Abstract
Netherton syndrome is a rare, autosomally recessive genodermatosis characterized by the trias of congenital ichthyosis, hair abnormality and atopic diathesis. Recently, we experienced 4 pediatric cases whose ages ranged from 6 days to one year and a month. The patients developed generalized scaly erythroderma at or soon after birth, and were referred to our outpatient clinic, which is specific for keratinization disorders. Because all the patients presented generalized diffuse erythema and desquamation at birth, they were initially diagnosed with congenital (non-bullous) ichthyosiform erythroderma. In these patients, the face and head was notably covered by thick seborrheic scales during the neonatal period. However, the erythema and desquamation subsequently resolved during early infancy, and scaly erythema became localized primarily to the seborrheic and intertriginous areas. Hair abnormality and increased serum IgE were not detectable in two of 4 patients at 3 months after birth ; however, these symptoms appeared later during a follow-up period. Skin biopsy samples showed premature hyper-shedding of the stratum corneum cells. In addition, increased trypsin-like hydrolytic activity of the stratum corneum was revealed in all of the patients. This method seemed to be useful for the initial screening of NS. DNA analysis of the SPINK5 gene was also done and revealed mutations in two of the 4 patients. Together with the clinical and laboratory findings, we diagnosed all the patients as suffering from Netherton syndrome (NS). In this report, we summarized the clinical courses and laboratory findings in these patients with NS, and discussed their dermatological treatments and lifestyle guidance (i.e., skin care).
