Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype Anette Bygum, MD, a Per Westermark, MD, b and Flemming Brandrup, MD a Odense, Denmark, and Uppsala, Sweden Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately after birth he developed respiratory distress and needed intubation. Remarkable skin changes were noticed with universal red, edematous and desquamating, spongy skin giving an impression of excessive vernix caseosa. Marked regression of the edema and ichthyotic scaling was observed within a few weeks. The parents recalled that his elder sister had similar but milder skin changes and respiratory distress syndrome at birth. Ichthyosis prematurity syndrome was suggested and the diagnosis supported by electron microscopy of a skin biopsy specimen showing pathognomonic trilamellar membrane aggregations in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period. ( J Am Acad Dermatol 2008;59:S71-4.) I chthyosis prematurity syndrome (IPS) is a rarely recognized syndrome belonging to the hetero- geneous group of recessive inherited disorders of cornification. We describe the clinical characteris- tics of two Danish siblings with IPS where the diag- nosis was confirmed ultrastructurally by electron microscopy of a skin biopsy specimen. To our knowl- edge, these are the first two patients given the diag- nosis of IPS in Denmark. CASE REPORTS Case 1 The proband was a boy born at gestational week 34 with a birth weight of 2970 g, after an uneventful pregnancy and delivery. The parents were unrelated. Immediately after birth he developed respiratory distress and was intubated for a short time and later treated by continuous positive airway pressure in a neonatal care department for 1 week. Radiography showed bilateral pulmonary infiltrations, possibly a sign of aspiration pneumonia. He had a normal cord blood IgE less than 0.1 kU/L ( \ 0.3) but a peripheral blood smear with eosinophilia of 9% ( \5%) in his newborn period. Remarkable skin changes were noticed at birth in the form of an almost universal red, edematous and desquamating, spongy skin. The hyperkeratosis covering the scalp, face, and upper extremities gave an impression of excessive vernix caseosa (Fig 1). The edema resolved gradually in 1 to 2 weeks but a widespread ichthyotic scaling persisted. The redness faded within the next months but the skin stayed dry with minimal superficial scaling. From the age of 6 months he developed asthma and signs of atopic dermatitis with fine follicular keratoses on his trunk and proximal upper extremities. Normal develop- mental milestones were recorded and the boy was otherwise healthy. A skin biopsy specimen at the age of 2 months examined by electron microscopy showed trilamel- lar lamellae in swollen corneocytes in stratum cor- neum and stratum granulosum characteristic of ichthyosis congenita type IV (Fig 2). Case 2 The parents could tell that his 4-year-old sister presented strange reptilelike skin changes at birth, especially at the distal extremities (Fig 3, A) and transient respiratory distress syndrome treated in a pediatric care department, which was elucidated retrospectively through a survey of the case notes. She was a twin born at gestational week 33 with a birth weight of 1587 g (the dizygotic twin had a birth weight of 2199 g). At birth her skin was described as dry and ichthyotic. It was noticed that the amniotic fluid was greenish discolored in an unusual way. Because of respiratory insufficiency she was intu- bated and treated on a respirator for 2 days and after From the Department of Dermatology, Odense University Hospital, a and Department of Genetics and Pathology, Uppsala University. b Funding sources: None. Conflicts of interest: None declared. Reprint requests: Anette Bygum, MD, Department of Dermatology, Odense University Hospital, 5000 Odense C, Denmark. E-mail: anette.bygum@ouh.regionsyddanmark.dk. 0190-9622/$34.00 ª 2008 by the American Academy of Dermatology, Inc. doi:10.1016/j.jaad.2008.06.014 S71