SEGMENTAL FORMS OF HAILEY-HAILEY DISEASE AND THEIR MANIFESTATIONS: CLINICAL CASES

Abstract

Hailey-Hailey disease (familial benign chronic pemphigus by Gougerot-Hailey-Hailey) is a rare autosomal dominant skin disorder characterized by mostly symmetric skin lesions in the skin fold areas. However, segmental distribution of skin lesions in cases of epigenetic or genomic mosaicism can also occur. It is known that it is caused by a de novo post-zygotic mutation that appears at an early stage of embryogenesis both in somatic and in germinative cells. Depending on allele status, there are two types of segmental forms of autosomal dominant disorders. The article presents two clinical cases with manifestation of segmental form of Hailey-Hailey disease type 1 and type 2. These examples demonstrate not only the variety of clinical signs of the disease, but also specific features of this gene dermatosis and the prognosis of its inheritance in subsequent generations.

Keywords

• hailey-hailey disease
• mosaicism
• segmental forms
• clinical manifestations