[Diagnosis of a vesiculobullous eruption in the newborn].
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Biopsy↗
Biomedical subjects
S Fraitag
Publications and source records attributed to S Fraitag.
[Scleroderma in children: a retrospective study of 70 cases].
BACKGROUND: Scleroderma is uncommon in childhood. The aim of our study was to analyze the frequency of different clinical forms, their prognostic significance, biological features, and co-morbidities and to assess the pertinence of therapeutic options. PATIENTS AND METHODS: The files of 70 children with primary scleroderma seen from 1980 to 1997 were retrospectively reviewed. RESULTS: Localized scleroderma was observed in 56 children and diffuse lesions in 14. Localized scleroderma (44 girls, 12 boys) began early at a mean age of 7 years 2 months. The lesions presented as isolated bands (39 p. 100), associated with morphea (36 p. 100), or multiple morphea (5 p. 100). Mean duration of the clinical course was longer in cases with more and deeper lesions. Eosinophilia was observed at onset in 38 p. 100 of the cases and antinuclear antibodies were found in 28 p. 100. Local corticosteroid therapy (level I or II) appeared to be useful in the superficial and active lesions (morphea) but did not halt progression to deep scleroderma. General corticosteroid therapy (1 mg/kg/24 h) did not prevent the development of sequelae in cases with bands (16/16). Diffuse scleroderma corresponded to systemic scleroderma (6 cases), dual morbidity (dermatomyositis, mixed connective tissue disease) (6 cases), or scleroderma after eosinophil fasciitis (2 cases). Age at onset was around 9 years with female predominance. A particular gloves and socks form was observed and cardiac involvement was common, but there was no case of renal involvement. The therapeutic problems were similar to those in adults. DISCUSSION: Our findings emphasize that scleroderma occurs readily in childhood, unlike what has been reported 10 years ago. Prognosis depends on functional impairment resulting from major sequelae particularly important in localized forms and the life-threatening situations occurring in systemic forms.
Adrenal Cortex Hormones↗
[Cutaneous nodules in neonates].
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Adult↗
Treatment of recalcitrant plaque psoriasis with a humanized non-depleting antibody to CD4.
The presence of activated CD4(+) T lymphocytes in psoriatic skin plaques suggests an immune-mediated pathogenesis for the disease. Six patients with recalcitrant plaque psoriasis (PASI>12) received a humanized non-depleting monoclonal antibody to CD4 (ORTHOCLONE OKT(R)cdr4a). The antibody was well tolerated. Four weeks from treatment, the mean decrease in PASI score was 46%. In three patients disease remission was prolonged for up to 6 months and, in one case, up to 1 year post-treatment. In all patients, circulating CD4+ T-cell counts remained normal and peripheral OKTcdr4a-coated CD4+ lymphocytes were detected up to 10 days after antibody infusion. These results point to the relevance of CD4+ lymphocytes in psoriasis. They also emphasize that depletion of CD4+ cells is not mandatory to achieve therapeutic effectiveness.
Adult↗
Cutaneous T cell lymphomas: mycosis fungoides, Sezary syndrome and HTLV-I-associated adult T cell leukemia (ATL) in Mali, West Africa: a clinical, pathological and immunovirological study of 14 cases and a review of the African ATL cases.
Cutaneous T cell lymphomas (CTCL) are rare lymphoproliferative diseases, which are frequently suspected to be of viral origin. As very few data were available concerning cutaneous T cell lymphomas in tropical Africa, we undertook a clinical, histopathological, immunological and viro-molecular study of patients with a clinical diagnosis of cutaneous lymphoma, in Bamako, Mali. While prior to this study, no case of CTCL had been reported in this country, 14 patients (five women, nine men; mean age 58 years) with a diagnosis of cutaneous lymphoma were seen over a period of 30 months (1992-1994) in the only dermatological department in Mali. Clinically, the most frequent pattern was an infiltrated erythrodermia similar to Sezary syndrome. Nodular lesions and/or plaques were rarely observed. All these cutaneous tumors were T cell lymphoproliferations, only one expressing the CD8+ antigen. A comprehensive analysis of all the available data permitted characterization of three cases of adult T cell leukemia/lymphoma (ATL) associated with HTLV-I (one definitive case, of leukemic type, with demonstration of clonal integration of HTLV-I proviral genome and two probable ATL cases), three cases of Sezary syndrome (SS), two cases of mycosis fungoides (MF) and five cases of pleomorphic cutaneous lymphoma. In one case, the differentiation between MF and pleomorphic cutaneous lymphoma could not be established. HTLV-I serological and/or molecular markers were restricted to the three ATL cases. From the unique definitive ATL case, a T cell line was established from culture of peripheral blood mononuclear cells and sequence analysis of the env gene and the U3-LTR region demonstrated that the virus present in this patient belonged to the cosmopolitan subtype A. Thus, we report here the first evidence of HTLV-I infection and associated ATL in Mali. This is the second ATL case described for the whole Sahelian region (one ATL of the lymphoma type was reported previously in a Mauritanian patient). Furthermore, we demonstrate that the main types of CTCL described in Europe and North America are also present in this African area and that the prevalence of these diseases is greatly underestimated in such regions. Furthermore, no association was observed between HTLV-I/II infection and SS, MF or pleomorphic cutaneous lymphoma in Mali in contrast to other studies.
Adult↗
DNA content and cell proliferation in giant congenital melanocytic naevi (GCMN). An analysis by image cytometry.
GCMN may be precursors of melanoma, and it has been suggested that the presence of atypical foci could increase the risk of malignant transformation. In order to better define atypical GCMN, we analyzed DNA content and proliferative activity in 21 samples of GCMN, with (n=13) or without (n=8) cytologic atypia. Six benign acquired naevi (AN) and 6 malignant melanoma (MM) were used as controls. DNA content was determined with the CAS 200 image analyzer, and DNA histograms were classified according to the Auer classification. The proliferative indices (PI) were measured after Ki 67 immunostaining using the CAS 200 system. All AN and GCMN without atypia showed class I histograms (normal DNA content) and low PI (mean 1.9 and 2.1). Atypical GCMN showed in 10 cases an abnormal DNA content (class III or IV histograms) with low PI (mean 2.7), and in 3 cases a normal DNA content (class I histograms) with higher PI (mean 16.2). All MM displayed abnormal DNA content and high PI (mean 32.6). In conclusion, abnormal DNA content seems to correlate with cytologic atypia in GCMN. Atypical GCMN exhibit an overall pattern of DNA content and cell proliferation intermediate between non-atypical naevi and MM.
Cell Division↗
[Stomatococcus mucilaginosus infection. A rare cause of cutaneous histiocytic infiltrate].
We report the case of a systemic infection due to Stomatococcus mucilaginosus with cutaneous localisations occurring in a neutropenic child. The histological features of this cutaneous involvement are very unusual and the diagnosis can be suggested before bacteriological results.
Adolescent↗
[Pretibial epidermolysis bullosa. A rare form of epidermolysis bullosa simplex].
INTRODUCTION: Pretibial epidermolysis bullosa had been classified as a rare localized form of autosomal dominant dystrophic epidermolysis bullosa. OBSERVATION: We report a sporadic case of a patient suffering from bullous lesions induced by minor trauma on pretibial skin. The lesions healed with atrophic scars. No milia formation was observed. The mapping of dermoepidermal junction by LH 7:2 and GB3 monoclonal antibodies was normal. By electron microscopy, numerous perinuclear vacuoles were observed and the cleavage occurred within the basal keratinocytes. DISCUSSION: This patient had clinical features in accordance with a diagnosis of pretibial epidermolysis bullosa. However, in contrast to previous case reports, the ultrastructural pattern was this of an epidermolysis bullosa of simplex type.
Adult↗
Lack of expression of E-cadherin is associated with dissemination of Langerhans' cell histiocytosis and poor outcome.
Langerhans' cell histiocytosis (LCH) often occurs in children as a cutaneous disease. The course of the disease is characterized by either spontaneous resolution or multivisceral dissemination with poor prognosis. The pathogenesis of LCH is not known. Since E-cadherin mediates homophilic adhesion of normal Langerhans' cells to keratinocytes and is also a ligand of the alpha E beta 7 intraepithelial lymphocyte integrin, this study was undertaken to investigate whether its expression on LCH cells correlates with the clinical behaviour of the disease. Clinical records of 14 children with LCH, all of whom had cutaneous involvement, were retrospectively analysed. The expression of E-cadherin was studied by in situ immunohistochemistry on 22 frozen biopsy samples with two specific monoclonal antibodies. LCH cells of the seven children with only skin involvement were positive for E-cadherin. By contrast, LCH cells of the seven children who further developed extensive LCH disclosed a negative or low expression of E-cadherin. This study shows that dissemination and poor prognosis are associated with lack of E-cadherin expression on LCH cells. Aggressive clinical evolution of LCH may therefore be related to the loss of functions mediated by E-cadherin.
Biomarkers↗
Detection of donor-derived Langerhans cells in MHC class II immunodeficient patients after allogeneic bone marrow transplantation.
T-cell dependent immune response is initiated by dendritic cells, which are the only leucocytes able to prime naive CD4-positive T cells. Langerhans cells (LC) are dendritic cells characterized by their localization within the epidermis, their dendritic shape, and their expression of specific markers such as major histocompatibility complex (MHC) class II molecules, CD1a and S100 protein. We retrospectively studied the phenotype of LC in the skin of eight children with MHC class II deficiency (bare lymphocyte syndrome) after allogeneic bone marrow transplantation (BMT). The presence of donor-derived MHC class II positive LC within the epidermis was studied by immunohistochemistry on skin biopsies performed for the determination of graft-versus-host disease. MHC class II positive LC were undetectable in the epidermis of a child who did not engraft and of three children 13-18 d after HLA-mismatched BMT, despite engraftment. However, donor-derived MHC class II positive LC were detected in four children 9-43 d after HLA-identical BMT. Our results demonstrate that LC can differentiate or expand very quickly, as early as within 9 d after BMT.
Biopsy↗
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
We have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring fibrils, 18 of which were not previously reported, in patients from 15 unrelated families with recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 mutations in both alleles were identified by screening the 118 exons of COL7A1 and flanking intron regions. Fourteen mutations created premature termination codons (PTCs) and consisted of nonsense mutations, small insertions, deletions, and splice-site mutations. A further seven mutations predicted glycine or arginine substitutions in the collagenous domain of the molecule. Two mutations were found in more than one family reported in this study, and six of the seven missense mutations showed clustering within exons 72-74 next to the hinge region of the protein. Patients who were homozygous or compound heterozygotes for mutations leading to PTCs displayed both absence or drastic reduction of COL7A1 transcripts and undetectable type VII collagen protein in skin. In contrast, missense mutations were associated with clearly detectable COL7A1 transcripts and with normal or reduced expression of type VII collagen protein at the dermo/epidermal junction. Our results provide evidence for at least two distinct molecular mechanisms underlying defective anchoring fibril formation in RDEB: one involving PTCs leading to mRNA instability and absence of protein synthesis, the other implicating missense mutations resulting in the synthesis of type VII collagen polypeptide with decreased stability and/or altered function. Genotype-phenotype correlations suggested that the nature and location of these mutations are important determinants of the disease phenotype and showed evidence for interfamilial phenotypic variability.
Alleles↗
Epidermolysis bullosa acquisita in childhood.
BACKGROUND: Epidermolysis bullosa acquisita (EBA) is an autoimmune bullous disease characterized by the presence of antitype VII collagen antibodies, leading to the formation of bullae in the dermoepidermal junction. This disease is rare in childhood. OBSERVATIONS: We report 3 new cases of EBA in children. The 3 patients were similar; all 3 children were black, with a clinical phenotype resembling linear IgA bullous disease in children and typical histologic and immunologic features of EBA. In the 3 patients, diagnosis was proven using immune electron microscopy and Western blot analysis, where antitype VII collagen antibodies were demonstrated. Patients 1 and 2 were successfully treated with a combination of prednisone and dapsone. In patient 3, the lesions healed without specific therapy. We found 11 other pediatric cases of EBA in the literature and studied those cases in addition to the cases presented herein to describe the characteristics of EBA in childhood. CONCLUSIONS: Epidermolysis bullosa acquisita is a rare disease in childhood. Mucosal involvement is frequent and severe. Because the clinical features are misleading, the use of immune electron microscopy and Western blot analysis is essential to making a diagnosis. Treatment with a combination of prednisone and dapsone is often effective. The prognosis in children is better than it is in adult patients.
Adolescent↗
[Congenital giant blue nevus. Apropos of a case].
A case of a three years old girl showing a congenital giant blue nevus, in the neck and the occipital region, is presented. The giant blue nevus was associated to an important cutaneous nevomatosis. The treatment has consisted of an surgical excision of an surgical excision of the main lesion, and operative continuations have been simple. The literature study showed 11 cases of congenital giant blue nevus and demonstrate the high risk of malignancy, and the importance of an early surgical treatment.
Child, Preschool↗
Human T-cell lymphotropic virus-1-positive T-cell leukemia/lymphoma in a child. Report of a case and review of the literature.
Adult T-cell leukemia/lymphoma is a monoclonal T-cell neoplasm associated with human T-cell lymphotropic virus-1 (HTLV-1) that occurs almost exclusively in adults. This report concerns a Romanian girl who had recurrent skin eruptions since infancy, subcutaneous tumors in childhood, and peripheral blood lymphocytosis, which initially developed at the age of 12 years. The circulating lymphocytes were of helper T-cell immunophenotype. Serologic studies demonstrated a number of HTLV-1 antigens in the child and her mother, and molecular analyses revealed monoclonal T-cell-receptor gamma gene rearrangement and detectable HTLV-1 proviral DNA. Conventional cytogenetic studies revealed a t(3;6)(q23;q27) chromosome translocation in most of the neoplastic cells. The patient initially responded well to interferon alfa therapy and showed regression of skin lesions and diminished lymphocytosis, but 4 years later, she developed massive lymphadenopathy and leukemic infiltration of the breast. At last clinical follow-up, at the age of 17 years, the patient had stable low-level peripheral lymphocytosis and subcutaneous tumors while being continuously treated with interferon alfa. Our review of the literature revealed six additional children with HTLV-1-associated T-cell leukemia/lymphoma, including one case with a similar clinical presentation and ethnic background. To our knowledge, the t(3;6)(q23;q27) translocation identified in this patient's neoplasm has not been previously reported in adult T-cell leukemia/lymphoma cases and may explain the early onset of disease. Although adult T-cell leukemia/lymphoma is rare in Romania, the identification of healthy carriers and vertical transmission raise the possibility that Romania might be an endemic region for HTLV-1 infection.
Base Sequence↗
[Spindle-cell hemangioendothelioma with monomelic and multifocal form in a child].
BACKGROUND: Spindle-cell hemangioendothelioma is a soft tissue skin tumor recently identified histologically. It can occur at all ages but generally is seen in young adults. The lesion usually occurs as a subcutaneous mass involving the limbs. CASE REPORT: A particular case of spindle-cell hemangioendothelioma was observed in an 18-month-old child. The lesions progressed with a monomelic distribution on the upper limb. Histological diagnosis of spindle-cell hemangioendothelioma was achieved at the age of 6 years. DISCUSSION: The age of the patient and the monomelic distribution is particular in this case of spindle-cell hemangioendothelioma, inciting a nosological discussion on this disease and other vascular tumors of childhood and the relationship of these types of lesions with Maffucci's syndrome. Although no anomalies have been detected to date, radiological surveillance is needed as cases of Maffucci's syndrome associated with spindle-cell hemangioendothelioma is described in the literature.
Hand↗
A familial T-cell lymphoma with gamma delta phenotype and an original location. Possible role of chronic Epstein-Barr virus infection.
BACKGROUND: We describe a familial lymphoproliferative syndrome associated with Epstein-Barr Virus (EBV) infection and the gamma delta phenotype. METHODS: We reviewed clinical, pathologic, immunologic, and virologic findings in a nonconsanguineous French family, collected over a 13-year period. Specimens from the father (autopsy), son (liver, lymph nodes, and pericardial effusion), and daughter (skin, liver, and digestive tract) were studied with conventional histologic and immunohistochemical techniques. Anti-EBV latent membrane protein (LMP) antibody and T-cell receptor (TCR) gene rearrangements were also studied in the daughter. RESULTS: The father and daughter had similar clinical and histologic features with maxilofacial, nasal, laryngeal, skin, lung, gastrointestinal, and liver involvement by a high grade large cell angiocentric T-cell lymphoma. The gamma delta phenotype and clonal rearrangement were identified in the daughter's tumor. At the time of his death from pericarditis, the son had a 5-year history of a recurrent hemophagocytic syndrome and lymphadenopathy. Chronic EBV infection was found in each case. EBV infection of the son was diagnosed by means of serologic tests and detection of the EBV genome in circulating lymphocytes, and in the father and daughter by use of an anti-LMP antibody. Its pathologic role is discussed. CONCLUSION: This familial T-cell lymphoma syndrome associated with the gamma delta phenotype and an unusual location is an original clinical entity. Chronic EBV infection was present in each case, but its precise role remains to be determined.
Adult↗
[Dermatitis herpetiformis occuring in patients with celiac disease in childhood].
BACKGROUND: Dermatitis herpetiformis (DH) is a chronic papulovesicular immune-mediated disorder associated with gluten-sensitive enteropathy. We report eight cases in which DH appeared many years after celiac disease (CD) in child. PATIENTS AND METHODS: The diagnosis of CD was based on histological features of total or subtotal villous atrophy, full remission after withdrawal of gluten from the diet, and eventually circulating antibodies (IgA gliadin, antireticulin and antiendomysium) at the time of diagnosis and their disappearance under gluten-free diet. The diagnosis of DH was made from clinical findings, histological examination of the involved skin and direct immunofluorescence microscopy of normal or perilesional skin. HLA class II typing was performed in five patients. DRB1, DQA1, DQB1 and DBP1 alleles were studied. RESULTS: DH appeared between 3 and 22 years after the initial diagnosis of CD. Five patients did not show at that time any digestive symptoms. In three cases, a break in the gluten-free diet or a recent revival of the normal diet preceded the rash. In only one case, DH appeared while the patient was under gluten-free diet. In three patients, the rash appeared many years after the gluten-free diet had been stopped. Phenotype DR3 and/or DR7 of the celiac disease could be found in four of the five patients studied; three of them were found to bear DQW2. The DR2 allele was not found in any of the five tested patients. DISCUSSION: These eight cases illustrate the absence of precise nosological barrier between gluten-sensitive enteropathy of the DH and that observed in CD. The presence of the DR7 allele, and especially the absence of the DR2 allele, could explain the particularly severe and symptomatic course of the enteropathy in these patients. The delay in the appearance of DH, after a very variable period of normal diet, could correspond to the necessary time for progressive accumulation of IgA (or immune complex IgA-gluten) in the skin after a digestive sensitization to gluten. The preventive role of gluten-free diet is thus probable. CONCLUSION: CD and DH likely correspond to two different stages of the same disease, thus requiring a prolonged follow-up of both digestive and skin tissues. Long-term eviction of gluten to prevent eventual DH must be balanced with the demand and the cost of such a diet.
Celiac Disease↗