK.

Le texte complet de cet article est disponible en PDF.

Abbreviations used : cEHK, EHK, hEHK, IBS, The Registry


Plan


 Supported in part by the University of Washington General Clinical Research Center, National Institutes of Health grant M01-RR-00037, and funds from the Foundation for Ichthyosis and Related Skin Types, the Pachyonychia Congenita Fund, and GeneDx.
 Conflicts of interest: None declared.
 The material in this paper was presented as a poster at the annual meeting of the American Society of Dermatopathology, Seattle, Wash, October 2005.
 Reprints not available from the authors.


© 2008  American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
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Vol 59 - N° 1

P. 86-90 - juillet 2008 Retour au numéro
Article précédent Article précédent
  • The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations
  • Vered Molho-Pessach, Ziad Agha, Suhail Aamar, Benjamin Glaser, Victoria Doviner, Nurith Hiller, David Haim Zangen, Annick Raas-Rothschild, Ziva Ben-Neriah, Shaher Shweiki, Orly Elpeleg, Abraham Zlotogorski
| Article suivant Article suivant
  • A histologic review of 27 patients with lichen planopilaris
  • Yasmeen K. Tandon, Najwa Somani, Nathaniel C. Cevasco, Wilma F. Bergfeld

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