Porokeratosis represents a group of disorders of epidermal keratinization which are characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted parakeratotic cells. The aetiology of porokeratosis is still unclear. This review summarizes the currently available data on the pathophysiology of this condition and discusses the clinical variants and the currently available therapies.

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We describe three unrelated girls who had an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. All three girls had severe complications after viral infections, including B-cell lymphoma associated with Epstein-Barr virus (EBV). Other findings were hypogammaglobulinemia, a diminished number of T and B cells, and sparse thymic tissue on ultrasonography. Molecular analysis revealed that the patients were compound heterozygotes for mutations in recombination activating gene 1 or 2 (RAG1 or RAG2). In each case, both parents were heterozygous carriers of a RAG mutation. The mutations were associated with reduced function of RAG in vitro (3 to 30% of normal activity). The parents and one sibling in the three families were healthy.

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