SEVERE CONGENITAL GENERALIZED EXFOLIATIVE ERYTHRODERMA IN NEWBORNS AND INFANTS - A POSSIBLE SIGN OF NETHERTON SYNDROME

We examined skin biopsy specimens from 17 of 19 newborns or infants wi th generalized ichthyosiform, exfoliative, seborrheic, or psoriasiform erythroderma. The specimens showed similar characteristic but nonspec ific and therefore, at first sight, uninformative histologic features. Morphologically, the skin was affected overall with a persistent outb reak of eczema-like eruptions of subacute or chronic dermatitis. Prono unced dermal inflammatory processes were obvious by their perivascular and interstitial presence as well as exocytosis of lymphocytes, macro phages, and neutrophils. Epidermal barrier function was impaired by th e highly suppressed terminal differentiation, with thin or in part com pletely absent stratum corneum, decrease of keratin filaments, decreas e or lack of keratohyalin granules, and of keratinosomes containing st acks of lipid membranes. As a result, the formation and discharge of e pidermal barrier lipids from the keratinosomes that normally provide i ntercellular lamellar sheets at the granular-horny layer interface con tributing to the epidermal barrier, was highly disturbed. The concomit ant loss of water, electrolytes, and proteins by fluid exudation cause d the patients severe metabolic problems and recurrent infections. The suspicion of Netherton syndrome was eventually confirmed in 18 patien ts by light microscopic demonstration of bamboo hairs (trichorrhexis i nvaginata), mostly from the scalp, but also in vellus hairs and eyelas hes. Atopy actually belongs to the symptom triad defining Netherton sy ndrome and is, in our opinion, primarily responsible for the pathologi c events within the skin and of the keratinizing parts of the growing hair shafts. Differential expression of the atopic condition determine s the appearance of the keratinization disorder of the skin, namely, s evere, generalized, exfoliative erythroderma or milder forms of ichthy osis linearis circumflexa Comet. Retinoid treatment seems to be contra indicated in these conditions since their biopharmacologic effects inv olve suppression of terminal differentiation, which is the proper path ognomonic event. In six patients the condition had a fatal course with in months because of hypernatremia, recurrent infections, failure to t hrive, and sepsis. Our aim is to call attention to and reaffirm that i n congenital or early infantile cases of generalized exfoliative eryth roderma, Netherton syndrome should be suspected as the underlying dise ase.