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The ichthyoses are a heterogeneous group of monogenetically inherited disorders of cornification, and characterized clinically by scaling or hyperkeratosis. Historically, they were classified by clinical features and inheritance patterns. As a result of the recent molecular biological revolution, the ichthyoses are now recognized as comprising many diverse entities. Importantly, identical phenotypes may be caused by mutations in multiple genes, while mutations in a single gene may result in multiple and sometimes widely divergent phenotypes. The considerable complexity of this clinically and genetically heterogeneous group of disorders has prompted the need for a new classification. A classification that uses terminology based on a combination of the clinical and molecular genetic details, for instance loricrin keratoderma, is desirable. In this chapter we will use in principle the nosology adopted recently by an international group of experts at the First Ichthyosis Consensus Conference in Sorèz, France.

We report on a patient with AIDS who developed erythema nodosum, an association that has not previously been reported. Extensive clinical and laboratory investigations disclosed no obvious origin of erythema nodosum apart from HIV infection with disseminated Kaposi sarcoma.

A cDNA clone, encoding for a major component of the cornified cell envelope now termed loricrin, was isolated by cross-hybridization with the end domains of keratin 1 and 10. Loricrin is expressed very late in terminal epidermal differentiation in the upper stratum granulosum and is identical to the sulfur-rich component of the single type keratohyaline granule. Moreover, loricrin appears later to become cross-linked by the formation of glutamyl-lysyl-isopeptide bonds and thereby incorporated as a major component into the cornified cell envelope. In vivo, loricrin is expressed in all mammalian stratified epithelia tested so far. However, the highest levels of expression are found in humid tissues such as newborn epidermis, the epithelia of oral and anal mucosa, esophagus, foreskin, vagina and the epidermal parts of sweat ducts.

A pemphigus vulgaris patient with esophageal involvement is presented, and eight well-documented cases from the literature are reviewed. The patient's skin had healed, but she still had acute gastroesophageal symptoms and persisting oral lesions. The antibody titers against intercellular substance were low. She thus presented the "classical" picture of pemphigus vulgaris with esophageal involvement.