Biomedical subjects
B Balme
Publications and source records attributed to B Balme.
[Dermatitis herpetiformis].
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Venlafaxine-associated psoriasiform palmoplantar keratoderma and subungual hyperkeratosis.
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Fine-needle aspiration biopsy with ultrasound guidance in patients with malignant melanoma and palpable lymph nodes.
BACKGROUND: Recurrence after treatment of stage I-II melanoma involves regional lymph nodes in about 50% of patients. A reliable method is needed to evaluate lymph node status (metastatic or not) in the case of palpable lymph nodes. OBJECTIVES: To evaluate the efficiency of fine-needle aspiration biopsy (FNAB) in examining clinically detected suspicious lymph node in patients followed up after surgical removal of stage I-II melanoma. PATIENTS AND METHODS: One hundred and twenty FNABs were performed in 67 patients with a suspicious node in an open study conducted in a French melanoma regional referral centre, Hôpital de l'Hôtel-Dieu. Cytodiagnosis was classified as positive, negative, inadequate or inconclusive. Sensitivity, specificity, positive and negative predictive values and positive and negative likelihood ratios were calculated after final histopathological evaluation. RESULTS: Fifty-eight of 120 FNABs were positive (48%), 50 of 120 (42%) were negative, four of 120 (3%) were inconclusive and eight of 120 (7%) were inadequate. Among the 108 FNABs in which a definitive diagnosis could be given, sensitivity was 98.2% [95% confidence interval (CI) 90.7-99.9] and specificity was 96.1% (95% CI 86.8-98.9). CONCLUSIONS: FNAB under ultrasound guidance is an efficient tool to discriminate better between cases in which surgical treatment of the lymph node basin should be performed and patients who should return for follow-up. Surgical treatment appears to be required in cases of positive FNAB or in inconclusive cases.
Acral lentiginous melanoma: a clinicoprognostic study of 126 cases.
BACKGROUND: Although the histopathological subtype of melanoma has not been clearly proven to carry independent prognostic significance, acral lentiginous melanoma (ALM) seems to confer a poorer prognosis mainly because disease is often more advanced at the time of diagnosis. OBJECTIVES: To investigate the distinctive epidemiological and clinical characteristics of ALM, a peculiar histological entity, and to identify prognostic factors. METHODS: We performed a register-based review of cases from a single large referral centre, the University Hospital Department of Dermatology, Lyons, France. We reviewed patient demographics, the initial presentation of the lesion, and clinical outcome. ALM-specific and disease-free survival were estimated using the KaplanMeier method and compared using the log-rank test. A Cox model was used to identify prognostic factors. RESULTS: One hundred and twenty-six patients were identified as having histopathology-proven ALM in our melanoma patient register from 1996 to 2004. There were 46 (37%) subungual ALM and 80 (63%) ALM on soles, palms and nonvolar sites. The mean age at diagnosis was 63 years. There were 44 (35%) men and 82 (65%) women, sex ratio M/F 1 : 1.86. The mean Breslow thickness was 2.51 mm (range: in situ to 20 mm). There was no evidence of overexposure to ultraviolet radiation, nor was there found a predisposing genetic trait. Only 16 (13%) patients recalled a history of trauma. Thirty-four ALM (28%) were unpigmented. The median ALM-specific and disease-free survival were 13.5 and 10.1 years, respectively. The 5-year survival rate was 76%. Multivariate analysis identified tumour thickness, male gender and amelanosis as independent clinical prognostic factors for both ALM-specific and disease-free survival. CONCLUSIONS: Our study provides specific information on the clinical characteristics and outcome of this uncommon histological subtype of melanoma. However, the pathogenesis remains unknown. Breslow thickness, male gender and amelanosis were significantly associated with a poorer prognosis.
Schnitzler syndrome associated with systemic marginal zone B-cell lymphoma.
Schnitzler syndrome is a rare condition defined by chronic urticaria and monoclonal IgM gammopathy. Malignant evolution to Waldenström disease (WD) has been reported in several cases. We report a 49-year-old man who developed a marginal zone B-cell lymphoma (MZL) 3 years after the beginning of Schnitzler syndrome. This is the first report of MZL in association with Schnitzler syndrome. IgM gammopathy is a clue for the diagnosis of Schnitzler syndrome. This condition needs to be closely monitored; it can precede the onset of an authentic lymphoproliferative disorder including WD and rarely MZL.
[Important systemic absorption of topical tacrolimus during treatment of severe pemphigus vulgaris].
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[Common nevi].
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Mycosis fungoides-associated follicular mucinosis under adalimumab.
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Bullous systemic lupus erythematosus with autoantibodies recognizing bullous pemphigoid antigen 1.
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Erythema multiforme induced by fluconazole.
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Hereditary 'white nails': a genetic and structural study.
BACKGROUND: Hereditary subtotal leuconychia is a rare nail disease. The gene(s) underlying this phenotype is (are) not known. Immunohistochemical and ultrastructural studies of nails are performed infrequently. OBJECTIVES: To perform genetic linkage analysis and to assess ultrastructure and soft/hard keratin expression in hereditary white nails. METHODS: We have analysed microscopically and ultrastructurally the white nails of a patient from a family in which the trait is inherited in an autosomal dominant manner as an isolated symptom. No skin lesions or hair abnormalities could be detected. Genetic linkage studies were performed on DNA samples obtained from several members of the affected family. A longitudinal surgical biopsy of the nail from a great toe was split in two parts. One part was fixed in formalin and processed for histopathology. Another part was further subdivided and embedded either in Epon, following fixation in 2% glutaraldehyde, or in Lowicryl K4M, after fixation in 3% paraformaldehyde. Dewaxed nail sections and Lowicryl ultrathin sections were also stained with various antikeratin antibodies. RESULTS: Genetic linkage studies of the family pointed to the disease gene mapping to the chromosomal 12q13 region. Genes mapping within this chromosomal region include the genes coding for type II (basic) cytokeratins and hard keratins. The nail matrix presented an abnormal hypergranulosis. The upper part of the nail plate, originating from the proximal nail matrix, had a nonhomogeneous lamellar appearance, with numerous intracellular 'lipidic' vacuoles and 'empty' spaces separating keratin filament bundles. These cells were progressively shed at the nail surface. The cell loss was compensated by hyperproliferation of the distal matrix and of the nail bed keratinocytes, with persistent marked parakeratosis and loose arrangement of keratin bundles. The distal matrix and the nail bed contributed equally to formation of the lower plate. This presented the characteristics of a tissue composed of soft keratins. Accordingly, there was virtually no labelling with the Hb1 antibody to a basic hard keratin in the white nail, whereas the labelling with AE3 antibody to all type II keratins and with KL1 recognizing suprabasal soft keratins was normal or even enhanced. CONCLUSIONS: Genetic linkage indicates that the gene defect underlying the leuconychia in the family studied resides on chromosome 12q13. As the type II keratins map within this chromosomal interval, it is possible that a mutation in one of these keratin genes may be a cause of the hereditary leuconychia. The white appearance of nails in this disease seems to be due to an abnormal keratinization of cells originating from the proximal nail matrix, leading to the presence of abundant intracellular vacuoles and to a lesser compactness of keratins.
Tubulovillous adenoma of the vulva.
BACKGROUND: We report the second case of enteric-type villous adenoma of the vulva. The differential diagnosis, histogenesis, and pathogenesis are discussed. CASE: A 66-year-old woman had a tumor resected from the posterior aspect of the vulva. The tumor was characterized by its villous architecture, with columnar epithelium and goblet cells. This vulvar tubulovillous adenoma was identical to a tumor resected 6 months before from this patient's rectal wall. CONCLUSION: These two tumors behaved benignly, and the vulvar adenoma possibly originated with the müllerian vestige.
Relevance of vertical growth pattern in thin level II cutaneous superficial spreading melanomas.
Thin (<or=0.76 mm) level II cutaneous superficial spreading melanomas (SSMs) are known to be of excellent prognosis and very few recur, metastasize, or are lethal. Although many prognostic features at this stage have been studied, none appears to be statistically significant. The concept of tumor growth phase is correlated with Clark's level except for level II. SSM level II show either an invasive vertical growth phase or an invasive radial growth phase. The aim of our study (retrospective, multicenter, and case-control type) was to investigate the prognostic impact of vertical growth phase in thin level II cutaneous SSM. We identified 12 patients of poor outcome with complete initial excision. Each case was matched with three controls for gender, age, location, tumor thickness, and follow-up period since diagnosis. Independent pathologists studied all cases and controls. Univariate analyses were performed with a conditional logistic regression method. A kappa test was used to assess reproducibility between pathologists. Our study is the first and largest that shows that vertical growth phase is the only statistically significant prognostic factor for thin level II cutaneous SSM. We propose that growth phase evaluation (a minimum of eight serial sections being mandatory not to underdiagnose vertical growth phase) should be added to the recommendations for melanoma histologic report, at least for level II SSM.
[Photo-induced sarcoidosis].
INTRODUCTION: Among the multiple forms of clinically atypical cutaneous sarcoidosis, lesions limited to light-exposed areas are rare. We describe a fourth observation. CASE REPORT: A phototype V 51-year-old woman, born in Tunisia presented with papular erythema on the face. Treatment with topical steroids did not result in any improvement. Biopsy specimen revealed a non caseating granuloma according with sarcoidosis. Assessment for systemic sarcoidosis was negative. Phototesting showed no abnormalities. The patient was successfully treated with chloroquine. DISCUSSION: Only three similar observations are reported in the literature. The role of light exposure despite the negative phototesting seems to be real. The tallying of these four observations permits one to isolate photo-induced sarcoidosis as a single entity.
[Sub-total hereditary leukonychia, histopathological and electron microscopy study of "milky" nails].
INTRODUCTION: Leuconychia is the most common of ungueal discoloration or dyschromia. The hereditary form, sub-total or total, is very rare. We report the observation of a family in which thirteen members, distributed over four generations, presented a partial or subtotal leukonychia of all nails. On the basis of this observation and histopathological analysis of the propositus nail, we discuss the different hypotheses proposed to account for white nails. OBSERVATION: A 45 year-old man without previous medical history, showed partial or sub-total leukonychia of his twenty nails. Clinical examination revealed soft nails with slow growth. Discoloration or dyschromia was associated with koilonychia on the fingers without other cutaneous or visceral abnormalities. A longitudinal biopsy of the whole ungueal apparatus of the large toe was performed. Histopathological analysis showed parakeratosis and an abnormal granular layer thickened on the proximal and ventral womb. These abnormalities were responsible for heterogeneous HES coloration, lamellar and dissociated aspect of the nail plates. Electron microscopy revealed dissociated keratin bundles and the existence of intracytoplasmic clear vacuoles probably of lipid origin. This aspect was observed on the proximal part of the dorsal tablet and disappeared in the distal portion of the nail. DISCUSSION: According to Newton's theorem, a surface appears white when it reflects all the radiation of visible light. This mechanism can be proposed to explain leukonychia. On histological level, parakeratosis and dissociation of the keratin bundles may play a role in the modification of the solar light reflection by ungueal plates. In our case, parakeratosis and disorganization of keratin bundles were present in the white part of the nail, but also in the distal, pinkish crescent (distal dorsal plate). Electron microscopy analysis showed clear vacuoles located in the white part of the nail, whereas they were not seen in the distal part. These observations confirm the probable participation of parakeratosis and keratin abnormalities in this pathology but also suggest an important role of lipid vacuoles. Therefore, some white nails may in fact be "milky" nails. Finally, disorganization of the keratin bundles observed, was also reported in other genodermatosis e.g.: epidermolysis bullosa simplex. In this latter pathology, some hard keratin genes mutations (K5 and K14) have been demonstrated. According to these results, a genetic study is on going in this family in order to search for a mutation in one of the hard keratin genes.
Oral calcitriol: a new therapeutic agent in cutaneous lichen sclerosis.
BACKGROUND: Lichen sclerosus remains an elusive disease with an uncertain relationship to morphea and scleroderma. The disorder has been difficult to treat, with no consistent and reproducible efficacious therapy. Recently, a beneficial effect of treatment with oral calcitriol (1-25 dihydroxyvitamin D3) in patients with scleroderma or morphea was described. This fact could be ascribed to the immunomodulatory effects of calcitriol observed in vitro and to inhibition of fibroblastic growth. Because of the success of calcitriol in localized scleroderma, we attempted this therapy in a patient with LS. OBSERVATION: One patient with cutaneous generalized LS resistant to different therapeutics was treated with calcitriol in an oral daily dose of 0.5 mcg. After 6 months of treatment, the skin extensibility increased, and the lesions improved. The improvement persisted after discontinuation of therapy during a follow-up period of one year. The only side effect was hypercalciuria, which resolved with dose reduction. CONCLUSION: Calcitriol has shown a beneficial effect in scleroderma and morphea during open studies. A case is reported of a patient with LS who had a dramatic response to calcitriol. Double blind, placebo-controlled trials are needed to assess the therapeutic value of calcitriol in patients with LS.
[Hypomelanosis of Ito in a girl with Trisomy 13 mosaicism: a cytogenetic study].
BACKGROUND: Hypomelanosis of Ito was first described by Ito in 1952 as incontinentia pigmenti achromians. The consistent feature of the disease is a characteristic cutaneous hypopigmentation area following the lines of Blaschko, but the clinical manifestations are varied and hypomelanosis of Ito is regarded as a neurocutaneous syndrome. Hypomelanosis of Ito is sporadic but is probably a non-specific expression of chromosomal mosaicism; we report a case with four clones. CASE REPORT: We report the case of a 26 year-old woman with neurocutaneous hypomelanosis of Ito and Trisomy 13 mosaicism. She also exhibited skeletal and ophthalmologic disorders. Immunohistology revealed a PS100 and Melan A decrease in hypopigmented skin. Cytogenetic study of normal and hypopigmented skin fibroblasts showed mosaicism with four clones. DISCUSSION: This is the third case of Trisomy 13 mosaicism associated with hypomelanosis of Ito, although other anomalies on chromosome 13 have been described. Happle published "phylloid" pigmented cases, which are mainly associated with Trisomy 13. This is the first observation of four-clone mosaicism and can be explained by successive mutations during embryogenesis. Anomalies on chromosomes 5,6 and 21 have never been described. The definition of hypomelanosis of Ito is not well established and the disease is presently included in a group of "pigmentary dysplasia" with genetic mosaicism.