Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.

We report the case of an 83-year-old French woman with multiple melanomas showing a severe DNA repair deficiency, corrected after transfection by XPC cDNA. Two biallelic mutations in the XPC gene are reported: an inactivating frameshift mutation in exon 15 (c.2544delG, p.W848X) and a missense mutation in exon 11 (c.2108 C>T, P703L). We demonstrate that these new mutations are involved in the DNA repair deficiency and confirm the diagnosis of xeroderma pigmentosum from complementation group C (XP-C). We speculate that the coexistence of a MC1R variant may be involved in the phenotype of multiple melanomas and that the unusual long-term survival may be related to a lower ultraviolet radiation exposure and to a regular clinical follow-up. This patient appears to be the first French Caucasian XP-C case and one of the oldest living patients with XP reported worldwide.

[Lung neoplasms revealing a rare cutaneous tumor: eccrine porocarcinoma]. / Métastases pulmonaires révélatrices d'une tumeur cutanée rare: le porocarcinome eccrine.

INTRODUCTION: Eccrine sweat gland carcinoma, which belongs to the eccrine sweat gland carcinoma family, is a rare malignancy of the skin with a potential aggressive growth and metastatic spread. EXEGESIS: We report here a case of malignant eccrine poroma arising on the upper leg, with widespread pulmonary metastases. CONCLUSION: A brief synopsis of the pathological and clinical aspects of eccrine sweat gland carcinoma is presented with the currently available therapies.

Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness.

A five-generation family is here reported in which several members developed malignant melanoma, dysplastic naevi, astrocytoma in all grades, benign or malignant schwannoma, neurofibroma, or meningioma in a single instance. Significant cosegregation of skin and nervous tumours, preclusion of allelism to type 1 neurofibromatosis and phenotypic departure from known syndromes of hereditary proneness to cancer make one suggest an original familial predisposition to both malignant melanoma and central/peripheral nervous tumours.

Immunophenotype analysis of dendritic cells and lymphocytes associated with cutaneous malignant melanomas.

The purpose of this study was to investigate the relationship between changes in density and distribution of dendritic cells, both in epidermis and in peritumoral infiltrate, and lymphocyte subset variations in malignant melanomas (MM) of patients belonging to different risk groups. The collective immunoreactive expression of six markers (S100 protein, CD1-a, HLA-DR, CD4, CD8 and CD25) was analyzed in 13 cutaneous malignant melanomas. Changes were observed in density and distribution of Langerhans cells (LC) (S100+, CD1-a+) in the epidermis overlying the tumor, as well as in peritumoral and intratumoral locations, independently of the tumor-invasion level. A decrease was recorded in LC (S100+, CD1-a+) in the epidermis overlying six tumors, whereas most of the MM studied showed an increase of LC (S100+, CD1-a+) in peritumoral infiltrate. The expression of HLA-DR in tumor cells was controversial; it was observed in three moderate-risk MM, but it was negative in high-risk tumors. The percentage of CD4+ cells was in most cases greater than that of CD8+ in the peritumoral infiltrate, irrespective of the degree of histopathological malignancy. The concomitant expression of the lymphocytic activation marker CD25 (receptor for interleukin 2) in lymphocytic infiltrate was variable. Peritumoral infiltrate in three high risk MM contained few CD25+ cells, and a concomitant decrease was recorded in LC. This preliminary report shows that alterations in the density and distribution of LC may be responsible for determining the degree or T lymphocyte activation, and this may be critical for the development of effective tumor-directed immunity. Further studies are required to demonstrate these hypothetical interrelations.

Cutaneous and plasma values of von Willebrand factor in AIDS: a marker of endothelial stimulation?

Patients infected by the human immunodeficiency virus (HIV) represent a model in which endothelial proliferation and/or damage are of concern. We studied Von Willebrand factor (VWF) plasma values as a presumed marker of endothelial proliferation in patients with the lymphadenopathy syndrome (LAS) (n = 45), AIDS-related Kaposi's sarcoma (KS) (n = 23), and AIDS opportunistic infections (n = 9), in comparison with normal controls (n = 19) and classical KS (n = 12). VWF was increased in AIDS patients with KS (p less than 10(-6)), in AIDS patients without KS (p less than 10(-7)), and to a lesser extent in classical KS (p less than 10(-3)) and LAS (p less than 10(-2] patients. To evaluate the diffusion of the vascular proliferation in HIV-infected patients, we studied the number of vessels within the superficial dermis of clinically uninvolved skin by an indirect immunoperoxidase method. We used an antibody directed against VWF in skin biopsies from 20 LAS patients and 10 AIDS-related KS patients compared to 11 controls and 10 classical KS patients. An increase in the number of blood vessels in normal skin was found in LAS (p less than 10(-2)), classical KS (p less than 0.05), and AIDS-related KS (p less than 10(-2]. Statistical studies and comparisons between plasma and cutaneous values of VWF indicate that plasma VWF is a good marker of endothelial damage but a poor marker of vascular proliferation in HIV-infected patients.

[Kaposi's disease in AIDS: 31 cases]. / Maladie de Kaposi au cours du SIDA: 31 cas.

We report 31 cases of AIDS-Kaposi's sarcoma (KS) studied at the Hôpital Saint-Louis, Paris, France, from January 1983 to January 1986. Twenty-nine cases were cutaneous KS and 2 were lymph-node KS. Twenty-eight patients were homosexual or bisexual males, 1 was a woman with transfusion-AIDS and 1 was an intravenous drug-addict; one male had no known risk factor. Thirty were male and 1 female, mean age 35.5 years (+/- 8.4). All were Caucasian and positive for LAV antibodies (Elavia). 17/30 (56.6 p. 100) had a history of syphilis, 16/30 (53.3 p. 100) had a positive TPHA test, 12/30 (40 p. 100) had a history of urethral discharge, 26/31 (87 p. 100) had a history of sexually transmitted disease. 27/30 had antibodies against HBs or HBc. 14/31 (45 p. 100) presented with mild symptoms (fever, loss of weight). 10/28 (36 p. 100) had lymph node enlargement before the first cutaneous lesions of KS developed. Initial involvement included the trunk (32 p. 100), the legs (25 p. 100), the face (21 p. 100) and the lower limbs (11 p. 100). Seventy-one p. 100 of the patients had more than 10 lesions at the initial assessment. The palate was involved in 50 p. 100 of patients, the lymph nodes in 74 p. 100, the stomach in 38 p. 100, the colon in 31 p. 100. In 8 cases pulmonary involvement was present. Altogether, 55 p. 100 of the patients had visceral involvement. Enlargement of the spleen (16 p. 100) and liver (13 p. 100) was also noted. Nineteen p. 100 of the patients had chronic dermatophytic cutaneous infection, 39 p. 100 had oral candidiasis, 32 p. 100 had seborrheic dermatitis, 6 p. 100 had oral hairy leukoplakia and 26 p. 100 had trimethoprim-sulfamethoxazole eruption. Fifty-five p. 100 developed opportunistic infection (OI) (Pneumocystis carinii 8 cases, intestinal cryptosporidiosis 6 cases, cerebral toxoplasmosis 4 cases, CMV pulmonary infection 3 cases). In 14 cases KS preceded OI and in 3 cases OI preceded KS. Biological results are shown in tables II and III. Main findings were: mild inflammatory syndrome (ESR 33 +/- 24 mm, first hour), polyclonal hypergammaglobulinemia (18.6 g/l +/- 5.8), elevation of plasma factor VIII related antigen (191 +/- 66 U/dl), elevation of serum activity of angiotensin-converting enzyme (23.8 +/- 5 nmol/ml/min), low plasmatic cholesterol (3.77 +/- 1.1 mmol/l).(ABSTRACT TRUNCATED AT 400 WORDS)

The diagnosis of cutaneous T-cell lymphoma by morphometric evaluation of the cellular infiltrate, using semithin sections.

In order to improve the cytological criteria for the diagnosis of cutaneous T-cell lymphomas (CTCL), a number of morphometric assessments in semithin sections have been performed on the dermal infiltrates of twenty-one cases of overt CTCL (group I) and twenty-two cases of well-defined benign dermatoses (group II). In each biopsy, an average of 250 cells were measured for perimeter (P), surface area (S), 'nuclear shape index' (NSI), mean surface and mean NSI. We also determined the percentage of typical 'highly cerebriform lymphocytes' (HCL). Cells of group I patients were found to have mean S and mean NSI that differed significantly from those of group II. HCL were found to have a mean NSI value of less than 0.40. The diagnostic value of these measurements was confirmed in the group I patients. Nineteen of them had a mean NSI value of less than 0.61, together with a mean S greater than 14 sq. micron. None of the twenty-two patients of group II had such values. The discriminating power of these criteria was then tested retrospectively on another group of initially controversial patients who presented with suspected CTCL (group III patients). Nine have since evolved into overt CTCL (group III M) while the other ten have remained benign (group III B). All group III B patients and five patients of group III M were correctly assigned using the above morphometric criteria. This method could improve the diagnosis of the early stage of cutaneous T-cell lymphoma.

[Establishment of a 2-stage prognostic classification of primary malignant melanoma derived from a multidimensional analysis and from an agreement study]. / Etablissement d'une classification pronostique en 2 stades du mélanome malin primitif à partir d'une analyse multidimensionnelle et d'une étude de concordance.

Slides of 198 patients with primary malignant melanoma have been reevaluated independently by three pathologists; considered parameters were histologic type, Clark's level and tumor thickness. The agreement between pathologists is excellent, especially for histologic type and thickness. The use of the Cox's regression model, dealing with disease free interval as response criterion, shows that the main prognostic factor is tumor thickness, whatever the pathologist. A prognostic staging is thus proposed, based only on the tumor thickness, less than 2 mm, greater than 2 mm. The prognostic value of this staging is confirmed on a new sample of 145 patients. This classification is used as decision tool in a new randomized clinical trial.

Demonstration of T lymphocytes in leprous granuloma using the acid alpha naphtyl acetate esterase activity. An attempt at quantitative analysis.

In nine leprosy patients (1 TT, 1 BT, 4 BL and 3 LLp), esterase positive lymphocytes (T Lymphocytes) were studied in frozen sections of skin biopsies by alpha naphtyl acetate esterase pH 5.8 method (ANAE) Four patients had never been treated previously and five patients exhibited clinical and bacteriological evidence of relapse for inadequate therapy at first biopsy. There was an increase in ANAE (+) lymphocyte density in granulomas when second biopsies were done after efficient treatment, evaluated by bacillary index for the eight bacilliferous patients, and clinical improvement. The significance of T cells in granulomas is discussed.

[Stage I malignant melanoma of the skin. Prognostic value of thickness and level (author's transl)]. / Mélanomes malins de stade I. Importance pronostique de l'épaisseur et du niveau.

In a retrospective study of 95 patients seen between 1950 and 1978, the outcome of malignant melanoma levels III, IV and V of Clark's classification was reviewed. Patients with lentigo malignant melanoma were excluded. The overall survival rate was 63% at 5 years and 48% at 10 years. For the whole population of patients significant differences in survival rate were associated with level (p = 0,00002), thickness (less than 2 mm or greater than or equal to 2 mm; p less than 0.0,0001) and histological type (p = 0,02). The significance of prognostic variables taken separately was calculated by the Breslow method and was found to be: p = 0,0005 for thickness, p = 0,0009 for patient's age and p = 0,02 for histological type. In analysis with two variables, including level, thickness was the variable that added most to the information on prognosis supplied by level. For the population of patients with melanoma levels III and IV significant differences in survival rate were associated with thickness (less than 2 mm or greater than or equal to 2 mm; p less than 0,001), though not with level. When the variables were studied separately, thickness and patient's age were significant (p = 0,02 and p = 0,03 respectively). Analysis with two variables, including thickness, showed that age was the variable that added most to the information on prognosis supplied by thickness.

[Streptococcal gangrene. Importance of surgical treatment]. / La gangrène streptococcique. Importance du traitement chirurgical

The authors report five cases of streptococcal gangrene and stress the fundamental role of surgical excision. Parenteral anti-streptococcal antibiotics should not lead to this essential step being forgotten, its early application being the most important element in prognosis. It is thus essential to clearly understand the local and general criteria of rapid diagnosis in this condition, which is far from rare.

[Osseous echinococcosis. Apropos of 6 anatomo-clinical observations]. / Léchinococcose osseuse. A propos de six observations anatomo-cliniques

Concerning these six cases, the authors recall the rarity of osseous localization of Hydatidiform disease, isolated as a rule, arising in the adult and preferentially involving the ilium, spinal column, femur, humerus and scapula. Being slowly progressive, the condition is revealed by pain, swelling and above all spontaneous fractures (long bones), or signs of root or medullary compression (spinal column), followed sometimes by fistula formation. Radiological diagnosis is often difficult with an osteolytic appearance without appreciable reactional osteogenesis. As for laboratory investigations, they are only of value in orientation; immunofluorescence being the weakest. The extent of osseous lysis frequently demands extensive surgery. From the anatomical standpoint, the hydatid variety of Echinococcosis has a specific intra-osseous development: beginning in the spongy bone, the architecture is intermediary between the hydatid appearance and the alveolar variety. Some cases however comprise a unilocular appearance with a suspicion of adventitial reaction. Extension into the soft parts frequently adopts a macroscopic appearance identical with that of visceral forms. Bony lysis is dependant on osteoclastic resorption or foci of necrosis while reactional osteogenesis is reduced. Medullary cellular reactions are determinant in the anatomical progress: osteitis or histiocyte and plasmodial reaction to the cuticle fragments.