Een neonaat met een strakke huid

A. C. M. Kool, M. Houtappel, L. H. P. M. Filippini

Research output: Contribution to journalArticleProfessional


A newborn had a tight, dry skin with multiple fissures, an eclabium and ectropion. Breathing was compromised and regulation of body temperature was impaired. We described the patient as a 'collodion baby'. After genetic investigation the diagnosis congenital ichtyosis, recessive type 1 was made. At 12 months of age, the skin symptoms were significantly diminished.
Original languageDutch
Pages (from-to)D190
JournalNederlands Tijdschrift voor Geneeskunde
Publication statusPublished - 2016

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