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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.

Resume Introduction La lepre ne fait pas l’objet d’une declaration systematique dans notre pays. La derniere enquete epidemiologique sur cette maladie en France metropolitaine a porte sur les annees 1995 a 1998. Nous avons donc realise une nouvelle enquete en 2009 et 2010. Patients et methodes Quatre-vingt-cinq services de dermatologie ou d’infectiologie des centres hospitaliers universitaires (CHU) de France metropolitaine ont ete contactes par e-mail ou par telephone afin de recenser les patients lepreux suivis ou diagnostiques en 2009 et 2010. Resultats Le taux de reponse etait de 87 %. En 2010, 127 patients lepreux etaient suivis, principalement dans des services de dermatologie (78 %). Soixante-quinze patients recevaient un traitement antibacillaire. La prevalence a ete estimee a 0,011 pour 10 000 habitants en 2010. Trente-neuf nouveaux cas (moyenne de 19 par an) avaient ete diagnostiques entre 2009 et 2010, soit un taux de detection annuel bas de 0,003 pour 10 000 habitants. Parmi les nouveaux cas, sept patients (18 %) etaient de nationalite francaise : deux d’origine metropolitaine et cinq originaires des departements d’outre-mer. Discussion Notre etude confirme l’existence de la lepre en France metropolitaine. Elle ne montre pas de diminution significative du nombre de nouveaux cas depuis la derniere etude faite entre 1995 et 1998 (18 cas par an), ni de la prevalence de la maladie (0,013 pour 10 000 habitants). Cette prevalence est tres eloignee de celle de un pour 10 000 habitants proposee par l’Organisation mondiale de la sante comme critere d’endemicite. Dans notre enquete, la population immigree reste majoritaire (82 %). Les formes lepromateuses (46 %) sont plus frequentes que les formes tuberculoides (33 %). Un sejour en pays d’endemie lepreuse a ete mis en evidence pour tous les patients, y compris les sujets metropolitains. Conclusion La lepre reste presente en France metropolitaine, d’ou l’interet de poursuivre son enseignement a la faculte afin de depister le plus precocement possible les malades.

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.

La enfermedad de Hansen o lepra es la segunda micobacteriosis mundial despues de la tuberculosis, con una incidencia aproximada de 255.000 nuevos casos en 2007. Segun la Organizacion Mundial de la Salud (OMS), la lepra ya no constituye un problema de salud publica a escala mundial (menos de 1 caso por 10.000 habitantes), pero todavia persisten zonas con una elevada endemicidad. En Francia metropolitana, la enfermedad ya no existe de forma autoctona, pero regularmente se diagnostican nuevos casos procedentes de los DOM-TOM (departamentos y territorios de ultramar) o importados de otros paises. Es fundamental que los dermatologos sepan reconocer los primeros signos, esencialmente cutaneos, porque aunque la poliquimioterapia (PQT) antibacilar introducida en 1982, hoy dia permite curar a los pacientes, solo un diagnostico precoz evita la aparicion de secuelas neurotroficas que agravan notablemente el pronostico de la enfermedad.

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.

Resume Introduction La pneumatose kystique intestinale (PKI) est une entite rare definie par la presence de kystes gazeux ou pneumokystes dans la paroi du tractus digestif. Dans la plupart des cas, elle complique une affection respiratoire ou digestive. Exceptionnellement, elle est decrite au cours de maladies systemiques. Nous rapportons un cas de PKI survenue au cours d’une dermatomyosite (DM) paraneoplasique. Observation Une femme de 53 ans etait suivie depuis deux ans pour une DM paraneoplasique (cancer du sein) traitee par corticotherapie generale, immunoglobulines intraveineuses et methotrexate. Une rechute de la DM precedait de quelques mois la decouverte de metastases diffuses pour lesquelles une chimiotherapie par 5-fluoro-uracile et vinorelbine etait debutee. Trois mois plus tard, la patiente etait hospitalisee pour asthenie majeure et douleurs abdominales evoluant depuis plusieurs semaines. Cliniquement, l’abdomen etait meteorise, le transit etait conserve. Il n’existait aucun signe clinique ou biologique de rechute de la DM. Le scanner abdominal montrait des images typiques de pneumatose kystique jejunale associees a un pneumoperitoine. L’evolution etait favorable sous traitement symptomatique. Discussion La survenue d’une PKI au cours d’une maladie systemique est rare ; elle est exceptionnelle au cours des dermatomyosites. Son etiopathogenie reste hypothetique. Dans les connectivites, plusieurs mecanismes sont evoques : hypomobilite intestinale liee a la pathologie systemique ou d’origine iatrogene, ulceration de la muqueuse intestinale secondaire a une corticotherapie generale ou a une vascularite digestive. Dans notre observation, plusieurs facteurs pouvaient etre incrimines ; en particulier la corticotherapie generale au long cours et la chimiotherapie par vinorelbine dont l’un des effets secondaires est la survenue d’une constipation severe. Le diagnostic de certitude de la PKI repose sur le scanner abdominal. Elle se complique frequemment d’un pneumoperitoine. Malgre sa rarete, ce diagnostic doit etre evoque devant une symptomatologie digestive non specifique chez des patients presentant une connectivite.

Resume La lepre se revele habituellement par des lesions cutanees souvent associees a une neuropathie peripherique. Ce n’est qu’exceptionnellement qu’elle peut realiser un tableau inaugural de polyarthrite. Le diagnostic, deja souvent tardif devant le tableau cutaneonevritique en raison de la faible prevalence et de la meconnaissance de la maladie en France metropolitaine, est particulierement difficile dans le cas d’une presentation rhumatologique. Nous rapportons l’observation d’une femme de 28 ans, d’origine malienne chez qui une lepre borderline lepromateuse avec reaction de reversion a ete decouverte dans le post-partum a l’occasion d’un bilan de polyarthrite associee a des lesions cutanees.

Resume La presentation classique de la maladie des griffes du chat est une adenopathie dans le site de drainage d’une griffure. Une patiente presentait un erytheme noueux associe a des adenopathies inguinales bilaterales avec une serologie initiale et une PCR sur ganglion amplifiant le gene codant pour l’ARN 16S de Bartonella henselae negatives. L’evolution etait favorable sous doxycycline, prescrit malgre la negativite de la serologie. Les IgG et IgM specifiques se positivaient lors de la deuxieme determination realisee un mois plus tard. Cette observation illustre une presentation clinique originale et le probleme de sensibilite des examens complementaires dans cette affection.

Lichen planus pemphigoides (LPP) is a rare and controversial disease. It is characterized by bullae arising on lichen planus papules and on uninvolved skin, subepidermal bullae in histology, and linear deposits of IgG and C3 along the basal membrane zone on immunofluorescence of peribullous skin. Our goal was to identify the localization of the target antigen in cases of LPP. Five patients diagnosed with LPP on clinical, histological and immunofluorescence criteria were explored by immunoelectron microscopy and immunoblot. Our results show that the target antigen in LPP is not unique. The localization of the immune deposits was consistent with a diagnosis of bullous pemphigoid in two cases, of cicatricial pemphigoid in two cases and of epidermolysis bullosa acquisita in one case. Our study supports the view that LPP is a heterogeneous condition in which lichen planus may induce different subepidermal acquired bullous dermatoses.

In vertebrate tissues, cell integrity is maintained by at least three mechanisms. During an immune response, injured cells are eliminated by cytotoxic lymphoid cells that produce perforin, granzyme B, and Fas ligand (FasL). Second, epithelial cells can produce FasL as an immunosuppressive protein, probably to protect the tissue against immune-mediated damage. Third, locally secreted antimicrobial peptides can be operative in the protection of animal and human epithelia. In this work, as another contribution to local mechanisms of host defense, the ability of human epidermal keratinocytes to produce cytotoxic proteins was investigated. To address this question, freshly isolated human epidermal cells and keratinocytes grown in vitro were studied. Freshly isolated epidermal cells did not express the cytolytic proteins. In contrast, keratinocyte growth to confluence was associated with granzyme B, perforin, and FasL mRNA and protein synthesis. These proteins were secreted in the culture medium. Further analysis showed that they were identical with the ones used by cytotoxic lymphocytes. Their function was then investigated with a view to a potential role in epidermal cell integrity. The data showed that activated human keratinocytes were able to protect against invading pathogens through granzyme B expression. This was demonstrated by the ability of granzyme B to greatly decrease the bacterial growth of Staphylococcus epidermidis. In addition, keratinocytes expressing FasL were found to prevent immune epidermal cell damage. Apoptosis of Fas-sensitive T cells occurred during coculture with confluent epidermal keratinocytes and was largely reduced by the addition of a FasL inhibitor. The data favor keratinocyte involvement in the regulation of dermal inflammatory responses.

Pemphigus has been largely studied in developed countries (North America and Europe) and in Brazil. In these geographical settings, pemphigus presents two very different epidemiological and clinical patterns. Little is known about pemphigus in other regions of the world, particularly in Africa. We report here a study of 30 cases of pemphigus observed in Bamako, Mali. Our data suggest that pemphigus in this area presents a distinctive pattern. Our cases of pemphigus were diagnosed on the basis of clinical, histological and direct immunofluorescence studies. We estimated the annual incidence in the Bamako region to be 0.29 cases per 100,000 inhabitants. There was no endemic focus in Mali. The disease was observed mainly in women (24 of 30; 80%), especially those older than 40 years (mean age, 46.7 years), and in the Fulani ethnic group (10 of 30; 33%). Our study group was composed of 25 cases of pemphigus foliaceus (PF) (83%), four cases of pemphigus vulgaris and one case of pemphigus vegetans. Pustules with hypopyon were observed in 11 patients (37%). A diffuse verrucous change in the skin was noted in four cases of erythrodermic PF. In 16 patients with PF, localized verrucous lesions mimicking seborrhoeic keratoses were observed when oral corticosteroid treatment was decreased. Histopathological examination demonstrated eosinophilic spongiosis in 50% of patients. These data suggest that pemphigus in Mali differs from the two main known patterns of the disease: the North American/European one, and the Brazilian pattern, with which it shares the predominance of superficial forms but otherwise differs in many features.

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.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.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.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.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.

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.

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.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 (n0.7) and raised LDH at 520 IU/L (n480). 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.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.

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.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.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.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.

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.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.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.

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.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.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.

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.

International audience; 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.

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.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.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.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.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.

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.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.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.

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.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.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.

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.

Erythema nodosum leprosum (ENL) is a well-known immunological serious complication affecting lepromatous multibacillary leprosy patients. For a long time, ENL has been regarded as an immune complex-mediated disease or Arthus phenomenon. Recently, it has been reported that ENL was associated with high serum tumor necrosis factor-alpha (TNFa) levels, suggesting that this cytokine could also play a central role in the manifestations of ENL. Thalidomide (TH) and systemic steroids (S), both TNFa production inhibitors, are the two current effective drugs for the management of ENL. However, TH is rarely available in leprosy endemic countries, and its teratogenicity and neurotoxicity strongly limit its use. Moreover, the morbidity of S and the frequent steroid-dependence of ENL also create real therapeutic problems. Recently, the efficacy of pentoxifylline (PTX), which also inhibits in vitro and in vivo production of TNFa, has been suggested for ENL treatment. We report our experience on its use for the treatment of 15 leprosy patients suffering from a first ENL. attack. (11 cases), a chronic steroid-dependent ENL (3 cases) or chronic steroid- and thalidomide-dependent ENL (1 case). PTX has been given at 800 mg t.i.d, (2 cases) or 400 mg t.i.d. (13 cases) doses. The patients received PTX at the initiating dosage until complete clinical cure. At the end of ENL attacks, PTX was either abruptly stopped or tapered down over the next 4 months. In ten of 11 patients who developed ENL for the first time, the systemic symptoms and neuritic pains disappeared within one week; at three weeks, half of the patients were cured and the other half had striking clinical improvement; complete cure was obtained within 7 to 35 days (mean: 27 days). A relapse occurred within 2-3 months in the 5 patients, in which PTX was abruptly stopped. In contrast, no relapse occurred in the patients who benefited from decreasing doses of PTX. Recurrent ENL episodes also responded well to PTX. The 3 patients who had chronic steroid-dependent ENL failed to show any improvement after 3 to 6 weeks of PTX. In contrast, steroid therapy could be stopped in the steroid- and thalidomide-dependent patient. Our results confirm the action of PTX if it is slowly tapered down (4 months seem sufficient) and not abruptly to avoid relapses. As it is safe use, PTX could constitute the first line of ENL attack treatment.

During the last 20 years, the global leprosy situation has strikingly changed with a decrease of cases from 12 millions estimated cases in 1982 to 600,000 registered cases in the year 2000. However, during the past 15 years, about 700,000 new cases are still detected annually. The systematic use of multidrug therapy (MDT), as recommended by a WHO Study Group in 1982, has proven its efficacy as assessed by the low reported relapse rate (less than 1% per year). The initial PCT schedule has been modified several times, but this PCT remains the recommended chemotherapy for the great majority of patients. New potent antibacillary drugs (ofloxacin, minocycline, clarithromycine) have been discovered; however, their current use is limited and should remain limited until under way trials could confirm their efficacy. With the use of PCT, the frequency of immunologically mediated reactional states have changed. The occurrence of reversal reaction, (type 1 reaction) has significantly increased while that of erythema nodosum leprosum (ENL, type 2) appeared less common. Because of the high risk of neurological permanent damage, reversal reaction needs to be diagnosed and treated as soon as possible. Here in, the current antibacillary and antireactionnal treatments are being reviewed.

Leprosy is a chronic infectious disease due to Mycobacterium leprae (M. leprae) or Hansen’s bacillus that mainly affects the skin and the peripheral nerves. It is a very unevenly distributed disease between and within countries. In 1999, the World Health Organization (WHO) reported a global prevalence rate of about 1.4 per 10 000 population. Thirteen endemic countries contributed to 90% of the global burden with a combined prevalence of 4.4 per 10000. The prevalence by WHO Regions was of 4.3 in South-East Asia, 1.1 in the Americas, 1.2 in Africa, 0.2 in the Eastern Mediterranean and 0.1 in Western Pacific. In Europe, small endemic areas persist in Portugal, Spain, Greece and Sicily. However, most patients seen in Europe come from countries where it is endemic.

We report 2 new cases of immuno-allergic side-effects of rifampicin (RMP), occurred in leprosy patients treated by multidrug therapy. These cases illustrate the various features of this type of complication. In one case, the patient exhibited few days after restarting of RMP (600 mg daily), a typical flu syndrome associated to a thrombopenia. Previously, the patient had received discontinued RMP (300 mg, 3/5 days) that had to be stopped after 11 months for "general malaise" that in fact corresponded to a flu syndrome. The second patient developed a flu syndrome associated with a diffuse eczematous eruption one year after the onset of daily RMP (600 mg). Anti-RMP antibodies were detected only in the first case. The pathogenic mechanisms and the clinico-biologic features are discussed.

The last epidemiology study on leprosy in metropolitan France was done in 1970 - 1978. We performed a new evaluation of the situation close to 2000, the date the World Health Organization has targeted for the "eradication of leprosy".This retrospective study was conducted on data from 1995-1998 obtained from inquiries to 105 dermatology (56), infectious disease (41) and neurology (8) units.Response rate was 86 p. 100. In 1998, 232 patients were under surveillance, mainly in dermatology units (81 p. 100). Sixty-nine patients were taking an antibacillar treatment, giving a very low prevalence of 0.013 per 10 000 inhabitants. On the average, 18 new cases were observed per year over the four years studied (range 16-20). Thirty-seven percent of these new cases were French, from metropolitan areas (38 p. 100) or from overseas (62 p. 100).Our study confirms the persistence of new cases of leprosy identified in metropolitan France over these last years. The number is quite similar to that noted in the earlier survey, excepting the years 1975-1997 when there was an influx of immigrants from Southeast Asia that led to a rise in the number of new cases. Approximately one-third of the cases in the present survey were in French from metropolitan areas or overseas departments. None of these cases observed originated in metropolitan France since a trip to an endemic area was found in all new cases and no new case was observed in the families of newly identified patients.

Relapsing polychondritis is a rare systemic disease. Skin involvement occurs in 20 to 50 % of cases. Cutaneous signs are most often related to a leukocytoclastic vasculitis. Association of relapsing polychondritis with neutrophilic dermatosis have also been reported. We report the first case of an erythema annulare centrifugum-like dermatosis associated with relapsing polychondritis, with a two years delay between both conditions.A 74 year-old man was seen for papulo-erythematous centrifugal annular lesions that appeared 18 months earlier in a context of bad general conditions. Biological tests were normal. Several skin biopsies were performed, showing at the beginning features of drug reaction and then of lupus-lichen. Treatment with hydroxychloroquine, topical corticosteroids, dapsone and thalidomide were unsuccessful. In the following months, the patient developed fever and relapsing bronchitis. Suddenly, a chondritis of the ears appeared, leading to the diagnosis of relapsing polychondritis. All the cutaneous, chondritic and respiratory signs disappeared with oral steroid therapy. Two years after the diagnosis of relapsing polychondritis the patient developed refractory anemia.Cutaneous signs of relapsing polychondritis are frequent and may occur several months or years before the chondritis. They are polymorphous, but to the best of our knowledge, a clinical aspect of erythema annulare centrifugum has never been described. Our observation recalls the sometimes long delay between the cutaneous and the chondritic signs of relapsing polychondritis and the high frequency of dysmyelopoiesis in relapsing polychondritis with cutaneous involvement.

Mayotte French island of the Comoro Islands in the Indian Ocean, is located in a leprosy endemic area including the other islands of the archipelago and Madagascar island. As the last Hansen's disease epidemiological study in the island have been reported in 1982, we achieved a new valuation by a retrospective study on the 1990-1998 period. Our investigation showed that the disease was still endemic with a prevalence of 32/100,000 population in 1998 and an high annual new case detection rate (14 to 31/100,000 population). The profile of the newly detected cases was the same that reported at the world level (prédominance of males, less than 45-years old adults and paucibacillary forms) with two exceptions: the high percentage of children below 15 years of age (28.2%) and of family cases (25.3%). Moreover, 12.6% of the new cases exhibited disabilities grade 2 at the time of the diagnosis. These features emphasize the need for an enhanced leprosy control in this island which has a well-developed medical assistance.

The aim of this study was to analyse the association between human herpesvirus type 8 (HHV8) and sarcoidosis. Using nested polymerase chain reaction (PCR), we tested the presence of HHV8 DNA sequences in 13 skin specimens and peripheral blood mononuclear cells from eight patients suffering from sarcoidosis. We also looked for the presence of HHV8 antibodies in the sera of 28 patients with sarcoidosis using three techniques: two indirect immunofluorescence assays and an enzyme-linked immunosorbent assay with recombinant capsid protein fragment encoded by open-reading frame 65. HHV8 PCR analysis was negative while HHV8 serological studies showed an overall prevalence of 18% among patients suffering from sarcoidosis: 43% in patients from sub-Saharan Africa, 17% in patients from Northern Africa, 12.5% in patients from the French West Indies and 0% in French patients. In conclusion, our results do not indicate an association between HHV8 and sarcoidosis but reflect the seroepidemiology of this virus in different geographical regions.

Lichen planus pemphigoides is a rare acquired auto-immune bullous dermatosis which usually affects adults. Only four cases have been reported in children. We describe a new case of lichen planus pemphigoides in a child unusual by its association with an evolutive hepatitis B and by the occurrence of a lichen planus relapse.A 10-year-old African boy has been seen for a pruritic dermatosis with papular lichenoid lesions on the trunk and the limbs and blisters on the lower limbs, both arise on lichen planus lesions and normal skin. The diagnosis of lichen planus pemphigoides was confirmed by histology which showed the features of lichen planus on a papule and of a sub-epidermal split on a bulla and by direct and indirect immunofluorescent studies which revealed an IgG and C3 linear deposit at the dermo-epidermal junction and the presence of circulating IgG anti-basement membrane zone antibodies. Laboratory investigations showed an evolutive hepatitis B (HBsAg +). Healing was obtained by dapsone and topical steroid therapy. Eight months after withdrawal of treatment the patient presented a non-bullous relapse of lichen planus. The histology showed a typical aspect of lichen planus and the immunofluorescence studies were negative. The hepatitis B serology was unchanged. The lesions rapidly improved with topical steroid and coaltar. One year later the patient exhibited few slight lichen planus lesions on the limbs and the hepatitis B serology showed the onset of sero-conversion.Lichen planus and lichen planus pemphigoides are probably variants of the same disease. Their successive occurrence in our case report favours this hypothesis as does the association with an hepatitis B.

Excepting the endemic foliaceus form, childhood pemphigus is uncommon. We report two cases of pemphigus foliaceus in children with typical clinical manifestations.Case n(o) 1. A 5-year-old girl was seen for a vesiculobullous crusted dermatosis involving the trunk and the face which had developed over the last 5 months, predominantly in periorificial and fold localizations. Histology showed intragranulous acatholysis. Direct skin immunofluorescence was positive for anti-intercellular substance IgG and C3. Indirect immunofluorescence was positive for anti-intercellular substance antibodies at 1/500. The diagnosis of superficial pemphigus was retained and the child was given dapsone associated with systemic prednisone (1.5 then 2.5 mg/kg/d). Dapsone was stopped on day 15 due to poor hematological tolerance. Outcome was favorable allowing withdrawal of prednisone at 18 months. Case n(o) 2. A 6-year-old had developed since the age of 18 months a generalized and polycyclic pruriginous erythemato-squamous dermatosis with oozing discharge which started and predominated on the face (periorificial zones). Trace element (copper, selenium, zinc) and vitamin (A, E and B1) assays were within the normal range. Glucagon was normal. Histological examinations of several biopsies were non-contributive. Diagnosis of pemphigus foliaceus was finally obtained after repeated direct immunofluorescence tests which revealed anti-intercellular substance IgG. Indirect immunofluorescence was negative. The child was given prednisone (2 mg/kg/d).In children, pemphigus foliaceus has an exceptional frequency and diagnosis is often made quite late (mean 8 months). The diagnosis should always be entertained in children who develop chronic extensive erythemato-squamous and crusted dermatosis, even if formation is absent. Direct skin immunofluorescence confirms the diagnosis and should be repeated if negative in cases with highly suggestive clinical presentations. It would be reasonable to attempt "minor" treatments as the first line approach. Systemic corticosteroids are however the treatment of choice despite the risk of classical side effects. Childhood pemphigus foliaceus is not an attenuated clinical form of adult pemphigus. Mortality is not negligible and is close to that in adults.

Adult T-cell leukemia-lymphoma (ATL) can occur in siblings infected with HTLV-1.Two Caribbean siblings developed ATL a few years apart. One case has been reported previously. Both individuals had peripheral lymph node T-cell lymphoma and a few atypical lymphocytes on blood smear. Lymphocytosis, bone marrow biopsy, abdominal computed tomographic scanning, and chest radiography were normal. Clonal rearrangement of T-cell receptor was present in skin lesions for both patients and in the blood for one. HTLV-1 serology was positive. Clonal integration of HTLV-1 provirus was demonstrated in skin lesions in one patient and in blood lymphocytes in the other. Chemotherapy, then interferon alpha, were unsuccessful in the first patient. Topical metchloretamine was partially effective for the second patient.ATL in siblings is explained by mother-to-child transmission of HTLV-1 infection during breastfeeding.

In vertebrate tissues, cell integrity is maintained by at least three mechanisms. During an immune response, injured cells are eliminated by cytotoxic lymphoid cells that produce perforin, granzyme B, and Fas ligand (FasL). Second, epithelial cells can produce FasL as an immunosuppressive protein, probably to protect the tissue against immune-mediated damage. Third, locally secreted antimicrobial peptides can be operative in the protection of animal and human epithelia. In this work, as another contribution to local mechanisms of host defense, the ability of human epidermal keratinocytes to produce cytotoxic proteins was investigated. To address this question, freshly isolated human epidermal cells and keratinocytes grown in vitro were studied. Freshly isolated epidermal cells did not express the cytolytic proteins. In contrast, keratinocyte growth to confluence was associated with granzyme B, perforin, and FasL mRNA and protein synthesis. These proteins were secreted in the culture medium. Further analysis showed that they were identical with the ones used by cytotoxic lymphocytes. Their function was then investigated with a view to a potential role in epidermal cell integrity. The data showed that activated human keratinocytes were able to protect against invading pathogens through granzyme B expression. This was demonstrated by the ability of granzyme B to greatly decrease the bacterial growth of Staphylococcus epidermidis. In addition, keratinocytes expressing FasL were found to prevent immune epidermal cell damage. Apoptosis of Fas-sensitive T cells occurred during coculture with confluent epidermal keratinocytes and was largely reduced by the addition of a FasL inhibitor. The data favor keratinocyte involvement in the regulation of dermal inflammatory responses.

Between 1980 and 1994, 67 new or relapsing leprosy patients were treated by daily administered multidrug regimens. Tuberculoid patients (23 TT/BT) received either bitherapy [rifampin + dapsone or clofazimine (RMP + DDS or CLO)] or tritherapy [RMP + DDS and/or CLO and/or ethionamide (ETH)] until clinical cure. Lepromatous patients (44 BB/BL/LL) received tritherapy (RMP + DDS and/or CLO and/or ETH) at least until bacteriological negativity. Of the 23 tuberculoid patients only one patient (5%) was cured at 6 months and about 70% needed between 6 and 24 months of treatment to obtain clinical cure (mean 19.5 months). In the 44 lepromatous patients, the achievement of bacteriological negativity was significantly linked to the initial bacterial index (BI), and it occurred after 2 to 7 years (mean 66.5 months) of multidrug therapy (MDT). The average BI decrease per year was 1.1+ during the first year, 0.9+ the second year, and then0.5+ per year. Reactional states significantly (p0.01) influenced the BI course: reversal reactions (RR) accelerated while erythema nodosum leprosum (ENL) delayed the BI decrease. Three of the 23 (13%) tuberculoid and 19 of the 44 (43%) lepromatous patients (p0.02) exhibited a RR and 18 of 44 (41%) lepromatous patients had ENL during MDT. A late RR (LRR) was observed in 1 (5%) and 6 (17%) of our tuberculoid and lepromatous patients, respectively, and 3 (8%) of our lepromatous patients suffered post-MDT ENL. No confirmed relapse has been observed within a follow-up period of 6 months to 7 years and 3 months [59 person-years at risk (PYR)] for TT/BT patients and of 4 months to 5 years and 10 months (100 PYR) for BB/BL/LL patients. When compared to the recommended WHO/MDT, it appears that daily MDT does not increase the clinical or the bacteriological cure rates either at 6 months in paucibacillary tuberculoid patients or at 2d years in multibacillary lepromatous patients. Moreover, as does the WHO/MDT, our regimens show a high frequency of reactional states both during and after treatment. This fact constitutes the main new problem of the actual treatment of leprosy.

Porphyria cutanea tarda has been reported in about 60 patients with human immunodeficiency virus (HIV) since 1987. We looked for porphyrin metabolism disorders in HIV infected patients without patent porphyria cutanea tarda.Urinary porphyrin excretion was measured in 64 patients with an HIV infection.Excreted levels were abnormal in 23 patients (36%) including 4 (6%) with patterns highly suggestive of porphyria cutanea tarda. One of these patients developed the disease 2 years later. In 15 patients (23%) there was a significant increase in coproporphyrinuria. Minimal alterations in uroporphyrin or its precursors were seen in the other patients. Abnormal excretion was significantly more frequent in patients with hepatopathy and in patients who had progressed to AIDS.Our findings suggest that HIV infection does not play a direct role in altered porphyrin metabolism because of the frequency of liver disorders observed in these patients.