caa a22 4500 465772927 CHVBK 20180323111934.0 cr unu---uuuuu 170327e19900101xx s 000 0 eng 10.1007/BF00505636 doi (NATIONALLICENCE)springer-10.1007/BF00505636 Ichthyosis bullosa of Siemens: Further delineation of the phenotype [Elektronische Daten] [P. Steijlen, C. Perret, J. Schuurmans Stekhoven, D. Ruiter, R. Happle] Summary: We report a third family affected with ichthyosis bullosa of Siemens, and we further delineate the clinical spectrum of this mild type of epidermolytic hyperkeratosis. Erythroderma had never been present in any of the affected individuals. All of them exhibited a brownish, rimpled hyperkeratosis, the main characteristic sites being the joints, the shins and the periumbilical region. Blistering occurred after slight mechanical trauma and even after sweating, resulting in superficially denuded areas. Two affected family members also suffered from chronic, relapsing pustular eruptions surrounded by a transient erythematous flare. Light- and electron-microscopic examination revealed epidermolytic hyperkeratosis limited to the upper part of the epidermis. The pustular lesions were found to be subcorneal blisters filled with neutrophils. Ichthyosis bullosa of Siemens can be clearly distinguished from bullous ichthyosiform erythroderma. The observation of subcorneal pustular dermatosis occurring in this phenotype provides further evidence for the genetic heterogeneity of epidermolytic hyperkeratosis. Springer-Verlag, 1990 Ichthyosis bullosa of Siemens nationallicence Epidermolytic hyperkeratosis nationallicence Subcorneal pustular dermatosis nationallicence Steijlen P. Department of Dermatology, University of Nijmegen, Nijmegen, The Netherlands aut Perret C. Department of Dermatology, University of Nijmegen, Nijmegen, The Netherlands aut Schuurmans Stekhoven J. Department of Pathology, University of Nijmegen, Nijmegen, The Netherlands aut Ruiter D. Department of Pathology, University of Nijmegen, Nijmegen, The Netherlands aut Happle R. Department of Dermatology, University of Nijmegen, Nijmegen, The Netherlands aut Archives of Dermatological Research Springer-Verlag 282/1(1990-01-01), 1-5 0340-3696 282:1<1 1990 282 403 https://doi.org/10.1007/BF00505636 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00505636 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Steijlen P. Department of Dermatology, University of Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Perret C. Department of Dermatology, University of Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Schuurmans Stekhoven J. Department of Pathology, University of Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Ruiter D. Department of Pathology, University of Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Happle R. Department of Dermatology, University of Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 773 0- Archives of Dermatological Research Springer-Verlag 282/1(1990-01-01), 1-5 0340-3696 282:1<1 1990 282 403 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer