[Cutaneous periarteritis nodosa recurring over a period of 30 years in streptococcal infections and progressing toward systemic vasculitis]. / Périartérite noueuse cutanée récidivant depuis 30 ans lors d'infections streptococciques et évoluant vers une vascularite systémique.

INTRODUCTION: Periarteritis nodosa (PAN) is a form of vasculitis affecting the small and medium-sized arteries. Below, we report a case of cutaneous PAN relapsing in streptococcal infections over a period of 30 years and progressing towards systemic vasculitis. CASE REPORT: A 35-year-old man was hospitalised for a retro-pharyngeal access associated with fever, arthralgia, myalgia and inflammatory subcutaneous nodules. Peripheral neurological signs were also seen with deficiency of the elevator muscles in the right foot. Examination of a biopsy from a nodule showed a characteristic image of PAN. Following drainage of the abscess, a favourable outcome was obtained with antibiotics and systemic corticosteroids. History taking showed that the patient had presented similar episodes since the age of 5 years involving arthralgia, myalgia and inflammatory subcutaneous nodules. These episodes appeared to follow a streptococcal infection, of which there was either clinical suspicion or objective elevation of antistreptolysin O (ASLO) titre. Skin biopsy resulted in diagnosis of cutaneous PAN 25 years earlier. In all cases, improvement was achieved by oral corticosteroids combined with treatment of the actual infection. DISCUSSION: In addition to the classic association with hepatitis B, and occasionally hepatitis C, PAN may be associated with streptococcal infections. The cases of post-streptococcal PAN described in the literature are predominantly cutaneous, although it is not rare to find associated arthromyalgia and sensory neurological impairment. We examined three cases of cutaneous PAN with long-term follow-up described in the literature. They began in childhood and the outcome was benign, with no systemic manifestations. Our case differed in terms of the appearance of motor neurological involvement. CONCLUSION: Post-streptococcal PAN of childhood onset generally carries a better prognosis than adult systemic forms. However, our case shows that on rare occasions, there may be very long progression complicated by systemic involvement.

[Leukaemia cutis during acute aleukaemic myeloid leukaemia in a two-month-old infant]. / Leucémie cutanée révélatrice d'une leucémie aiguë myéloïde sans blastes circulants chez un nourrisson de deux mois.

BACKGROUND: Congenital cutaneous leukaemia is rare. PATIENTS AND METHODS: A two-month-old girl presented bluish cutaneous macules of the trunk, histological examination of which suggested acute myeloid leukaemia (LAM B 5). The blood picture was negative for circulating tumour cells and the outcome under chemotherapy was favourable at one year of follow-up. DISCUSSION: The prognosis of congenital leukaemia is serious. Aleukaemic congenital leukaemia is seen occasionally but is rare. The existence of multiple cutaneous tumours in newborn infants raises the possibility of TORCH infection and of other malignant tumours such as nephroblastoma or neuroblastoma.

[Venous ulcer on the hand due to a treatment-related arteriovenous fistula]. / Ulcère veineux de la main secondaire à une fistule artérioveineuse thérapeutique.

BACKGROUND: An arteriovenous fistula of the arm for hemodialysis needs to last long and provide easy access for puncture. CASE-REPORT: A 50 year-old woman, with type 2 diabetes complicated by chronic renal failure, presented with an ulcer on the dorsum of the right hand that had developed over the past year. Humeral artery to basilica vein, side-to-side, arteriovenous fistula in the right arm was created in 1996. In 1999, she received a renal transplant. In 2002, she developed a deep ulcer on the dorsum of the right hand that progressed over one year, without improvement good local treatment. Doppler echography and a fistulography revealed proximal stenosis of the basilica vein, and a less restricted distal stenosis before the shunt. A venous ulcer on the dorsum of the hand due excessive venous pressure in the draining area. DISCUSSION: The complications of arteriovenous fistulas can be severe. Arterial stenosis is frequent and is the consequence of intimal hypertrophy. Chronic ischemia symptoms can be observed, but the hemodynamic loss is usually asymptomatic. When clinical signs are noisy emergency surgery is required. Venous stenosis is responsible for ischemia through venous overload, leading to edema of the arm, and rarely to venous-ulcer type trophic disorders as seen in this patient. Screening for stenosis on the vascular vein network must be systematic before creating an arteriovenous fistula.

[Eruptive pseudo-angiomatosis associated with enterovirus seroconversion]. / Pseudo-angiomatose éruptive associée à une séroconversion pour les entérovirus.

BACKGROUND: Eruptive pseudo-angiomatosis is a benign, acute dermatosis, mostly associated with a viral infection. Skin lesions consist of angioma-like papules, scattered over the skin. Involution is usually spontaneous and swift. CASE-REPORT: We report a case of eruptive pseudo-angiomatosis, which occurred in an immunocompetent 18 year-old adult together with acute gastroenteritis and enterovirus seroconversion. DISCUSSION: Eruptive pseudo-angiomatosis was described for the first time in 1969 in 4 children and then several pediatric cases were reported. Recently, 9 eruptive pseudo-angiomatosis in adults have been described. Our case had some particularities: it occurred in an immunocompetent adult and the skin lesions were angioma-like.

[Unusual cutaneous lesions of familial Mediterranean fever]. / Manifestations cutanées rares de la maladie périodique.

BACKGROUND: Familial mediterranean fever belongs to the periodic fever syndromes. During the attacks, fever is associated with abdominal pain, arthralgia, or both. Cutaneous involvement occurs in 7 to 46 p. 100 of cases and mainly consists in erysipelas-like erythema. We report on three patients treated for familial Mediterranean fever who developed unusual cutaneous lesions. OBSERVATIONS: All the patients had long past history of familial mediterranean fever without cutaneous involvement except, for the third patient who had pseudo-erysipela. The first patient had diffuse Sweet's syndrome-like lesions, the second developed long lasting panniculitis of the thigh and the third had a persistent and lichenified erysipela-like plaque. In two patients, skin histology revealed an inflammatory infiltrate with neutrophils. In all cases, an increase in the colchicine dose led to the rapid resolution of the lesions. DISCUSSION: In our 3 case reports, the lesions were particular because of their atypical clinical appearance, their long duration, and they differed from the usual pseudo-erysipela aspect. Histopathologically, the lesions were similar to pseudo-erysipela, which has led some authors to hypothesize that cutaneous lesions of familial mediterranean fever belong to neutrophilic dermatoses. This hypothesis is supported by the response to the increase in colchicine doses.

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases.

We investigated the possible role of chromosome 10q losses in colorectal cancer metastasis by carrying out an allelic imbalance study on a series of microsatellite instability-negative (MSI-) primary tumours (n=32) and metastases (n=36) from 49 patients. Our results demonstrate that 10q allelic losses are associated with a significant proportion (25%) of MSI- colorectal tumours, but are not involved in the metastatic process. PTEN and BMPR1A, two genes located in the common deleted region, were screened for mutations in samples with loss of heterozygosity. The absence or low frequency of mutations indicates that the inactivation of these genes by deletion of one allele and mutation of the other one plays only a minor role in MSI- tumours.

[Kikuchi's disease associated with cutaneous manifestations evoking Well's syndrome]. / Maladie de Kikuchi associée à des manifestations cutanées évocatrices d'un syndrome de Wells.

BACKGROUND: Wells' syndrome is a dermatological disease with polymorphous lesions characterized histologically by an eosinophilic infiltrate of the dermis with edema and flame figures. Kikuchi's disease is a benign cause of lymphadenitis corresponding histologically to a necrotizing histiocyting adenitis without neutrophils. We describe the association of a Kikuchi's disease and cutaneous lesions similar to Wells'syndrome. OBSERVATION: A 62-year-old man presented over 3 years several simultaneous episodes of left axillary lymphadenitis and of cutaneous lesions compatible with a diagnosis of Wells'syndrome. No precipitating event or disease described with the Wells'syndrome was established. Concerning the axillary nodes, a cancer, a lymphoproliferative syndrome, a systemic lupus and several infectious diseases were excluded. Standard histology and immunochemistry of a lymph node showed signs of Kikuchi's disease. Bilateral anterior uveitis was incidentally detected. The three conditions improved with oral corticosteroids (1 mg/kg/d). DISCUSSION: The patient had Kikuchi's disease and a recurrent dermatosis for which the clinical and histological aspects, the evolution and the absence of arguments for another cause, suggest a Wells'syndrome. Cutaneous manifestations occur in 16 to 40 p. 100 of cases of Kikuchi's disease and often have characteristic histologic features not corresponding to Wells'syndrome. The association of the 2 diseases may be then incidental, despite 4 simultaneous episodes. Two viral agents, VIH and VZV have been associated with the two diseases but do not seem to be the cause in our patient. Concerning the anterior uveitis, a single case of uveitis has been described for each condition.

[Subacute cutaneous lupus gyratus repens]. / Lupus subaigu gyratus repens.

BACKGROUND: Erythema gyratum repens is a rare paraneoplastic eruption. To date, only sixty have appeared in the literature. We report a patient with clinical and histological cutaneous subacute lupus and typical erythema gyratum repens. CASE REPORT: A 86-year-old woman presented with a 2-month history erythematous patches, confined mainly to the trunk, arms, thighs and the face. Cutaneous biopsy was compatible with cutaneous subacute lupus. After 4 weeks of hydroxychloroquine treatment, physical examination revealed erythematous, concentric, serpiginous and scaly bands on the trunk. Erythematous patches persisted on the limbs and the face. Physical examination and investigations in search of an internal malignancy were negative. All cutaneous lesions resolved after three months of chloroquine and dapsone treatment. DISCUSSION: Fourteen cases of erythema gyratum repens have been reported unassociated with underlying malignancy. This eruption usually precedes the occurrence of the neoplasm. Erythema gyratum repens is a migrating gyrate erythema with a serpiginous, concentric appearance creating a wood-grain look in the skin, which is pathognomonic. Histological findings are not specific, showing light parakeratosis and perivascular lymphocytic infiltrate of superficial dermis. Five cases of cutaneous lupus associated with erythema gyratum repens eruption have been reported. Considering the negative check-up in search of internal malignancy on a follow-up period of 20 months, our case is a probably a particular form of subacute lupus.

[Leiomyosarcoma of the superior vena cava: diagnosis by endovascular biopsy]. / Leiomyosarcome de la veine cave superieure: diagnostic par biopsies endovasculaires.

We report the case of a 69-year-old woman with leiomyosarcoma of the superior vena cava presenting with acute superior vena cava syndrome (SVCS). CT and MRI failed to fully characterize the endovascular process. Percutaneous endovascular biopsy, followed by metallic stent placement to treat the SVCS, confirmed the diagnosis. Symptoms resolved within 48 hours and surgical resection of the tumor was performed one month later. Unfortunately the patient died two weeks later because of intracranial hemorrhage.

Lipodystrophy associated with protease inhibitors.

Lipodystrophies, characterized by reduction of subcutaneous fat over part or all of the body surface, are uncommon. Their causes are unknown. Recently, lipodystrophy has been reported in human immunodeficiency virus (HIV)-infected patients taking protease inhibitors, which have been recommended since 1996 as standard therapy for HIV disease in combination with nucleoside analogues. In these cases, lipodystrophy consists of an association of peripheral lipoatrophy with central adiposity. We report four HIV-infected men on protease inhibitors who developed a disfiguring lipodystrophy. In three of them, the protease inhibitor was administered for a mean duration of 21.5 months (range 19-23) with good immunological and virological responses. Patient 4 had been treated for 2 years with successive combinations of protease inhibitors with nucleoside analogues without success. The four patients progressively developed an increase in abdominal girth associated with fat wasting of the face and legs. Two of them had recurrent paronychia of the great toes. Triglyceride levels were moderately increased in all patients, and one had a slightly increased cholesterol level. One patient had elevated glucose and insulin plasma levels during a glucose tolerance test. In two patients, a deep biopsy taken from the thigh showed thinning of the subcutaneous fat without other morphological changes. Computed tomographic scans of the face and abdomen confirmed the loss of almost all subcutaneous fat of the cheek and temporal regions, and abdominal perivisceral fat accumulation. For patients 1-3, the protease inhibitor was replaced by a non-nucleoside reverse transcriptase inhibitor. Nine months later, dysmorphic changes had not regressed, but lipid abnormalities had returned to normal and the paronychia had disappeared.

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

To investigate the nature of somatic von Hippel-Lindau (VHL) mutations, we analyzed 173 primary sporadic human renal cell carcinomas for mutations of the VHL tumor suppressor gene, using polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis (SSCP) of DNA. We detected abnormal SSCP pattern in 73 samples. After sequencing, we identified microdeletions in 58% of cases, microinsertions in 17%, nonsense mutations in 8%, and missense mutations in 17%. Among these mutations, 50% correspond to new mutations. VHL mutations were found only in the nonpapillary renal cell carcinoma (RCC) subtype, as previously reported. To compare somatic and germline mutations, we used the VHL database, which includes 507 mutations. The study of mutational events revealed a significant difference between somatic and germline mutations with mutations leading to truncated proteins observed in 78% of somatic mutations vs only 37% in germline mutations (P < 0.001). We postulated that a specific pattern of VHL mutations is associated with sporadic RCC. This pattern corresponds to mutations leading mainly to truncated proteins with few specific missense mutations. We then analyzed the occurrence of RCC in VHL families, based on the nature of mutations. We observed RCC in at least one member of the VHL families in 77% of cases with mutations leading to truncated proteins versus 55% in cases with missense mutations (P < 0.05). Thus, mutations resulting in truncated proteins may lead to a higher risk of RCC in VHL patients.