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Biomedical subjects

Brigitte Balme

Publications and source records attributed to Brigitte Balme.

15 recordsLinked to original sources

IgA Vasculitis with necrotizing arteritis: a multicenter retrospective study from the French Vasculitis Study Group and systematic review of the literature.

IgA vasculitis (IgAV) primarily affects small vessels, but rare cases with necrotizing arteritis (NA) raise questions about overlap with polyarteritis nodosa (PAN). To characterize IgAV with necrotizing arteritis (IgAV-NA) and compare its phenotype with classical IgAV and PAN. We performed a multicenter retrospective study combined with a systematic literature review (1990-2025). Patients fulfilled EULAR/PRINTO/PRES IgAV criteria, had pathological or imaging evidence of NA in small or medium arteries, and were ANCA-negative. Thirty patients were included (7 from databases, 23 from the literature). NA was confirmed by biopsy (n = 16) or vascular imaging (n = 14). Clinical features, treatments, remission, and mortality were compared with 257 adult IgAV and 196 PAN patients. Median age was 54.5 years. IgAV-NA was characterized by severe manifestations, including gastrointestinal bleeding, perforation, surgical abdomen, neuropathy, pancreatitis, and livedo. Compared with classical IgAV, IgAV-NA showed significantly higher rates of multi-organ involvement and mortality. Compared with PAN, IgAV-NA shared vascular complications but had less fever and neuropathy. Despite arterial involvement, patients did not fulfil PAN criteria. IgAV-NA represents a rare, severe IgAV phenotype with life-threatening complications rather than an IgAV-PAN overlap. Severe or atypical IgAV presentations should prompt vascular imaging and intensified immunosuppression.

Humans↗

Scleromyxedema: successful treatment with thalidomide in two patients.

BACKGROUND: Scleromyxedema is an unusual skin disease characterized by mucinous infiltration of the skin. There is no satisfactory treatment for this disorder. CASE REPORT: We report 2 cases of scleromyxedema, both associated with an IgG-lambda paraprotein. Treatment with thalidomide was started and great improvement of the lesion was noted as shown by a quality of life questionnaire similar to those used in rheumatoid arthritis. TNF-alpha value was elevated in both cases during this treatment. DISCUSSION: We hypothesize that the efficiency of thalidomide could be mediated by its costimulatory effect on T cytotoxic lymphocytes.

Adult↗

Lymphomatoid papulosis localized to the face.

We report a case of lymphomatoid papulosis (LyP) localized to the face. Only ten cases of localized LyP have been reported, and those involved the extremities. Three of those cases finally evolved to classic LyP with a widespread distribution of the lesions, the other cases remain limited. The evolution into lymphoma for the localized form appears to be equivalent to that reported with the generalized LyP (20 %), underlining the need for long-term followup of these patients. This is the first reported case of LyP localized to the face.

Administration, Topical↗

Cytogenetic and molecular analysis of 12 cases of primary cutaneous marginal zone lymphomas.

Primary low-grade B-cell lymphomas of the skin are separated into marginal zone and follicle center lymphomas according to the recent World Health Organization-European Organization for Research and Treatment of Cancer classification, with distinct histologic and immunohistochemical profiles. Some cases remain difficult to distinguish. The degree of relationship with their extracutaneous counterparts is currently being investigated on clinical, histologic and molecular grounds. Cytogenetic analysis using fluorescence in situ hybridization was performed on 12 frozen samples of infiltrated skin that had been classified as marginal zone lymphoma (MZL). Chromosomal changes known to be recurrently observed in systemic MZL of the mucosa-associated lymphoid tissue type, and in follicular center lymphoma were analyzed. These included trisomy for chromosomes 3, 7, 12, and 18 as well as t(14;18) IGH/BCL2, t(14;18) IGH/MLT1, and t(11;18) API2/MLT1 translocations. Complementary molecular search of IGH/BCL2 rearrangement using a polymerase chain reaction technique and of API2/MLT1 mRNA expression by reverse transcriptase-polymerase chain reaction were performed. Two cases showed evidence of trisomy 3 at levels varying from 14% to 20% of the analyzed cells. No other chromosomal abnormalities were found with those techniques in the remaining cases. These results demonstrate that known recurrent chromosomal abnormalities rarely occur in primary cutaneous MZLs and suggest the possibility of a variety of initial oncogenic events leading to a common downstream pathway. These data also underline that fluorescence in situ analysis on routine skin punch biopsies represents a reliable tool for the detection of chromosomal changes, but requires consistent dermal infiltration.

Adult↗

Multiple adult xanthogranuloma: case report and literature review.

BACKGROUND: Non-Langerhans cell histiocytoses form a heterogeneous group defined by the proliferation of cells with macrophage characteristics. Diagnosis is easy in typical cases but becomes more complex in unusual forms. CASE REPORT: We report the case of a 53-year-old patient who presented multiple brown-to-yellowish papules and nodules of the trunk, neck, and head evolving for 6 months. No visceral involvement was found. Histopathological examination revealed histiocytic proliferation with features of secondary xanthomization with the presence of giant foamy multinucleated Touton cells. One year later, all lesions cleared spontaneously. Based on the clinical presentation and evolution and on the immunohistologic data, we retain the diagnosis of adult xanthogranuloma (AXG) in a diffuse shape. DISCUSSION: Multiple AXG is a rare entity (15 cases reported since 1963) with a stereotypic presentation. It is important to recognize because of its good prognosis and the absence of visceral involvement therefore requiring no investigations or aggressive treatments. This case is interesting because of the complete and spontaneous healing of all the lesions within 20 months.

Antigens, CD↗

Aggressive CD30 large cell lymphoma after cyclosporine given for putative atopic dermatitis.

Atopic dermatitis (AD) is not regarded as a predisposing condition for cutaneous T cell lymphoma. Cyclosporine (CsA) is an efficient therapy in AD, and its side effects, including lymphocytic proliferation, are rare at the low dose used in such cases. So far 3 cases of patients who developed cutaneous T cell lymphoma under CsA treatment for atopy have been described. An adult patient with a history of AD received CsA therapy because of an atypical flare-up of his eruption. He rapidly developed papular atypical lesions, then followed by the onset of a voluminous cutaneous tumor leading to the diagnosis of mycosis fungoides (MF) transformed in CD30+ large cell lymphoma with nodal and blood involvement. No improvement occurred after withdrawing of CsA, and he required a polychemotherapy and an allograft. This case illustrates the dramatic evolution of an MF under CsA given in the hypothesis of AD. It stresses the fact that skin biopsies should be taken in case of atypical AD to rule out MF and avoid such an aggressive evolution under immunosuppressive therapy.

Adult↗

mda-9/Syntenin: a positive regulator of melanoma metastasis.

Metastasis is a significant event in cancer progression and continues to pose the greatest challenge for a cancer cure. Defining genes that control metastasis in vivo may provide new targets for intervening in this process with profound therapeutic implications. Melanoma differentiation associated gene-9 (mda-9) was initially identified by subtraction hybridization as a novel gene displaying biphasic expression during terminal differentiation in human melanoma cells. Mda-9, also known as syntenin, is a PDZ-domain protein overexpressed in many types of human cancers, where it is believed to function in tumor progression. However, a functional role of mda-9/syntenin in tumor growth and metastasis and the signaling pathways involved in mediating these biological activities remain to be defined. Evidence is now provided, using weakly and highly metastatic isogenic melanoma variants, that mda-9/syntenin regulates metastasis. Expression of mda-9/syntenin correlates with advanced stages of melanoma progression. Regulating mda-9/syntenin expression using a replication-incompetent adenovirus expressing either sense or antisense mda-9/syntenin modifies the transformed phenotype and alters metastatic ability in immortal human melanocytes and metastatic melanoma cells in vitro and in vivo in newborn rats. A direct relationship is observed between mda-9/syntenin expression and increased phosphorylation of focal adhesion kinase, c-Jun-NH2-kinase, and p38. This study provides the first direct link between mda-9/syntenin expression and tumor cell dissemination in vivo and indicates that mda-9/syntenin expression activates specific signal transduction pathways, which may regulate melanoma tumor progression. Based on its ability to directly alter metastasis, mda-9/syntenin provides a promising new focus for melanoma cancer research with potential therapeutic applications for metastatic diseases.

Adenoviridae↗

[Pathological and clinical correlations in primary cutaneous B-cell lymphomas: a series of 44 cases].

AIMS: histological and clinical relationship study of 44 cases of primary cutaneous B cell lymphoma, classified according to WHO classification. MATERIALS AND METHODS: histological, immunological and molecular analysis was correlated with clinical data. RESULTS: 33 cases (75%) were marginal zone B-cell lymphomas (MZL), with head and trunk predominance (median age = 54 years). Relapses in other mucosa-related sites occurred in 3 patients. Histological transformation implied a more aggressive treatment in 3 cases. A favorable outcome was observed in most cases. 9 (20%) diffuse large B-cell lymphomas (DLBCL) appeared as a unique nodule, with female predominance (median age = 74 years) and 4 lymphoma-related deaths which seemed age-related (> 70 years) with only one lower limb localization. Histological aggressive features were present in 3 patients with a fatal outcome. 2 (5%) WHO grade 3 follicular lymphomas (FL) had an heterogeneous phenotype, with head localization, cutaneous relapses and good outcome. CONCLUSIONS: MZL, the predominant type, has a good prognosis, although transformation can occur, needing a more aggressive treatment. DLBCL, observed in older patients, has clinical and histological prognostic factors identical to extra-cutaneous lymphomas. FL appears rare and has an heterogeneous phenotype. Relationships with its nodal counterpart remains unclear.

Adult↗

Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine.

BACKGROUND: Elastosis perforans serpiginosa (EPS) is a reactive perforating dermatosis characterized by the elimination of abnormal elastic fibers from the upper dermis through the epidermis. In a few cases, it occurs as a side effect of treatment by D-penicillamine (DPA). The first case of EPS induced by DPA was described in 1972 in a patient treated for Wilson's disease. Subsequently, cutaneous changes resembling pseudoxanthoma elasticum (PXE) were observed in patients treated with DPA and were reported as pseudo-PXE. CASE REPORT: We report herein the clinical, pathological and ultrastructural study of 2 new cases of DPA-induced EPS and pseudo-PXE. These patients had been treated for Wilson's disease since 14 and 16 years, respectively. Characteristic abnormal elastic fibers were found on histopathological examination of both EPS and pseudo-PXE skin and confirmed by an ultrastructural study. There was no ABCC6 mutation. DISCUSSION: Penicillamine is able to induce widespread, cutaneous and systemic, elastic fiber damage. Our patients present typical features of DPA-induced elastosis, presenting as EPS and pseudo-PXE. ABCC6 mutation is associated with PXE and, as expected, it was absent in our cases of pseudo-PXE. This elastopathy has been related to morphologic changes in elastic fibers secondary to prolonged therapy in most cases. DPA may interfere with elastin cross-linking through inhibition of the enzyme lysyl oxidase, or by formation of complexes with the cross-linked precursors, impairing a normal maturation of elastic fibers. However, no fatal complication of DPA-induced elastopathy has been reported so far. An improvement of the cutaneous lesions is expected after the drug discontinuation.

Adult↗

Pseudosclerodermatous panniculitis after irradiation and bronchiolitis obliterans organizing pneumonia: simultaneous onset suggesting a common origin.

Due to the technical evolution of radiation therapy of breast carcinoma, new manifestations occur as side effects. Newly described unexpected cutaneous events are morphea of the breast and pseudosclerodermatous panniculitis after irradiation (PPAI). They appear as specific consequences of megavoltage radiation. Radiotherapy-induced bronchiolitis obliterans organizing pneumonia (R-BOOP) is one of the pulmonary manifestations due to recent advances in radiotherapy of breast carcinoma. We report a case of PPAI and R-BOOP of simultaneous onset in a 60-year-old woman 6 months after megavoltage radiation therapy for breast carcinoma. We also noted an improvement of both unexpected reactions with systemic corticosteroid therapy and a common relapse when tapering the treatment. Only eight cases of PPAI have previously been reported. We believe that this entity is often underdiagnosed. The symmetrical onset and parallel evolution suggest a common origin for PPAI and BOOP in our case: the megavoltage radiation therapy. The pathogeny of R-BOOP is not direct toxicity of irradiation because untreated areas can also be affected. Pathogenesis of PPAI remains unknown, but a simultaneous onset with R-BOOP suggests a similar mechanism. While a cumulative dose of irradiation does not seem to be determinant an immune reaction to neoantigens induced by radiation could be an hypothesis.

Biopsy, Needle↗

Subungual blue nevus.

Junctional or compound melanocytic nevus and melanoma may involve the nail apparatus and are usually discussed in the differential diagnosis of nail pigmentation. Blue nevus has been very rarely reported in this location. We report the second clinicopathologic study of a subungual blue nevus.

Adult↗

Dermoscopic examination of nail pigmentation.

BACKGROUND: Diagnosis of longitudinal melanonychia is usually difficult, and neither a single clinical criterion nor a combination of symptoms currently can be used to clearly distinguish malignant from benign bandlike pigmented nail lesions. Biopsy is painful and often leaves definitive dystrophic scars. OBJECTIVES: To describe and evaluate dermoscopic patterns associated with longitudinal nail pigmentation. PATIENTS AND METHODS: A total of 148 unselected consecutive cases of longitudinal melanonychia were included over a period of 4 years (20 melanoma, 37 nevi, 16 drug-induced nail pigmentation, 45 nail apparatus lentigo of various types, 8 ethnic-type nail pigmentation, and 22 subungual hemorrhages). All patients were recruited from the dermatology unit outpatient clinic of the Hôtel Dieu de Lyon. All cases were photographed in vivo under oil immersion (dermoscopy). Patterns were recorded prior to final pathologic diagnosis. An independent biostatistics unit performed statistical evaluation using 7 semiologic patterns. RESULTS: Melanoma cases were significantly associated with a brown coloration of the background and the presence of irregular longitudinal lines (P =.001). Blood spots were mostly observed in subungual hemorrhages (P =.001); however, their presence could not rule out melanoma. Micro-Hutchinson sign was observed only in melanoma, but its rare occurrence did not allow any statistical evaluation of its specificity. Nail apparatus nevi were significantly associated with a brown coloration of the background and the presence of regular lines (P =.001). Nail apparatus lentigo, ethnic-type pigmentation, and drug-induced pigmentation were significantly associated with homogeneous longitudinal thin gray lines and gray coloration of the background (P =.001). Microscopic longitudinal grooves were unspecific, occurred in several conditions, and were associated with any type of ungual discoloration. CONCLUSIONS: We believe that dermoscopic examination of the nail plate in cases of longitudinal melanonychia provides useful information that could help clinicians to more accurately decide if a nail apparatus biopsy should be performed; however, histopathologic diagnosis remains the gold standard in doubtful cases.

Adult↗

Apocrine carcinoma developed in nevus sebaceus of Jadassohn.

Apocrine skin carcinoma (ASC) is a rare aggressive cutaneous tumor. We describe a case of ASC occurring on a nevus sebaceus of Jadassohn (NSJ) in a 66-year-old man. Malignant degeneration of NSJ is a rare complication usually found in elderly patients. Most of these tumors are basal cell carcinomas or squamous cell carcinomas. Only five cases of ASC on NSJ have been previously reported. This report recalls the potential of NSJ for degeneration.

Aged↗