Restrictive dermopathy: report of a case and review of the literature.

BACKGROUND: Restrictive dermopathy is a rare autosomal recessive skin disorder that is fatal in the neonatal period. Clinical and pathologic findings are distinctive and allow for a specific diagnosis in most cases. METHODS: We present a case of an affected infant and a review of the previously reported cases in the literature. RESULTS: The infant had thick shiny skin with reduced compliance and multiple spontaneous linear splits. Additional findings included an abnormal facies with a distinctive small, round and open mouth, low set ears, small nose, widely spaced sutures, flexion contractures of the extremities, and poorly expanded lungs. The infant expired 65 h after birth. Histologic findings of the skin at autopsy included a relatively unremarkable epidermis, a flat dermal-epidermal junction (absent rete ridges), an overall thinned dermis with hypoplastic appendage structures, a dense fibrotic reticular dermis with collagen parallel to the epidermis, a sharp subcutaneous margin, and an abnormally thick layer of subcutaneous adipose tissue. Electron microscopic findings included dense dermal patches of collagen and fibroblasts with abundant endoplasmic reticulum and unusually small tonofilaments. Review of previously reported cases reveals strikingly consistent findings. CONCLUSIONS: This rare condition illustrates that abnormal cutaneous development may produce fetal hypokinesia, leading to profound effects on intrauterine growth and development. The autosomal recessive pattern of inheritance and morphologic changes of the skin and skeletal system in this disorder suggest that a structural protein or enzyme defect, perhaps of collagen metabolism, may underlie the pathogenesis.

Pulmonary granular cell tumor coexisting with bronchogenic carcinoma.

Pulmonary granular cell tumors (GCTs) are uncommon and predominantly benign. The coexistence of GCTs with bronchogenic carcinoma is rare. We report three cases of GCT occurring simultaneously with a primary bronchogenic carcinoma. In one case mucoepidermoid carcinoma was seen colliding with a bronchial submucosal GCT. In another case an endobronchial GCT was seen beneath squamous cell carcinoma in situ and adjacent to invasive squamous carcinoma. In the third case a central bronchial GCT was identified concurrently with a peripheral adenocarcinoma. We suggest that the presence of a GCT should prompt adequate sampling to rule out the coexistence of bronchogenic carcinoma. Clinical awareness and complete evaluation for a malignant primary lung tumor will lead to more appropriate therapy. Ann Diagn Pathol 5:74-79, 2001.

A fatal case of pancreatic panniculitis presenting in a young patient with systemic lupus.

BACKGROUND: Subcutaneous fat necrosis associated with pancreatic disease is a rare event. The clinical cutaneous findings are non-specific erythematous nodules with central softening located predominantly on the lower extremities. The histopathologic features of these lesions are very characteristic and diagnostic. METHODS: We present an unusual case of pancreatic panniculitis associated with lupus pancreatitis in a 21-year-old African American female. The patient presented with lower extremity skin nodules, arthralgia, and serositis prior to the diagnosis of systemic lupus and pancreatitis. The skin lesions progressed despite normalization of serum pancreatic enzymes. Following femoral vein catheterization for renal dialysis, she developed a large indurated area over the left lower quadrant, flank, groin, and upper thigh measuring 25 cm. She was treated with repeated debridement, tissue grafts, and hyperbaric oxygen because of a clinical suspicion of necrotizing fasciitis. RESULTS: Examination of skin biopsies and debrided tissue revealed the pathognomonic features of pancreatic panniculitis without any evidence of necrotizing fasciitis. Organisms were not detected by tissue examination or microbiologic cultures. CONCLUSIONS: This case illustrates the potential role of vascular trauma in the pathogenesis of pancreatic panniculitis.

Immunohistochemical characterization of thyroid gland angiomatoid tumors.

The histogenesis of thyroid gland angiomatoid tumors, probably as a primary angiosarcoma, has been a controversy for many years. These tumors may be variants of undifferentiated (anaplastic) carcinomas. We report a thyroid gland angiomatoid carcinoma in a 61-year-old African American male. The tumor had a heterogeneous pattern with both sarcomatous and epithelioid areas. Tumor cells lined some vascular-like spaces and others had intracytoplasmic lumens containing red blood cells. The tumor cells were found to express multiple endothelial (factor VIII-related antigen, CD31, CD34, and Ulex europaeus I lectin) and epithelial (cytokeratin and epithelial membrane antigen) markers as well as thyroglobulin by immunohistochemistry. This rare presentation demonstrates the heterogeneous nature of thyroid gland angiomatoid carcinoma with both epithelial and endothelial differentiation.

Immunohistochemical characterization of pleomorphic giant cells in basal cell carcinoma.

Over 20 cases of basal cell carcinomas with pleomorphic giant cells of the mononuclear or multinucleate type have been described. The nature of these cellular and nuclear changes has not been elucidated. Some authors found that these cells have phagocytic properties and others reported an aneuploid DNA content. We have seen mitotic figures in some of these giant cells, and postulate that these cells are capable of proliferation. Twelve cases of basal cell carcinoma with pleomorphic giant cells were examined using monoclonal antibodies recognizing the proliferating cell nuclear antigen (PCNA), Ki-67, and bcl-2 antigens. Expression of proliferation associated antigens in the giant cell population was higher than in the small cell population. Over expression of bcl-2 was detected in both the small and giant cells in all cases. The results demonstrate that the giant tumor cells are cycling and express bcl-2 protein in a manner consistent with basal cell carcinoma. The changes are unlikely to represent a senescent change as seen occasionally in mesenchymal neoplasms.

Atypical findings of protein studies using capillary zone electrophoresis.

We present two atypical cases of protein studies that were evaluated by immunofixation and immunosubtraction using capillary zone electrophoresis and high-resolution agarose gel electrophoresis. The first study showed an abnormal peak in the beta region by capillary zone electrophoresis that was located in the gamma region of the high-resolution agarose gel electrophoresis. Further investigation showed that this monoclonal protein was displaced due to binding with beta-lipoproteins. In the second case, a large peak was detected in the alpha-2 region and was shown by capillary zone electrophoresis to be a non-proteinaceous material that mimicked a paraprotein.

Cytochrome oxidase in the human visual cortex: distribution in the developing and the adult brain.

Cytochrome-oxidase (CO) histochemistry has revealed important functional subdivisions, modules, and processing streams in the macaque visual cortex. The present study is aimed at analyzing the development and characteristics of CO patterns in the human visual cortex by means of histochemistry and immunohistochemistry. At 26 weeks of gestation, both the ventricular and subventricular zones had low levels of CO, while the cortical plate had moderate levels of CO. At birth, supragranular CO-rich zones (puffs) were not clearly organized, indicating that the development of puffs in the neonatal striate cortex lags behind that of the macaque monkey, whose puffs appear weeks before birth. Puffs were more clearly discernible in human cortex at postnatal day 24, and became well organized by the fourth postnatal month. Layer IVc alpha in the neonate exhibited a higher level of activity and amount of CO than the central portion of IVc beta, which contained a dense aggregate of small neurons. The base of IVc beta, however, was often as CO reactive as IVc alpha. In contrast, the majority of specimens available to us from the fourth postnatal month and from adults with no known neurological diseases had significantly greater CO reactivity in layer IVc beta than in IVc alpha. Layer VI was moderately reactive for CO throughout development. In V2, stripes with globular zones of high CO activity were sporadically present at birth, suggesting that their development may parallel or precede that of puffs in V1. These stripes with CO-rich globular zones became more prominent in the adult and radiated orthogonally from the V1/V2 border. They were not, however, clearly organized into alternating thick and thin stripes as they are in the squirrel monkey. Visual cortical areas beyond V2 exhibited high CO activity mainly in layers III and IV and moderate levels in VI, suggesting that sites associated with cortico-cortical pathways may be metabolically most active.

Immunoglobulin-containing cells in chick embryo urogenital tissues: a new site for early B lineage cells in endothermic vertebrates.

We have employed histological and immunofluorescent staining procedures in order to characterize the distribution of mu + B lineage cells in tissue sections prepared from developing chicken embryo urogenital tissues (UGTs) between 14 and 21 days of incubation. B lineage cells were observed in tissue sections prepared from developing UGTs, especially the mesonephros and its associated tissue, throughout the sample period. The highest densities of mu + B lineage cells were observed in tissue sections prepared from 18 day embryos. The mu + UGT cells were distributed singly and in clusters in subcapsular regions and within the peritubular interstitium of the mesonephros. These observations (1) are consistent with those which suggest nonbursal site(s) for origin of cells in B lineage, (2) may help account for the varying effects of embryonic caudectomy performed between the second and third days of incubation and surgical bursectomy performed close to hatching, (3) may help provide new insights on the effects of sex hormones on B cell development, and (4) suggest fundamental ontogenetic and phylogenetic similarities between developing vertebrate immune systems.