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Localized cutaneous leishmaniasis acquired in France is rarely reported. Diagnosis usually relies on detection of leishmania on smears or by culture.A 9-year-old child living outside endemic French Mediterranean areas had long-lasting crusted papules on the face for several months. Although the lesions were suggestive of cutaneous leishmaniasis, smears and culture were negative for Leishmania. Skin biopsy showed epithelioid and giant cell granuloma, but Leishman bodies were absent. Western Blot analysis of the patient's serum revealed antibodies directed against Leishmania infantum antigens, thus confirming the diagnosis of cutaneous leishmaniasis. Intralesional injections of meglumine antimoniate yielded complete regression of lesions.Localized cutaneous leishmaniasis in France is caused by Leishmania infantum and may be diagnosed outside endemic Mediterranean areas, following transmission from a sandfly bite during summer holidays in Southern France. Serum analysis by Western Blot assay distinguishes between clinically active and asymptomatic Leishmania infections, the latter being common in endemic areas. Western Blot analysis is useful for the diagnosis of cutaneous leishmaniasis when parasites cannot be detected by direct techniques.

ejd.2011.1442 Auteur(s) : Blandine Bel1 blandine.bel@chu-dijon.fr, Marie-Helene Lorton2, Ariane Darut-Jouve3, Pierre Vabres1 1 Departments of Dermatology 2 Pathology, Hopital du Bocage, 2 bd Marechal de Lattre de Tassigny, 21079 Dijon, France 3 Oncology Department, Centre d’oncologie et de radiotherapie du Parc, Dijon, France Antimitotic drugs bleomycin or 5-fluorouracil (5FU) have been used intralesionally or topically for plantar warts refractory to conventional treatment but their toxicity [...]

ejd.2010.1219 Auteur(s) : Raphaelle BINOIS1 rapha.binois@hotmail.fr, Chrystele GALLIOT1, Sylvain AUDIA1, Marie-Helene AUBRIOT-LORTON2, Evelyne COLLET1, Sophie DALAC-RAT1, Pierre VABRES1 1 Departments of Dermatology, Centre Hospitalier Universitaire, Hopital du Bocage, BP 77908, 21079 Dijon Cedex, France 2 Pathology, Centre Hospitalier Universitaire, Hopital du Bocage, BP 77908, 21079 Dijon Cedex, France Anaemic macules reported as Bier's white spots have been described in association with mixed [...]

Importance The diagnosis of neurofibromatosis type 1 (NF1) is based on 7 clinical criteria. However, they are of limited value before the age of 2 years. Juvenile xanthogranuloma (JXG) and nevus anemicus (NA) are commonly observed in children with NF1 and may be useful diagnostic clues. Objectives To evaluate the frequency of JXG and NA, to describe their clinical features, and to determine their diagnostic value in patients with NF1. Design, Setting, and Participants Retrospective medical record review of outpatients seen between January 1, 2005, and December 31, 2011. University hospital dermatology department affiliated with the French NF1 referral center network. Patients with NF1 diagnosed by at least 2 National Institutes of Health criteria and examined at our department. Main Outcomes and Measures Percentage of patients with NF1 who had JXG or NA categorized into 4 age groups. Results Among 72 patients with NF1 (median age, 15.4 years), 23 had JXG (10%) or NA (25%). Both lesions were more frequent (55%) in those younger than 2 years (JXG, 30%; NA, 35%). Most JXG lesions were multiple and resolved spontaneously. Cephalic and genital involvement was frequent. No patient with JXG developed chronic myelomonocytic leukemia. Nevus anemicus was present on the neck and upper chest in 72% of cases. Among 10 patients (14%) who had only 1 diagnostic criterion at first visit, including 9 younger than 2 years, JXG or NA was present in 8 (80%). Conclusions and Relevance We found a high frequency of JXG and NA in patients with NF1, especially in children younger than 2 years with fewer than 2 diagnostic criteria. Hence, JXG and NA appear helpful in improving early diagnosis of NF1 in young children and infants.

Importance Although predisposing factors for bullous pemphigoid (BP) have been recently established, no clinical or immunologic factors have yet been identified to predict disease outcome. Objective To identify risk factors for BP relapse during the first year of treatment. Design, Setting, and Participants Multicenter prospective study of 120 consecutive patients with newly diagnosed BP in 8 French dermatology departments. Baseline and 6 follow-up visits were planned to record disease activity and collect blood samples for measurement of serum anti-BP180 and anti-BP230 levels by means of enzyme-linked immunosorbent assay (ELISA). Main Outcomes and Measures The end point was clinical relapse within the first year of therapy. Associations of clinical and immunologic (including serum levels of anti-BP180 and anti-BP230 autoantibodies) parameters with clinical relapse were assessed using univariate and multivariate analyses. Results During the 1-year follow-up, 35 patients (29.2%) experienced relapse, whereas anti-BP180 and anti-BP230 ELISA results were similar at baseline between patients who did and did not experience relapse. Factors at baseline independently associated with relapse were extensive disease at inclusion (hazard ratio [HR], 2.37 [95% CI, 1.2-4.8]) and an associated dementia (HR, 2.09 [95% CI, 1.0-4.2]). Use of superpotent topical corticosteroids alone (by 100 patients [83.3%]) induced a dramatic, early decrease in serum levels of anti-BP180 and anti-BP230 autoantibodies. Mean early decreases in autoantibody levels between baseline and day 60 were lower in patients with relapse compared with patients with ongoing remission (-10.0% and -45.2%, respectively, for anti-BP180 levels [P?.001] and -11.8% and -35.4%, respectively, for anti-BP230 levels [P?=?.046]). A higher serum level of anti-BP180 at day 150, with a cutoff of 23 U/mL, provided 84.2% sensitivity, 44.8% specificity, 33.3% positive predictive value, and 89.7% negative predictive value for the occurrence of relapses between days 150 and 360. Conclusions and Relevance The pronounced decrease in the level of anti-BP180 autoantibodies and, to a lesser extent, those directed against BP230 confirmed the use of superpotent topical corticosteroids alone as a reference BP treatment. Furthermore, our study suggests that neurological diseases play a major role in BP, not only as a predisposing but also as a prognostic factor. .

Mammary Paget's disease unfrequently occurs in males, and may be pigmented in rare instances. Differential diagnosis with malignant melanoma relies on immunohistochemical studies.A case of Paget's disease of the nipple in a 76 year-old male is reported, clinically mimicking a malignant melanoma because of massive pigmentation. Histologically, large Paget's clear cells were intermingled with numerous melanin-rich dendritic melanocytes. An underlying ductal carcinoma was found. After differential immunohistochemical staining, diagnosis of Paget's disease could be unequivocally substantiated since Paget's cells stained for epithelial markers, c-erbB-2 and hormonal receptors, whereas protein S100 and HMB45 were negative.Pigmentation in mammary Paget's disease occurs preferentially in males. Pigmentation results from numerous melanocytes with abundant melanin in close contact with Paget's cells. An increased number of melanocytes may also be observed in cutaneous metastatic breast carcinomas. It could result from a chemotactic factor produced by neoplastic cells.

Marie-Unna hypotrichosis (MU) is a rare autosomal dominant congenital alopecia characterised by progressive hair loss starting in early childhood, often aggravated at puberty and leading to scarring alopecia of variable severity. We have studied three multigeneration families of Belgian, British and French descent. The human genome was screened with microsatellite markers spaced at 10-cM intervals and significant evidence for linkage to the disease was observed on chromosome 8p21, with a maximum two-point lod score of 8.26 for D8S1786 at a recombination fraction of 0. Recombinants narrowed the region of interest to a genetic interval of about 12 cM flanked by markers D8S280 and D8S1839. This interval contains the hairless gene which is mutated in autosomal recessive congenital atrichia. Sequencing of the entire coding region and intronic splice sites of the hairless gene in these three families and in two unrelated familial cases revealed several polymorphic changes but failed to identify causative mutations. Nine other genes located within this region and expressed in skin were also excluded by mutation analysis. Together with a recent linkage study performed in a Dutch and a British family by van Steensel et al these results provide evidence for the presence of a gene distinct from hairless in chromosomal region 8p21 playing an important role in hair follicle biology.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, characterized by a genetic defect in DNA repair. The consequence is a high incidence of skin cancers on sun-exposed cutaneous surfaces of affected children. First lesions appear in the first years of life: telangiectasia, actinic keratosis and keratoacanthomas. Squamous cell and basal cell carcinomas are the most frequent neoplasms. We report the case of a 6-year-old girl affected with XP, who developed two unusual tumors: an atypical fibroxanthoma and a basosquamous carcinoma. In both tumors, immunohistochemical study showed abnormal accumulation of the p53 protein, suggesting the presence of mutation of the p53 tumor suppressor gene. Such p53 mutations may be ultraviolet (UV)-induced, as they are frequently observed in tumors occurring in XP.

The elastin gene is consistently deleted in Williams syndrome and as this protein represents the major component of the elastic fibers of the dermis, we sought to investigate skin elastic fibers in Williams syndrome as a key to unraveling extracellular matrix disorganization in this condition. Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis. Skin biopsies in Williams syndrome patients provide a simple mean to elucidate extracellular matrix anomalies. Hopefully, this method could give clues to the understanding of the elastic network anomalies in this condition and even to the consequences of these latter on elasticity and resilience of other tissues such as the arterial tree.

Type I carbohydrate deficient glycoprotein (CDG) syndrome is an inborn hereditary error of metabolism with a broad clinical spectrum. It is characterized by partial N-glycan deficiency of glycoproteins. Skin features may be part of this syndrome in infancy.A male infant failed to thrive, presenting psychomotor retardation, liver disease and multiple biological abnormalities. Very suggestive prominent skin manifestations were noted including abnormal subcutaneous fat with lipoma-like pads on the lower back and buttocks, thickened orange-peel skin on the limbs, thinned proximal knuckles, inverted nipples. Deficient serum transferrin sialylation and phosphomannomutase deficiency were identified confirming type I CDG syndrome.Although inconstantly present, skin manifestations of type I CDG syndrome are very suggestive and may be the inaugural signs of the disease.

Late cutaneous signs of incontinentia pigmenti (IP) are often subtle and misdiagnosed. We focus on these somewhat confusing clinical markers in a family, and on the genotypic diagnosis based on DNA analysis. An infant was born with a typical IP rash. Dermatologic examination of the women In her family revealed that her mother, her maternal aunt, and her grandmother had subtle skin signs reminiscent of IP. The four family members proved to be Informative for DNA markers in the Xq28 region. Familial cases of IP are sometimes missed due to the lack of recognition of some late skin signs that are not always hyperpigmented streaks. Subtle, faint, hypochromic or atrophic lesions in a linear pattern may occur. Thus an accurate diagnosis of the women in a particular family also requires anamnestic data and recognition of extracutaneous anomalies. When a clinical diagnosis has been made, DNA marker analysis allows us to offer a prenatal diagnosis with minimal risk of error In case of further pregnancy. However, early testing of chorionic villus samples does not allow one to predict the severity of the disease in an affected fetus.

Chromosome X is one of the best genetically defined. Many disease loci are assigned to this chromosome, due to the peculiar mode of inheritance of X-linked disorders. Chromosome X undergoes X-inactivation in females. Recombination with chromosome Y occurs at pseudoautosomal regions. Some features of X-linked genodermatoses are a consequence of these phenomenons: variable expression, topography following Blaschko's lines. This can be seen in incontinentia pigmenti, focal dermal hypoplasia or hypohidrotic ectodermal dysplasia. Deletions at the pseudoautosomal region may cause contiguous gene syndromes. Hence ichthyosis with steroid-sulfatase deficiency may occur in association with various disorders. Transmitting females should be recognized by clinical examination or molecular studies, as this represents the main point in genetic counselling.