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Updated: Jun 8, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
[Incontinentia pigmenti (Bloch-Sulzberger syndrome)]
E Mühlenstädt1, S Eigelshoven, N P Hoff
1Hautklinik des Universitätsklinikums Düsseldorf, Moorenstr. 5, 40225, Düsseldorf.
Abstract:
A female infant, aged two weeks, presented with linear erythematous crusted papules, plaques and blisters on the right leg which had occurred two days after birth. Histological examination revealed typical features of incontinentia pigmenti in the inflammatory stage. Incontinentia pigmenti is a rare X-linked dominant genodermatosis caused by mutations in the NEMO gene located at Xq28 affecting the skin, different organ systems, the central nervous system, eyes, teeth and skeleton with variable expression. We summarize important clinical and diagnostic aspects of incontinentia pigmenti as well as its genetic and molecular basis.
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