Connective tissue nevi: an entity revisited.

BACKGROUND: Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. Few publications have addressed the variable clinical and histopathologic expression of these benign hamartomas. OBJECTIVE: We sought to characterize the clinical and histopathologic features of CTN and to highlight a spectrum of clinical disease. METHODS: We carried out a retrospective study of cases selected after strict clinical and histopathologic confirmation of the diagnosis. RESULTS: A total of 33 patients with CTN were included. The average age of onset was 2 years. Three clinical forms were distinguished: type A with lesions at a single site, with one case presenting as an ulcerated infiltrated plaque; type B with two or more sites of involvement; and type C with unusually severe infiltration with functional impairment of a limb. Histopathologic examination of lesional biopsy specimens showed 10 collagenomas, one elastoma, 18 mixed CTN, and an increased number of fibroblasts in 4 cases. No correlation between clinical type and histopathologic findings was observed. LIMITATION: This was a descriptive case series. CONCLUSIONS: CTN comprise a clinical spectrum ranging from isolated papules to unusually severe aggressive plaques with monomelic involvement. The histopathologic features are heterogeneous and include a newly described variant, which we name "cellular CTN" because of the increased number of fibroblasts.

Fibroblastic rheumatism: fibromatosis rather than non-Langerhans cell histiocytosis.

BACKGROUND: Fibroblastic rheumatism is a unique fibro-proliferative disease affecting the skin and joints. It is characterized by distinctive clinical and histological features related to benign spindle-shaped cells proliferation. Pediatric reports are scarce in the literature. OBJECTIVE: We describe here a new case in a 10-year-old boy and discuss the potential origin of the cell proliferation. METHODS: Clinical findings, radiology, microscopic examination and outcome are reviewed. Histopathology and immunochemistry studies were performed on skin biospies using CD68, CD163, desmin, factor XIIIa, CD34, smooth muscle actin, PS100, epithelial membrane antigen, and calponin. RESULTS: Histological sections disclosed a rather circumscribed nonencapsulated nodular infiltrate, invading the dermis and the upper subcutaneous tissue, consisted of a proliferation of spindle or stellate-shaped cells and thickened collagen fibers. Orcein staining showed disappearance of the elastic network. Aponeurosis and muscle were normal. A mild perivascular lymphohistiocytic infiltrate was noted. Calponin-staining was less strongly expressed as SMA, and some of them but not all were CD68 positive, as well. On the other hand, all were CD34, CD163, FXIIIa, PS100, EMA and desmin-negative. CONCLUSION: The true origin of these cells remains unclear. Some authors have speculated a histiocytic origin. However, immuno-chemical staining in our case failed to confirm this hypothesis and instead supported a fibroblastic/myofibroblastic origin. Given the clinical course and the histological and immunohistochemical results, we suggest that FR should be added to the group of fibromatoses.

A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.

OBJECTIVE: To describe a novel syndrome characterized by severe prenatal and postnatal growth failure, mild skeletal and facial abnormalities, and primary immunodeficiency. DESIGN: The syndrome was observed in 2 sisters. The elder child died of cytomegalovirus infection when she was 18 months old, whereas the younger sister is doing well at 5 years old. We report here clinical, hematologic, and immunologic data for both sisters and compare them with all known inherited disorders with similar clinical or immunologic features. RESULTS: The immune defect consists of a lack of detectable natural killer cells and small numbers of CD8 alphabeta T cells and polymorphonuclear neutrophils. This is the first report of prenatal and postnatal growth failure associated with mild skeletal and facial abnormalities and primary immunodeficiency. CONCLUSION: This novel syndrome probably is caused by an autosomal recessive gene defect impairing both intrauterine growth and natural killer cell development. The identification of other kindreds with this syndrome would facilitate the search for its genetic basis.

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system involvement, and arthropathy. In the present study, we report, in seven unrelated patients with CINCA syndrome, distinct missense mutations within the nucleotide-binding site of CIAS1, a gene encoding cryopyrin and previously shown to cause Muckle-Wells syndrome and familial cold urticaria. Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated. A high level of expression of CIAS1 was found to be restricted to polymorphonuclear cells and chondrocytes. These findings demonstrate that CIAS1 missense mutations can result in distinct phenotypes with only a few overlapping symptoms and suggest that this gene may function as a potential inducer of apoptosis.