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Biomedical subjects

C Camisa

Publications and source records attributed to C Camisa.

At least 19 recordsLinked to original sources
PubMed1996

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Terminal keratinocyte differentiation involves coordinated expression of several functionally interdependent genes, many of which have been mapped to the epidermal differentiation complex (EDC) on chromosome 1q21. We have identified linkage of Vohwinkel's syndrome in an extended pedigree to markers flanking the EDC region with a maximum multipoint lod score of 14.3. Sequencing of the loricrin gene revealed an insertion that shifts the translation frame of the C-terminal Gly- and Gln/Lys-rich domains, and is likely to impair cornification. Our findings provide the first evidence for a defect in an EDC gene in human disease, and disclose novel insights into perturbations of cornified cell envelope formation.

Amino Acid Sequence↗
PubMed1996

Coexistence of superficial pemphigus and psoriasis.

We describe a case of the coexistence of psoriasis and pemphigus erythematosus. The coexistence of these two diseases may be more than coincidental: the effects of one immune-mediated skin disease may influence the occurrence of another. Possible mechanisms include antigen modification, altered regulation of T-cell activity, and plasminogen activator abnormalities.

Anti-Inflammatory Agents↗
PubMed1996

Familial leiomyomata.

The autosomal dominant inheritance of multiple piloleiomyomas has been previously described. This is a report of two such cases, along with a brief review of the diagnosis, classification, and treatment of the cutaneous leiomyomas.

Diagnosis, Differential↗
PubMed1996

Early onset pretibial myxedema in the absence of ophthalmopathy: a morphologic evolution.

Pretibial myxedema (PTM) is an uncommon, late manifestation of Graves' disease. It is nearly always preceded by significant ophthalmopathy and classically presents as nonpitting (brawny) edema of the lower extremities. We report a case of PTM that is unusual because of its morphologic evolution, that it occurred prior to the diagnosis of Graves' disease, and in the absence of ophthalmopathy.

Graves Disease↗
PubMed1995

Treatment of severe psoriasis with systemic drugs.

Psoriasis, a common papulosquamous skin disease of unknown cause, affects 2% of the U.S. population with 150,000-200,000 new cases annually. Systemic drug treatment of severe psoriasis includes retinoids, methotrexate, cyclosporine, hydroxyurea, sulfasalazine, and calcitriol. It is important for dermatology nurses to understand the effects of these medications when treating patients who have severe psoriasis.

Drug Monitoring↗
PubMed1994

Lichen planus associated with neoplasia: a cell-mediated immune response to tumor antigens?

BACKGROUND: Individual case reports have suggested an occasional association of lichen planus with internal malignancy. OBJECTIVE: Our purpose was to describe five patients with a neoplastic disease in whom lichen planus developed. METHODS: Serologic and immunopathologic studies were conducted. RESULTS: No evidence of autoantibody production characteristic of paraneoplastic pemphigus was found, and antibodies reactive with basal cell keratinocytes were not detected. CONCLUSION: Lichen planus may be rarely induced by neoplasia. A cell-mediated immune reaction possibly causes this phenomenon.

Adenocarcinoma↗
PubMed1994

Necrolytic migratory erythema: a report of three cases.

Necrolytic migratory erythema (NME) is a cutaneous reaction pattern with specific histopathologic features that is typically associated with a functioning pancreatic islet cell neoplasm such as a glucagonoma. Three examples of NME, each associated with a different cause, are presented: glucagonoma, pancreatic insufficiency, and gluten-sensitive enteropathy. All three patients were successfully treated by surgical resection of the pancreatic tumor, total parenteral nutrition and pancreatic enzyme replacement, or a strict gluten-free diet, respectively. All remain free of skin disease more than 2 years later. Any patient with NME should be evaluated for glucagonoma and small bowel disease that may be associated with malabsorption and malnutrition.

Adult↗
PubMed1994

Pustular mycosis fungoides.

The clinical presentations of cutaneous T-cell lymphoma (mycosis fungoides) are quite variable. Atypical manifestations of cutaneous T-cell lymphoma include bullous, granulomatous, hypopigmented, verrucous, and pustular variants. We report a patient who had a psoriasiform dermatitis of the palm and soles which showed pustulation.

Combined Modality Therapy↗
PubMed1994

Ulcerative and oral lichen planus associated with sicca syndrome and primary biliary cirrhosis.

The following case report supports the hypothesis that the coexistence of lichen planus, primary biliary cirrhosis, and sicca syndrome is not co-incidental. The fact that all three diseases are manifest in the same patient substantiates a theory of pathogenesis based on a cell-mediated immune response analogous to that in allogeneic bone marrow transplant recipients with chronic graft-versus-host disease.

Aged↗
PubMed1993

Paraneoplastic pemphigus. A distinct autoimmune vesiculobullous disorder associated with neoplasia.

A vesiculobullous disease termed paraneoplastic pemphigus with distinct autoantibodies was newly described in 1990. All reported cases have occurred in patients with a history of neoplasia, including lymphoma, chronic lymphocytic leukemia, poorly differentiated sarcoma, and benign thymoma. As in pemphigus vulgaris, intraepithelial clefts with acantholysis are noted histopathologically, and intercellular binding of immunoreactants is seen with direct immunofluorescence studies of mucous membrane and skin biopsies. However, immunoreactants may also be found along the basement membrane zone in paraneoplastic pemphigus. Indirect immunofluorescence using rat bladder epithelium as substrate shows an intercellular pattern that appears to be highly specific for paraneoplastic pemphigus. We report a patient with non-Hodgkins lymphoma of 8 years duration who developed severe erosive stomatitis and lichenoid dermatitis after receiving chemotherapy for a relapse of lymphoma. Her case illustrates the typical features of the disorder described as paraneoplastic pemphigus. Neoplasia-associated pemphigus may be a more precise term for this disorder because the course of the blistering eruption does not always parallel the course of the underlying cancer. The clinical features, histopathologic findings, and immunofluorescence findings of this unique syndrome are reviewed.

Aged↗
PubMed1993

Indirect immunofluorescence on rat bladder transitional epithelium: a test with high specificity for paraneoplastic pemphigus.

BACKGROUND: Paraneoplastic pemphigus is a blistering disease with specific serum immunoprecipitation findings. Although immunoprecipitation studies allow accurate diagnosis, they are time-consuming, expensive, and not readily available. In contrast, indirect immunofluorescence (IIF) testing of serum on transitional rat bladder epithelium is a simple and inexpensive method available to any immunopathology laboratory. OBJECTIVE: Our purpose was to determine the specificity of positive IIF on rat bladder epithelium for paraneoplastic pemphigus. METHODS: The IIF findings in four index cases of paraneoplastic pemphigus were compared with the findings in 47 patients with a variety of malignant neoplasms and no associated blistering disease as well as 49 patients with vesiculobullous or lichenoid disease but no neoplasia. RESULTS: IIF was negative in all patients with neoplasia and no blistering disease and negative in all but one of the patients with vesiculobullous or lichenoid disease without neoplasia (98.9% specificity). CONCLUSION: IIF on transitional rat bladder epithelium appears to be a highly specific test for paraneoplastic pemphigus. Because of its simplicity and inexpensiveness, we suggest that IIF be performed on transitional epithelium in any suspected case of paraneoplastic pemphigus.

Animals↗
PubMed1993

Ki-1-positive anaplastic large-cell lymphoma can mimic benign dermatoses.

BACKGROUND: Regressing atypical histiocytosis is a recently described disease characterized by recurrent nodules or ulcers. The cutaneous lesions appear abruptly and then regress only to return in a manner reminiscent of lymphomatoid papulosis. Immunophenotypic analysis has revealed that most cases are a form of anaplastic large-cell Ki-1-positive (CD30+) lymphoma. OBJECTIVE: We describe two patients with Ki-1-positive anaplastic large-cell lymphoma that had clinical and pathologic features of regressing atypical histiocytosis and mimicked benign dermatoses (pyoderma gangrenosum and morphea), causing a delay in confirming the true diagnosis. A third case that was readily recognized as a lymphoma is also presented. METHODS: The clinical and histopathologic findings were recorded. In addition, T-cell receptor gene rearrangement and immunophenotyping were determined in the index case. RESULTS: The index patient and second patient were diagnosed as having Ki-1-positive anaplastic large-cell lymphoma by immunophenotyping and underwent cyclophosphamide, doxorubicin, prednisone, and vincristine (CHOP) chemotherapy with complete remission. The patient detected by chart review died of her disease without receiving antineoplastic therapy; disseminated lymphoma was diagnosed at autopsy. Studies on paraffin-embedded tissue were consistent with Ki-1-positive anaplastic large-cell lymphoma. CONCLUSION: Regressing atypical histiocytosis may clinically resemble some benign dermatoses. Recent evaluation of these cases has shown that many represent a form of Ki-1-positive anaplastic large-cell lymphoma. Multiple skin biopsy specimens with immunophenotyping and gene rearrangement studies are required to arrive at the diagnosis.

Adult↗
PubMed1993

Cutaneous and visceral granulomas in common variable immunodeficiency.

A middle-aged woman with common variable immunodeficiency noted a papular skin eruption that simulated Gottron's sign of dermatomyositis on the dorsal hands. Examination of a skin biopsy specimen demonstrated noninfectious granulomatous inflammation. The patient was subsequently found to have visceral granulomas when examined using laparotomy. Noninfectious granulomas of the viscera and integument have been previously reported in patients with several immunodeficiency syndromes, including common variable immunodeficiency.

Adult↗