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Biomedical subjects

C Bodemer

Publications and source records attributed to C Bodemer.

At least 19 recordsLinked to original sources
PubMed1999

Skin elastic fibers in Williams syndrome.

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.

Adolescent↗
PubMed1999

Prognostic factors in primary cutaneous lymphomas other than mycosis fungoides and the Sézary syndrome. The French Study Group on Cutaneous Lymphomas.

Prognostic studies of primary cutaneous lymphomas (PCL) other than mycosis fungoides (MF) and the Sézary syndrome (SS; non-MF/SS PCL) have been mainly performed on subgroups or on small numbers of patients by using univariate analyses. Our aim was to identify independent prognostic factors in a large series of patients with non-MF/SS PCL. We evaluated 158 patients who were registered in the French Study Group on Cutaneous Lymphomas database from January 1, 1986 to March 1, 1997. Variables analyzed for prognostic value were: age; sex; type of clinical lesions; maximum diameter, location, and number of skin lesions; cutaneous distribution (ie, local, regional, or generalized); prognostic group according to the European Organization for Research and Treatment of Cancer (EORTC) classification for PCL; B- or T-cell phenotype; serum lactate dehydrogenase (LDH) level; and B symptoms. Univariate and multivariate analyses were performed using a model of relative survival. Forty-nine patients (31%) died. The median relative survival time was 81 months. In univariate analysis, EORTC prognostic group, serum LDH level, B symptoms, and variables related to tumor extension (ie, distribution, maximum diameter, and number of skin lesions) were significantly associated with survival. When these variables were considered together in a multivariate analysis, EORTC prognostic group and distribution of skin lesions remained statistically significant, independent prognostic factors. This study confirms the good predictive value of the EORTC classification for PCL and shows that the distribution of skin lesions at initial evaluation is an important prognostic indicator.

Adolescent↗
PubMed1999

Hair and skin disorders as signs of mitochondrial disease.

OBJECTIVE: To compare and explore the skin manifestations of mitochondrial disorders in 14 children with puzzling and unexpected cutaneous presentations. STUDY DESIGN: One hundred forty children with mitochondrial disorders who had been under observation in our hospital for the last 10 years, were carefully examined by the same physicians. Skin and hair characteristics were investigated by the same dermatologist. All the children developed an early unexplained association of symptoms. Metabolic screening for abnormal oxidative-reduction in plasma and mitochondrial enzyme investigations confirmed the diagnosis of oxidative phosphorylation disorders. RESULTS: Fourteen children with mitochondrial disorders (10% of the original cohort) developed specific hair and skin abnormalities. Their cutaneous manifestations were similar, and could be classified into four categories: hair abnormalities, rashes and pigmentation disorders, hypertrichosis, and acrocyanosis. In 3 cases, skin disorders constituted the puzzling and unexpected manifestations of mitochondrial disease. Respiratory chain deficiencies in the cultured skin fibroblasts of 3 patients and heteroplasmic mitochondrial DNA rearrangement in the skin fibroblasts of 1 patient indicated that mitochondrial disorders may be expressed in the skin. CONCLUSION: Hair abnormalities and pigmented skin eruptions might belong to the broad spectrum of presenting symptoms of mitochondrial disease. The association of these dermatologic lesions with unrelated disorders should lead physicians to consider a diagnosis of mitochondriopathy as early as possible.

Age of Onset↗
PubMed1998

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

We describe two familial cases of dominant dystrophic epidermolysis bullosa (DDEB) that are heterozygous for deletions in COL7A1 that alter splicing, despite intact consensus splice-site sequences. One patient shows a 28-bp genomic deletion (6081del28) in exon 73 associated with the activation of a cryptic donor splice site within this exon; the combination of both defects restores the phase and replaces the last 11 Gly-X-Y repeats of exon 73 by a noncollagenous sequence, Glu-Ser-Leu. The second patient demonstrates a 27-bp deletion in exon 87 (6847del27), causing in-frame skipping of this exon; consensus splice sites, putative branch sites, and introns flanking exons 73 and 87 showed a normal sequence. Keratinocytes from the probands synthesized normal and shortened type VII collagen polypeptides and showed intracellular accumulation of type VII procollagen molecules. This first report of genomic deletions in COL7A1 in DDEB suggests a role for exonic sequences in the control of splicing of COL7A1 pre-mRNA and provides evidence that shortened type VII collagen polypeptides can alter, in a dominant manner, anchoring-fibril formation and can cause DDEB of differing severity.

Adult↗
PubMed1998

Statistical evaluation of diagnostic and prognostic features of CD30+ cutaneous lymphoproliferative disorders: a clinicopathologic study of 65 cases.

Several clinical and histopathologic features of 65 CD30+ cutaneous lymphoproliferations were evaluated for their diagnostic value between CD30+ primary versus secondary cutaneous lymphomas and for their prognostic significance. Primary cutaneous disease, spontaneous regression, and absence of extracutaneous spreading (but not age < or =60 years) were associated with a better prognosis. Epithelial membrane antigen, BNH9, CD15 or CBF.78 antigen were expressed in all types of cutaneous lymphoproliferations. However, epithelial membrane antigen immunoreactivity was more frequently expressed in CD30+ secondary cutaneous large-cell lymphoma. Among CD30+ primary cutaneous large-cell lymphoma, CD15 expression was only seen in localized skin lesions. P53 expression was not associated with spontaneous regression, extracutaneous spreading, or survival. Nested reverse transcriptase-polymerase chain reaction allowed the detection of NPM-ALK transcripts in 10 of 26 CD30+ primary and in 3 of 11 secondary cutaneous large-cell lymphomas. The ALK protein was detected in only 1 of 50 primary and in 4 of 15 secondary cutaneous CD30+ lymphoproliferations. In CD30+ primary cutaneous lymphoproliferation, NPM-ALK transcripts might be expressed by very rare normal or tumoral cells that are undetectable by immunohistochemistry. However, the expression of either NPM-ALK transcripts or ALK-protein was not correlated with prognosis or age in CD30+ cutaneous lymphoproliferations.

Biomarkers, Tumor↗
PubMed1997

[Febrile eruptions and herpesviruses].

There are 2 types of febrile skin eruptions due to herpesviruses: rashes (human herpesvirus 6 and 7. Epstein-Barr virus and cytomegalovirus), and vesicular eruptions (varicella and herpes zoster, primary and recurrent herpetic infections). Clinical diagnosis is often easy, based on the features of the eruption: characteristic sudden exanthem, clinical signs of infectious mononucleosis, or early vesicular trunk lesions characteristic of varicella or herpes. However, it must be stressed that exanthematic viroses can be highly variable. In some cases, and based on the background on which these eruptions occur, laboratory investigations will be necessary, according to the suspected virus.

Adolescent↗
PubMed1997

[Febrile eruptions in systemic diseases in children].

During systemic diseases, various cutaneous lesions can arise. When the diagnosis of the disease is known, it is quite easy to attribute the cutaneous symptoms to this disease. But, when confronted to a child with a rash and fever infectious disease has to be excluded first. If the antiinfectious treatment is not effective, a systemic disease can be suspected. Acute systemic disease may present as malaise, fever and cutaneous lesions, without specific biological abnormalities. The cutaneous symptoms can then be precious in reaching the correct diagnosis.

Arthritis, Juvenile↗
PubMed1997

Staphylococcal necrotizing fasciitis in the mammary region in childhood: a report of five cases.

OBJECTIVE: Necrotizing fasciitis is a highly lethal soft tissue infection rarely reported in childhood. The initiating site is usually a local trauma or a surgical wound. We observed five cases of necrotizing fasciitis the initiating site for which was the mammary region and discuss their management. STUDY DESIGN: We describe these five patients and review the clinical characteristics of their presentation. RESULTS: Staphylococcal necrotizing fasciitis was observed in the mammary region in all five cases. Four children were newborn infants with a mammitis preceding the onset of necrotizing fasciitis. Surgical débridement was done only after the fourth day from onset of illness. All children were discharged in good condition after 1 month. Two have been followed until puberty, with destruction of the mammary gland in one case and good development in the other one. CONCLUSION: Mammitis may be the initiating event for necrotizing fasciitis in neonates. Necrotizing fasciitis is a life-threatening disease; patients require early intensive care, parenteral antibiotic therapy, and surgical débridement. In a few instances surgery can be carefully delayed until the necrotic area is more delineated if the condition is diagnosed early during disease evolution and appropriate treatment is instituted in intensive care units.

Anti-Bacterial Agents↗
PubMed1997

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↗
PubMed1997

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↗
PubMed1997

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↗
PubMed1997

[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↗
PubMed1997

[Complex facial nevus in children treated by combination of prosthetic and deferred natural expansions].

Congenital pigmented naevi of the face in children represent indications for early excision and the search for the best aesthetic result has led the authors to prefer the use of skin expansion techniques. The case presented here illustrates the combined use of two expansion techniques: prosthetic expansion and natural differed expansion. This procedure gives good cosmetic results at a moderate overall cost.

Face↗
PubMed1996

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↗