The histopathology and phenotypic variability in H syndrome

David Dias-Polak; Margarita Indelman; Reuven Bergman; Emily Avitan-Hersh

doi:10.1002/ccr3.1329

The histopathology and phenotypic variability in H syndrome

Clin Case Rep. 2018 Jan 25;6(3):476-478. doi: 10.1002/ccr3.1329. eCollection 2018 Mar.

Authors

David Dias-Polak¹, Margarita Indelman², Reuven Bergman^{1

2}, Emily Avitan-Hersh^{1

2}

Affiliations

¹ Department of Dermatology Rambam Health Care Campus HaAliya HaShniya St 8, Haifa POB 9602 Haifa 31096 Israel.
² Laboratory of Molecular Dermatology The Bruce Rappaport Faculty of Medicine, Technion Rambam Health Care Campus HaAliya HaShniya St 8, Haifa POB 9602 Haifa 31096 Israel.

Abstract

Skin biopsy may be helpful in the diagnosis of H syndrome. A triad of dermal fibrosis, lymphocytic aggregates, and numerous CD68+, CD163+, S100-positive, and CD1a-negative dermal histiocytes is characteristic.

Keywords: H syndrome; histopathology; phenotypic variability; recurrent mutation.

Publication types

Case Reports