Ichthyosis prematurity syndrome mimics keratitis ichthyosis deafness syndrome at birth: Use of electron microscopy and genetic testing
Ichthyosis prematurity syndrome (IPS) is an autosomal recessive ichthyosis characterized by prematurity, respiratory distress, and neonatal skin desquamation. The skin at birth is often erythrodermic, with striking desquamation of the epidermis that resembles vernix caseosa. Neonatal asphyxia can be fatal. Once the critical newborn period has passed, prognosis is excellent. At birth, dermatologic and histologic features of IPS closely overlap with those of keratitis ichthyosis deafness (KID) syndrome, an autosomal dominant disorder that ultimately has a much different prognosis. KID syndrome is associated with the eventual development of potentially blinding keratitis and neurosensory deafness. A timely diagnosis is essential for advising new parents. Here, we describe the use of electron microscopy and genetic testing to distinguish these disorders before hearing and vision changes become obvious. Report of a case
International journal of dermatology