The Comèl-Netherton Syndrome

Abstract

In 1949, the Italian dermatologist Comel [7] from Pisa delineated a new type of congenital ichthyosis. He reported on a 23-year-old woman suffering from an ichthyosis-like dermatosis characterized by migratory, serpiginous skin lesions showing double-edged scales. Comel recognized that this was a new skin disorder and coined the term “ichthyosis linearis circumflexa”. Nine years later, Netherton [22] described a 4-year-old girl suffering from congenital ichthyotic erythroderma and a characteristic hair shaft abnormality which he called “bamboo hair”. In 1964 Wilkinson and his associates [30] reported a similar case and introduced the term “trichorrhexis invaginata” for the peculiar hair shaft abnormality. Furthermore, they suggested that atopic diathesis is an additional symptom and referred to the association of congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis as “Netherton’s syndrome”. In 1968, Schnyder and Wiegand [23] first described trichorrhexis invaginata in two patients suffering from ichthyosis linearis circumflexa. Over the next few years, it became obvious that in most cases reported as Netherton’s syndrome the ichthyosis corresponded to ichthyosis linearis circumflexa (ILC) as described by Comel, while only a very few cases showed generalized involvement with congenital ichthyotic erythroderma (CIE) [19]. For historical reasons, I think it most appropriate to refer to the syndrome of congenital ichthyosis with trichorrhexis invaginata as the “Comel-Netherton syndrome”. The nature of the ichthyosis in this syndrome has been the subject of a considerable debate, raising the question of whether the Comel-Netherton syndrome is a heterogeneous condition [1, 15, 19]. We recently argued that the Comel-Netherton syndrome can encompass a broad clinical spectrum and should be viewed as a singular disease [27, 28]. Moreover, I strongly suspect that the peeling-skin syndrome type B is identical with the Comel-Netherton syndrome. This issue is discussed below in Sect. 6.5.4.