P8.107 NETHERTON´S DISEASE IN TWO SIBLINGS-A FIVE YEAR FOLLOW UP

Mandt N, Vieten J, Zappel K, Blind S , Blume-Peytavi U

Department of Dermatology, CCM, Charité Universitätsmedizin Berlin, Berlin, Germany

Netherton´s syndrome is a rare disorder that consists of the triad: ichthyosiform dermatosis, pathognomonic trichorrhexis invaginata, and atopic diathesis.

We report two sisters who displayed at birth a generalized ichthyosiform erythroderma. Within the first few days of life both developed progressive hypernatremic dehydration. The erythroderma was followed by ichthyosiform, eczematous lesions, pruritus and diffuse alopecia.  One girl developed septicaemia, which was followed by an outer ear tube infection: the burden of infections became too great and she succumbed to them in her first year of life.

Laboratory findings showed elevated IgE, histology of the involved skin were consistent with ichthysosis.. Light microscopy of hair shafts was normal at birth. Repeated analysis in the first year of life revealed typical thrichorrhexis invaginata (“bamboo hair”).

The disease locus was recently mapped to chromosome 5q32. The SPINK5 gene is found to be a candidate gene for this syndrome. Nevertheless, occurrence in siblings is rare.

Infants with Netherton´s syndrome are at risk to develop progressive hypernatremic dehydration and concomitant infections. Typically, diagnosis is delayed until the appearance of a pathognomonic hair shaft anomaly. Early histological diagnosis should be made in order to prevent fatal complications and repeated analysis of the hair shaft should be performed during the first few years of life. Systemic treatments are limited by the chronic course of the disease. Low dose therapy with acitretin (0.25-0.5 mg/kg) may be followed by improvement in hair and skin conditions. Hair care with mild shampoos and hair sparing combs are recommended. Little is known about skin physiology in Netherton´s syndrome. Improvement of skin barrier properties should be the focus of therapeutic approaches. Use of water-in-oil emollients with 12 % lactic acid or 5 % urea may stabilize barrier conditions. Treatments improving barrier function may reduce the likelihood of further aggravation of the disease as shown in our case.