Ichthyosis bullosa of Siemens

Abstract

Mutations in the different keratin genes have been shown to underlie a wide range of disorders of keratinization. Epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens are distinct disorders with mutations in different genes. Although molecular genetic testing should ideally be done for confirmation of diagnosis, ichthyosis bullosa of Siemens could be diagnosed in this patients based on key clinical characteristics.

Recalcitrant psoriasiform dermatosis of the face: Is it related to pityriasis rubra pilaris?

“…The manifestation of abnormal keratinization as vacuolation of keratinocytes has been seen in epidermolytic hyperkeratosis and superficial epidermolytic ichthyosis (formerly known as ichthyosis bullosa of Siemens). In the latter, prominent vacuolization of the granular cell layer occurs, attributed to abnormal keratinization arising from a mutation in the keratin 2E gene . In cases of PRP, an abnormal granular layer with increased numbers of coarse, irregularly shaped keratohyaline granules with perinuclear clearing, reminiscent of incipient and fully evolved epidermolytic hyperkeratosis have been reported.…”

Superficial epidermolytic ichthyosis: A rare disorder with the unusual absence of blistering

“…Although the diagnosis may be confirmed only by molecular genetic testing, a clinical examination helps to differentiate bullous ichthyosiform erythroderma from SEI [10]. The typical pathological findings are compact hyperkeratosis, pronounced vacuolar degeneration in the upper stratum spinosum and stratum granulosum, filament clumping, and a thickened granular layer with irregularly shaped keratohyaline and acantholysis [1].…”

Generalized blistering and erythroderma in a young girl

“…Peripheral superficial peeling of the skin, also known as the “mauserung” phenomenon (Figure 3), is highly classic of the condition and is named as such in view of the appearance of spontaneous “molting” of the skin. SEI, like most keratinopathic ichthyoses, tends to blister less as the patient age, while the hyperkeratosis becomes more prominent 2 . Biopsy of lesional skin often reveals superficial epidermolysis and hyperkeratosis.…”

“…Treatment of SEI is aimed at relieving symptoms of dryness and peeling, 2 through liberal use of emollients and keratolytics, such as urea and alpha hydroxy acids. Topical retinoids have been used in patients to help reduce scaling and hyperkeratosis, though a lack of evidence to prove the superiority of any particular therapy is noted 9 …”