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Ichthyotic disorders
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Ichthyosis prematurity syndrome (IPS) is an autosomal recessive disorder with neonates born more than 6 weeks prematurely. It is caused by mutation in the solute carrier family 27 member 4 SLC27A4 gene/fatty acid transport protein 4 (FATP4). At birth there is thick, spongy desquamating skin that resembles vernix caseosa, which is accentuated more on the scalp and eyebrows. Later in the neonatal period, there is moderate erythroderma with scaling resembling a cobblestone appearance. Associated features include polyhydramnios, neonatal respiratory distress, peripheral eosinophilia, atopic dermatitis, dermographism, food allergy, and asthma.
Clinical considerations when treating neonatal aspiration syndromes
Published in Expert Review of Respiratory Medicine, 2019
Andrea Calkovska, Daniela Mokra, Vladimir Calkovsky, Katarina Matasova, Mirko Zibolen
Another rare condition leading to aspiration syndrome is congenital ichthyosis, which is a part of ichthyosis prematurity syndrome (IPS). It presents with skin changes at birth, ultrastructural abnormalities of the epidermis, and extracutaneous manifestations [52]. Prenatally, IPS is characterized by ultrasound findings of polyhydramnios, separation of chorionic and amniotic membranes, with an appearance of echo-free fluid in the chorionic cavity, and echogenic amniotic fluid [53]. The amniotic fluid may contain an abnormally high concentration of desquamated epithelial cells [54], which may enter the fetal respiratory tract either in utero during physiological fetal respiratory movements or at birth by gasping initiated due to fetal distress. Inhalation of such amniotic fluid is manifested by life-threatening neonatal asphyxia based on atypical pulmonary aspiration syndrome [54]. The severity of lung disease is correlated with the severity of ichthyosis: the diagnosis is made by clinical or radiological findings. Cytological analysis of broncho-alveolar lavage fluid reveals a high ratio of squamous cells [55], and keratin debris can be observed to fill the bronchial tree and alveoli at postmortem examination [52].