Abstract
Superficial epidermolytic ichthyosis (SEI), formerly known as ichthyosis bullosa of Siemens (IBS), is an extremely rare keratinization disorder with superficial peeling, with an estimated prevalence of 1:500,000, caused by a variety of mutations in the keratin 2E gene. The clinical features include hyperkeratosis and blistering, but these are milder than in epidermolytic hyperkeratosis. The treatment is symptomatic and involves keratolytics and emollients. Herein, we report a case of SEI with the unusual absence of spontaneous blistering.
Highlights
Epidermolytic hyperkeratosis was originally described histologically by Nikolski in 1987 [1]
Ichthyosis bullosa of Siemens (IBS) is a milder variant of this condition, which is designated as superficial epidermolytic ichthyosis (SEI)
The flexures showed visible hyperkeratosis with a typical rippled pattern and there was peeling of normal skin on the trunk without any erythema (“Mauserung” phenomenon) (Figs. 1 and 2)
Summary
Epidermolytic hyperkeratosis was originally described histologically by Nikolski in 1987 [1] It is an autosomal dominant disorder, 50% of cases may be sporadic due to spontaneous mutations [2]. Ichthyosis bullosa of Siemens (IBS) is a milder variant of this condition, which is designated as superficial epidermolytic ichthyosis (SEI). It is distinguished clinically from epidermolytic hyperkeratosis by the absence of erythroderma, the localization of dark grey hyperkeratosis in the flexures, and areas of peeling skin, known as the “Mauserung phenomenon” [3]. The flexures showed visible hyperkeratosis with a typical rippled pattern and there was peeling of normal skin on the trunk without any erythema (“Mauserung” phenomenon) A topical emollient is the last resort, with 0.05% tazarotene gel showing a satisfactory result in a recent report [9]
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