[Hypocomplementemic urticarial vasculitis]. / Les vascularites urticariennes hypocomplémentémiques.

Hypocomplementemic urticarial vasculitis (HUV), called anti-C1q vasculitis in the 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides, is a rare systemic vasculitis of unknown etiology, affecting small vessels. HUV is characterized by urticarial lesions, hypocomplementemia and systemic manifestations, mostly musculoskeletal and ocular, but also gastrointestinal, pulmonary and kidney involvement. Anti-C1q antibodies are detected in only half of the patients, and low C1q seems to represent a more sensitive marker. Published data on the therapeutic management are scarce in the literature. Hydroxychloroquine and colchicine seem to represent effective first-line therapies. In patient with relapsing or refractory disease, response rates appeared slightly higher for corticosteroids together with conventional immunosuppressive agents, in particular azathioprine, mycophenolate mofetil, or cyclophosphamide, while a rituximab-based regimen tended to have higher efficacy. The best strategy for treating HUV has yet to be defined.

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.

Inverted duplications with terminal deletions are a well-defined family of complex rearrangements already observed for most of chromosome extremities. Several mechanisms have been suggested which could lead to their occurrence, either through non-homologous end joining, non-allelic homologous recombination, or more recently through an intrastrand fold-back mechanism. We describe here a patient with intellectual disability and pharmacoresistant epilepsy, for which array CGH analysis showed the first interstitial case of inverted duplication with deletion on chromosome 1p. Furthermore, SNP array analysis revealed an associated segmental isodisomy for the distal part of 1p, which led us to consider a replicative mechanism to explain this abnormality. This observation extends the range of this once telomeric rearrangement.

[Epidemiological survey of leprosy conducted in metropolitan France between 2009 and 2010]. / Enquête épidémiologique sur la lèpre en France métropolitaine en 2009 et 2010.

BACKGROUND: There is no official leprosy register in France. The last epidemiological survey on leprosy in metropolitan France was done between 1995 and 1998. We performed a new epidemiological study of leprosy in metropolitan France in 2009 and 2010. PATIENTS AND METHODS: We contacted 85 dermatology and infectious disease units by e-mail or by telephone in order to determine the number of leprosy patients either being followed up or newly diagnosed in 2009 and 2010. RESULTS: The response rate was 87%. In 2010, 127 patients were being followed up in metropolitan France, mostly at dermatology units (78%). Seventy-five patients were on anti-bacillary treatment and the prevalence was 0.011/10,000. There were 39 new cases diagnosed in 2009 and 2010 (mean 19 cases/year) (low case-detection rate: 0.003 per 10,000 inhabitants). Among the new cases, seven patients (18%) were of French origin, with two from metropolitan France and five from French overseas territories. DISCUSSION: Our study confirms the persistence of imported leprosy in France and shows no significant decrease in the number of new cases since 1998 (19 vs. 18 new cases/year) or in disease prevalence (0.013 vs. 0.011 per 10,000 inhabitants). This prevalence is very far removed from the one per 10,000 inhabitants proposed by the World Health Organization as the criteria for endemic disease. Most patients in our survey were immigrants (82%). Lepromatous forms (46%) were more frequent than the tuberculoid forms (33%). All patients had either travelled to or lived in areas of high leprosy prevalence, including metropolitan subjects. CONCLUSION: Leprosy remains present in metropolitan France, and it is still important to continue teaching about it at medical faculties in order to ensure diagnosis of new patients as early as possible.

[Cutaneous revelation of Rosai-Dorfman disease: 7 cases]. / Maladie de Rosai-Dorfman à révélation cutanée: 7 observations.

BACKGROUND: Rosai-Dorfman disease (RDD) is a benign form of non-Langerhans-cell histiocytosis. It is identified by a particular histological profile first observed in febrile lymph nodes. Extranodal sites are frequent. The most common site is the skin, which can reveal the disease despite a difficult and delayed diagnosis. Seven cases of cutaneous revelation of RDD were studied retrospectively in order to delineate the clinical characteristics and facilitate diagnosis and treatment of this extremely rare disease. PATIENTS AND METHODS: Six cases of RDD from 1990 to 2011 were identified in the photographic and histopathological records of the Saint-Louis Hospital and one case came from a Bichat Hospital consultation. The diagnosis was based in all cases on histopathology results. RESULTS: Patients consisted of four men and three women aged between 31 and 69 years. Cutaneous lesions (3 to 20) revealed the disease in all of them and the time from disease onset to diagnosis ranged from six months to five years. The clinical presentation was erythematous or orange popular nodules or plaques, usually on the face. Microscopically, a dense dermal infiltration was observed, in some cases extending into the subcutaneous tissue, with pale histiocytic cells characterised by emperipolesis, plasma cells, lymphocytes, some neutrophils and variable fibrosis. The diagnosis, initially erroneous in 4 cases, was rectified by a second reading of histopathology slides, and immunohistochemical studies showed expression of S-100 protein in histiocytes but not CD1a. Three patients had pure cutaneous RDD. Two neurological sites and one nasal site were also found, with one ENT site and sequelae of previous uveitis in one patient. All extra-cutaneous sites were identified by clinical examination. Different treatments were proposed according to the sites and impact of the disease. In one case, the lesions regressed spontaneously after 18 months. COMMENTS: Few RDD series have been published and they mainly concern Asian patients. The ethnic origin of our patients was varied. The main findings were: 1) common clinical findings (orange or erythematous papules or nodules, mostly on the upper body), which should alert the dermatologist and histopathologist to the possible diagnosis of RRD; 2) the possibility, already mentioned in the literature, of spontaneous regression and a good prognosis; 3) the need for thorough evaluation by thoracic, abdominal and cerebral CT (computed tomography) or more a PET (positron emission tomography) scan to screen for potentially dangerous visceral sites, and also clinical follow up.

[Diagnosis and treatment of leprous neuropathy in practice]. / Diagnostic et traitement de la neuropathie lépreuse en pratique.

Leprosy still affects 240,000 persons every year in the world. It is a particularly common cause of neuropathy and severe disabilities in developing countries. With increasing migration, new cases of leprosy are regularly diagnosed in developed countries, where it still remains rare and so underestimated. Cutaneo-nevritic leprosy is the most frequent form of leprosy. It may be diagnosed by the clinical features and the cutaneous histology and bacteriology. Neuritic leprosy without obvious skin lesions is reported in 5 to 15% of leprosy patients. It must be suspected in persons from areas of endemic disease presenting with nerve thickening and associated nerve deficit. Nerve biopsy is essential for diagnosis. However search for bacilli in cutaneous samples may be of great help and avoid nerve biopsy. Acute and severe neuritis occurs during reactional states, reversal reaction (Type 1) and erythema nodosum leprosum (Type 2). Multidrug therapy is advocated. The treatment of acute neuropathy needs a supplementary medical and sometimes surgical treatment.

[Myeloproliferative hypereosinophilic syndrome revealed by bipolar mucosal ulcerations]. / Syndrome hyperéosinophilique d'origine myéloproliférative révélé par des ulcérations muqueuses bipolaires.

BACKGROUND: Hypereosinophilic syndrome (HES) is defined as an eosinophil count equal to or greater than 1.5 G/L for more than 6 months with organ damage (heart, nervous system, lung, etc) after the exclusion of other common causes of eosinophilia. A myeloproliferative variant of HES with FIP1L1-PDGFRα fusion gene inducing constitutive activation of a tyrosine kinase receptor has been characterized. We report a case in which the diagnosis was revealed by mucosal erosions and ulcerations. PATIENTS AND METHODS: A 50-year-old man reported bipolar erosions. He presented with an erosion on the glans, an ulceration on the lower lip and mild dermographism. He had an eosinophil count of 7.5 G/L (n<0.7) and raised LDH at 520 IU/L (n<480). Screening for the usual causes of eosinophilia was negative. Histology of the labial ulceration showed a polymorphous inflammatory infiltrate containing eosinophils. A chest scan demonstrated a ground glass-like pulmonary infiltrate and broncho-alveolar lavage revealed eosinophilic alveolitis. The myelogram showed rich bone marrow with eosinophils. FIP1L1-PDGFRα fusion transcript was detected in the blood. Imatinib (Glivec(®)) was initiated and a favourable outcome was achieved within a few months and maintained after one year of treatment. DISCUSSION: Cutaneous signs are frequent features of HES. They are polymorphous and include pruritis, erythematous rash and urticaria. Mucosal ulcerations are uncommon and appear more frequently with the myeloproliferative FIP1L1-PDGFRα-associated variant of HES. Early diagnosis allows the onset of a targeted treatment with imatinib that may prevent the apparition of organ damage.

[Gastric sarcoidosis revealed by cutaneous follicular sarcoidosis]. / Sarcoïdose gastrique révélée par une sarcoïdose cutanée folliculaire.

BACKGROUND: Sarcoidosis is a disease well known to dermatologists because of the frequency of cutaneous involvement. Routine screening is performed for involvement of the lungs, lymph nodes, eyes, liver and heart. However, gastro-intestinal sarcoidosis is both rare and frequently silent, and it thus often goes undiagnosed. We report the case of a Caribbean woman whose cutaneous lesions allowed a posteriori diagnosis to be made of gastric sarcoidosis. PATIENTS AND METHODS: A 45-year-old Caribbean woman consulted for diffuse erythematous or hypochromic, squamous and follicular micropapular lesions associated with inflammatory rheumatoid arthritis. Clinical examination and laboratory data led to a diagnosis of cutaneous sarcoidosis. It was later discovered that she had presented epigastric pains a few months earlier and that she had undergone gastroscopy and gastric biopsies. Histopathology had revealed non-caseating epithelioid-cell granulomas with giant cells, but no further exams were performed. The patient was diagnosed a posteriori with cutaneous-articular and gastric sarcoidosis. DISCUSSION: In contrast with hepatic involvement, which is frequent and well-known, sarcoidosis affecting the gastro-intestinal tract is rare and poorly known. This form of the disease is frequently clinically silent and is thus probably under-reported. The stomach is the site most frequently affected. Gastric sarcoidosis is seen in some 10% of patients with systemic sarcoidosis and is symptomatic in less than 1% of cases. It is important to diagnose these forms since they may be associated with a certain degree of morbidity.

[Bilateral inguinal lymphadenopathy and erythema nodosum: an uncommon presentation of cat scratch disease]. / Adénopathies inguinales bilatérales et érythème noueux: une présentation originale de la maladie des griffes du chat.

Cat scratch disease is usually revealed by a proximal lymphadenopathy related to the inoculation site. We report a 22-year-old female who presented with erythema nodosum and bilateral inguinal lymphadenopathy. Serologic test and lymph node PCR detection for Bartonella henselae were negative. Nevertheless, the patient received doxycycline and clinical manifestations rapidly resolved. A follow-up detection of IgM and IgG against Bartonella henselae performed 1 month later was positive. This case report illustrates an original presentation of cat scratch disease and reminds us the lack of sensitivity of laboratory investigations.

[Leprosy in children: A diagnosis that must not be missed]. / Lèpre de l'enfant : un diagnostic à ne pas méconnaître.

BACKGROUND: With 254,525 new cases reported in 2007, leprosy is the worlds' second most widespread form of mycobacteriosis. According to the WHO, eradication of leprosy as a public health problem (defined by less than one case per 10,000 people) has been globally achieved. High endemic zones, however, still subsist. Leprosy rates among children, which reflect a country's endemic level, ranged from 0.55 to 19.2 % in 2006. Due to world population migrations, cases of leprosy are now seen in mainland France, in both children and adults. PATIENTS AND METHODS: We describe three leprosy patients aged under 15 years treated at the Dermatology Unit of Saint Louis Hospital between 1st January 2002 and 31st December 2008. The three cases described account for 3 % of new patients treated for leprosy at Saint Louis Hospital over this 7-year period. All were born in an endemic country. Lesions appeared 18 months after arrival in France in two cases and clinical diagnosis was made in only one case. Due to absence of sensory loss in the lesions, diagnosis was reliant upon histopathological examination in two cases. CONCLUSION: Leprosy should be suspected in children from endemic countries presenting skin lesions, particularly hypochromic lesions, even if there is no sensory loss, regardless of how long they have been living in France.

[Pneumatosis cystoides intestinalis complicating paraneoplastic dermatomyositis]. / Pneumatose kystique intestinale compliquant une dermatomyosite paranéoplasique.

BACKGROUND: Pneumatosis cystoides intestinalis (PCI) is a rare condition characterized by the presence of gas-filled cysts within the wall of the digestive tract. Classically, it occurs in lung or colon diseases but rarely in patients with collagen disorders. We report a new case of PCI occurring during the course of paraneoplastic dermatomyositis. PATIENTS AND METHODS: A 53-year-old woman was diagnosed with dermatomyositis two years ago. Relapse of dermatomyositis preceded the discovery of metastases for which chemotherapy was initiated with 5-fluorouracil and vinorelbine. Three months later, she was admitted to our department for abdominal pains. On physical examination, the abdomen was distended with normal peristalsis. There was no evidence in favour of active dermatomyositis. Abdominal computed tomography scan showed gas collection in the mesentery, revealing the PCI. There was also pneumoperitoneum. The patient slowly improved with symptomatic treatment. DISCUSSION: PCI is uncommon in systemic diseases and extremely rare in dermatomyositis. The pathogenesis and aetiology of PCI are unknown in most cases. In collagen diseases, several hypotheses have been suggested: digestive hypokinesia, corticosteroid-induced ulceration and intestinal vasculitis. In our patient, two factors contributed to PCI: corticosteroid administration and a chemotherapeutic agent (vinorelbine), resulting in severe constipation. Diagnosis of PCI is based on abdominal computed tomography. Pneumoperitonitis is frequent. Although rare, the diagnosis of PCI must be evoked in collagen disorder patients presenting nonspecific abdominal symptoms.

[Sensory-motor neuropathy: a slow and misleading case of leprosy]. / Neuropathie périphérique sensitivomotrice : une forme lente et trompeuse de maladie de Hansen.

The diagnostic process of sensory-motor neuropathies is difficult. Atypical variants and rare etiologies also contribute to delay the diagnosis. We report the case of a 70-year-old woman with slowly progressive asymmetric axonal sensory-motor neuropathy. Leprosy was identified after an eight-year delay. Nerve biopsy was required to establish the diagnosis: electron microscopy revealed debris of Hansen's bacillus in the nerve. Treatment was fully curative after several months. Leprosy is a rare cause of neuropathy in Europeans. Systematic inquiry about travel to endemic areas would be helpful in establishing the diagnosis. In such cases, nerve biopsy is crucial.

[Polyarthritis and papular eruption revealing leprosy]. / Polyarthrite et éruption papuleuse révélant une lèpre.

Leprosy is generally revealed by cutaneous lesions often associated to nerve impairment. Rarely, it may be revealed by polyarthritis. The diagnosis, often delayed in the cutaneous-nevritic form because of the low prevalence of the disease in metropolitan France, is very difficult in case of rheumatic presentation. We report the case of a 28 year-old woman from Mali, who was diagnosed with lepromatous borderline leprosy with reversal reaction occurring in the postpartum as she presented with polyarthritis and skin lesions.

[Malassezia folliculitis: characteristics and therapeutic response in 26 patients]. / Folliculites à Malassezia: Caractéristiques et réponses thérapeutiques chez 26 malades.

BACKGROUND: Malassezia folliculitis is most often described in patients living in hot and humid countries or in immunocompromised patients. Its frequency in France is unknown. We report 26 cases diagnosed at Saint-Louis Hospital between May 2002 and April 2004. The clinical features, the contributing factors, the results of direct mycological examination and/or histology and the efficacy of antifungal treatments were compared to the literature. PATIENTS AND METHODS: The inclusion criteria were the presence of folliculitis on the trunk confirmed by direct microscopy and/or histopathology showing abundant yeast cells in the follicles. RESULTS: Patients comprised 22 men and 4 women (M/F sex ratio: 5: 5) with a mean age of 46 years. Five patients (19%) were immunocompromised. In normal patients, the duration of folliculitis was long with a mean of 61 months. The eruption was typical, with follicular papules and superficial pustules distributed predominantly on the trunk. Itching was frequent (70%). Direct microscopy was more often positive than histology (89% vs 33%). Some sixty-five percent of the patients had been previously treated by topical or systemic antibiotics or anti-acne drugs, which was ineffective in all cases. Cure with topical ketoconazole, oral ketoconazole alone or in combination with topical ketoconazole occurred respectively in 12%, 75% and 75% of patients, but with consistent recurrence within 3 to 4 months after cessation of treatment. DISCUSSION: Malassezia folliculitis is probably misdiagnosed, as suggested by the long time between onset and diagnosis and the high frequency of non-antifungal treatments prescribed. In our study, direct mycological examination provided more effective diagnosis than histology. Treatment is difficult especially because of the high frequency of relapses. CONCLUSION: A diagnosis of Malassezia folliculitis should be considered in young adults or immunocompromised patients with an itching follicular eruption. Further therapeutic trials are needed due to the frequency of relapse.

[Erysipelas-like dermatitis of the legs revealing aspergilloma of the maxillary sinus]. / Dermatite érysipéloïde des membres inférieurs révélant un aspergillome du sinus maxillaire.

BACKGROUND: Skin signs is associated with Aspergillus are rare and are seen principally in immunodepressed patients. Distinction is generally made between primary skin aspergillosis, caused by direct cutaneous inoculation with the offending organism, and secondary skin aspergillosis, associated with peripheral emboli from an area of chronic pulmonary or sinus mycetoma. There have been rare reports of indirect satellite skin signs resulting from Aspergillus infection, and below we present such a case. PATIENTS AND METHODS: A 40 year-old immunocompetent man consulted for erysipeloid plaques on the lower limbs recurring over a period of seven months. X-rays and CAT scans of the sinus demonstrated asymptomatic axillary sinusitis probably caused by Aspergillus. The diagnosis was confirmed by surgery, which resulted in cure without additional antifungal treatment. The inflammatory syndrome subsided and after 15 months, there was no recurrence of lesions. DISCUSSION: The absence of relapse following treatment of the focus of aspergillosis forms a major argument in favour of a causal relationship between the erysipeloid dermatitis and the sinus mycotic infection. The hypothesis of a septic embologenic mechanism within the sinus was abandoned in favour of a mechanism similar to streptococcal nodular erythema, seen in diseases involving immune complexes, possibly caused by allergy to Aspergillus proteins. This case history demonstrates the existence of satellite skin signs of Aspergillus infection indicative of neither primary nor secondary aspergillosis.