This article reports about a preterm female infant who was born as a collodion baby. The collodion phenotype was based on congenital ichthyosiform erythroderma, which was caused by two compound heterozygote mutations in the ALOX12B gene. Due to intensive care treatment including skin care management, high environmental humidity, isolation in an incubator under sterile conditions, forced parenteral volume and nutritional management, the skin lesions greatly improved. There is even a possibility that the patient was a so-called self-healing collodion baby. The disruption of the skin barrier provokes a high risk of dehydration, infections and severe wound healing defects in newborn babies with ichthyosis. It is therefore essential that the pediatrician makes an early diagnosis and rapid initiation of interdisciplinary therapy, especially because a prenatal diagnosis by ultrasound is not possible; therefore, genetic counseling of the parents is very important for further family planning.
|Translated title of the contribution||Congenital ichthyosiform erythroderma: Not a common skin manifestation|
|Journal||Monatsschrift fur Kinderheilkunde|
|Number of pages||5|
|Publication status||Published - 01.06.2017|
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)