Mutations of CIAS1 have recently been shown to underlie familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS), in three families and one family, respectively. These rare autosomal dominant diseases are both characterized by recurrent inflammatory crises that start in childhood and that are generally associated with fever, arthralgia, and urticaria. The presence of sensorineural deafness that occurs later in life is characteristic of MWS. Amyloidosis of the amyloidosis-associated type is the main complication of MWS and is sometimes associated with FCU. In FCU, cold exposure is the triggering factor of the inflammatory crisis. We identified CIAS1 mutations, all located in exon 3, in nine unrelated families with MWS and in three unrelated families with FCU, originating from France, England, and Algeria. Five mutations--namely, R260W, D303N, T348M, A439T, and G569R--were novel. The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes. This result indicates that modifier genes are involved in determining either a MWS or a FCU phenotype. The finding of the G569R mutation in an asymptomatic individual further emphasizes the importance of such modifier a gene (or genes) in determining the disease phenotype. Identification of this gene (or these genes) is likely to have significant therapeutic implications for these severe diseases.

Objective. To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS).Methods. We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test.Results. The study included 133 patients (33 children), 20 with familial cold autoinflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile

Ultrastructural study of a case of sclerosing lipogranuloma showed predominantly histiocytic-like cell infiltrate with numerous intracytoplasmic vacuoles of varied sizes without any limiting membrane and located in the deep dermis and subcutaneous fat. Fibroblasts appeared normal. Polymorphonuclear cells and macrophages were absent. This appearance was different from that described in 'classical' phagocytosis, mucopolysaccharidoses or polyvinylpyrrolidone storage syndrome.

The histological, electron microscopic, and immunological findings in a case of eccrine porocarcinoma are described. The tumors were verrucous, wart‐like lesions and nodules which ulcerated secondarily. They were located on the leg. The patient died in a few months from dissemination of the disease. The tumor examined was epidermotropic and mainly composed of a clear cell proliferation. Ultrastructurally, the cells showed large, nucleolated nuclei, numerous mitochondria, dilated endoplasmic reticulum, single desmosomal plaques, sparse tonofibrils in the perinuclear region, multivesicular dense bodies, and interdigitating cytomembranes. A few dark cells were present. No Langerhans cells, indeterminate dendritic cells or melanocytes were observed. The tumor cells were labeled with KL 1 monoclonal antikeratin antibody. The secretory cells of uninvolved eccrine sweat glands in the close vicinity of the tumor and in the perilesional skin were strongly labeled with D 47 monoclonal antibody reacting with the secretory cells of human eccrine sweat gland, whereas the tumor cells remained unlabeled. Our study results showed that the origin of this tumor was not the secretory portion of the gland but rather its excretory portion.

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