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Biomedical subjects

C Bodemer

Publications and source records attributed to C Bodemer.

At least 19 recordsLinked to original sources
PubMed2005

[How should severe and chronic atopic dermatitis in children be managed?].

Severe atopic dermatitis in children is rare. When prescribing exceptional treatments (because of failure with classical drugs such as topical corticosteroids or topical immunosuppressors), it is important to ensure that the child is not suffering from an atopic dermatitis that has not been handled correctly. This assessment may require short hospitalisation. When the severity and rebellious nature of the atopic dermatitis with regard to routine treatment has been confirmed, exceptional treatment is envisaged. Currently, the treatment that is mastered in children remains cyclosporine, although marketing authorisation has not been granted in this indication. The side effects and notably nephrotoxicity justify the careful prescription of this drug with regular controls, and the opinion of a paediatric nephrologist. Other immunosuppressive treatments such as azathioprine, mycophenolate mofetil or even interferon gamma have rarely been studied in children, nor particularly in adults, and usually only in open studies. Their safe use in children, in the indication of severe atopic dermatitis obviously warrants comparative studies in large cohorts. Phototherapy should not be banned, even in this paediatric population, but modalities should be further defined, taking into account the real practical possibilities of this type of treatment, depending on the patients' age, and with long-term monitoring. Antileucotrienes have not yet sufficiently demonstrated their efficacy. In such severe forms, ideally, there should be the possibility of defining the predictable factors of efficacy and tolerance in each patient (biologically or with in vitro tests) that would optimise the use of these exceptional treatments, or even new molecules, in well targeted indications. The golden rule remains: patience, explanation, education, observation, monitoring and availability.

Azathioprine↗
PubMed2004

[Disseminated lupus erythematosus in children: guidelines about investigations during the initial evaluation and follow-up].

Childhood-onset systemic lupus erythematosus (SLE) is often severe and has a serious long-term morbidity. Pediatric guidelines about its management do not exist. The French study group of childhood-onset SLE proposes recommendations about the investigation which are needed at diagnosis and during follow-up of SLE, in order to adjust the treatment according to the severity of the disease and to avoid unnecessary investigations.

Aftercare↗
PubMed2004

[Hereditary cholestasis, an unusual etiology of pruritus in the infant].

INTRODUCTION: Pruritus in the infant is predominantly related to common dermatosis. General causes remain exceptional. We report two cases of pruritus in infants revealing anicteric cholestasis. OBSERVATIONS: Case no 1. A thirteen month-old boy had exhibited pruritus since the age of 2 months. The clinical examination was non-specific. Biological explorations revealed an isolated and moderate rise in total bilary acids. The search for mutations in the genes of a familial fibrogenic cholestasis was negative. The diagnosis retained was hypercholanemia. Treatment combined ursodesoxycholic acid and rifampicine, which controlled the pruritus and normalized the bilary acid levels. Case no 2. A twenty-one month-old boy had exhibited pruritus since the age of 2 months and delayed growth. The clinical examination was unspecific. The biological explorations revealed cholestasis with normal delta GT, moderate cytolysis and liposoluble vitamin deficiency. The hepatic biopsy was normal. The diagnosis retained was familial fibrogenic cholestasis. Treatment combined ursodesoxycholic acid and rifampicine, which controlled the pruritus and normalized the hepatic parameters. DISCUSSION: Non-dermatological isolated pruritus is rare in infants. These two observations illustrate two abnormalities in bilary acid transport. Hypercholanemia is a faulty canalization of bilary acids by the hepatocyte. Familial fibrogenic cholestasis is a default in the elimination of these bilary acids. Such pathologies must be evoked because specific treatment will treat the symptoms and avoid the evolution of familial fibrogenic cholestasis towards cirrhosis.

Cholestasis↗
PubMed2003

[Childhood-onset systemic lupus erythematosus].

Systemic Lupus Erythematosus (SLE) remains a challenging autoimmune disease in term of etiology, pathogenesis and treatment. It is estimated that 10-17% of lupus patients present before the age of 16. SLE in children appears to have more severe organ involvement than in adults. The outcome of childhood SLE has improved during the last decade, but the morbidity remains high.

Adolescent↗
PubMed2003

High frequency of detection of human papillomaviruses associated with epidermodysplasia verruciformis in children with psoriasis.

BACKGROUND: Psoriasis is a T-cell-mediated immunological disease characterized by epidermal proliferation. The nature of the antigen(s) responsible for T-cell activation is still unknown. It has been suggested that the human papillomaviruses (HPVs) associated with epidermodysplasia verruciformis (EV), including the oncogenic HPV5, may contribute to the pathogenesis of psoriasis. OBJECTIVES: To determine whether EV-HPVs may play a role early in the disease, we searched for these viruses in children with psoriasis. The influence of clinical data on EV-HPV infection was investigated. METHODS: We studied scrapings of involved skin from 26 children aged 1.5-13 years with psoriasis. As controls, we analysed scrapings from 28 adults with psoriasis and 15 children with atopic dermatitis, as well as scrapings from normal skin of 28 adults with no known history of HPV infection. We searched for EV-HPV DNA sequences with a nested polymerase chain reaction method using degenerate primers specific for EV-HPVs and primers specific for HPV5 and HPV36, two EV-HPVs frequently detected in adults with psoriasis. RESULTS: Similar high prevalences were observed in children and adults with psoriasis for EV-HPVs (38.5% vs. 35.7%), HPV5 (46.2% vs. 46.4%) and HPV36 (15.4% vs. 25.0%). As in adults, we found several EV-HPV genotypes and HPV5 and HPV36 variants. A novel HPV36 subtype, HPV36b, was identified. Lower prevalences were observed in children with atopic dermatitis and in adults from the general population (6.7-10.1%). No correlation was observed between frequency of detection of HPVs and clinical data. It is noteworthy that HPV5 was identified in an 18-month-old girl and in a boy with psoriasis developing for only 1 week. CONCLUSIONS: The early detection of several EV-HPV genotypes in children further supports the link between psoriasis and EV-HPVs and suggests a putative role for these viruses in the pathogenesis of psoriasis.

Adolescent↗
PubMed2003

[Perianal abcess in infant].

INTRODUCTION: Perianal abcess and fistula-in-ano are particular when happening in infants of less than 1 year of age. A congenital abnormality of crypts of Morgagni may be at the origin of the disease. There is no evidence for predisposing condition at this age. CASE REPORT: A 7-week-old boy had a painful swollen perianal lesion suggesting the presence of perianal abcess. Biological tests did not show any neutropenia nor inflammatory syndrome. The infant was admitted to the surgical center to undergo a perianal abcess drainage. During the intervention, no fistula was found. No recurrence was observed. DISCUSSION: Perianal abcess and/or fistula-in-ano are relatively common conditions in infants of less than 1 year of age. This disease is suspected to originate from anal cryptitis, which will later form a perianal abcess. Androgen excess during the foetal stage could be the cause of the formation of abnormal crypts of Morgagni, which encourages cryptitis and abcess formation. In childhood some predisposing factors can exist, as immunodeficiency or colopathy. On the opposite, a predisposing condition is rare in infancy. Twenty-eight to 85 per cent of infants with perianal abcess may progress to form a fistula. The usual treatment of perianal abcess is incision and drainage; it may be completed by fistulotomy or fistulectomy. The antibiotherapy is not systematic. The identification of the corresponding crypt may be important to avoid recurrence. On the opposite, a recent prospective study proposes a non operative management of perianal abcess and fistula-in-ano in healthy infants.

Abscess↗
PubMed2002

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.

Netherton syndrome (NS) is a severe autosomal recessive ichthyosis with no specific treatment or prenatal diagnosis available at present. The recent identification of SPINK5, which encodes a serine protease inhibitor, as the defective gene enables DNA based prenatal diagnosis to be carried out. Here we report the first direct molecular prenatal diagnosis of a lethal form due to a recurrent SPINK5 mutation in three consanguineous Turkish families. XmnI restriction enzyme digestion and DNA sequencing demonstrated that each deceased affected child was homozygous for mutation 153delT inherited from each parent. Analysis of fetal DNA from amniotic fluid cells in Family 1 and from a chorionic villus sampling in Family 3 showed that the fetus was heterozygous for 153delT in both cases. The pregnancies were carried to term and the newborns were unaffected. In Family 2, fetal DNA analysis from chorionic villus biopsy showed in a first pregnancy that the fetus was homozygous for 153delT. The pregnancy was terminated at 13 weeks and DNA analysis of fetal keratinocytes confirmed the prenatal prediction. In a second pregnancy in Family 2, fetal DNA analysis showed heterozygosity for 153delT, and the pregnancy was continued. Direct SPINK5 mutation analysis in families at risk for NS represents the first early, rapid and reliable method for prenatal diagnosis of this life threatening form of ichthyosis.

Amniocentesis↗
PubMed2002

[Cutaneous hydration of the premature and new born].

The barrier function of the stratum corneum is a fundamental element in maintaining cutaneous hydration. Alteration in the stratum corneum leads to the loss of this barrier function, with increased transdermal water loss, decreased water content and installation of xerosis. Moisturizers correct cutaneous xerosis by restoring the stratum corneum. In the new born, the architectural and biochemical structure of the stratum corneum is identical to that of infants and adults. However, 60 p. cent of new born exhibit physiologic desquamation, demonstrating a transitory functional deficit in the stratum corneum, justifying emollient treatment. After this physiological desquamation period, emollients are reserved for atopic infants or those presenting keratinization disorders. In the premature, the epidermis and particularly the stratum corneum are immature; trans-epidermal water loss is elevated and the skin is dry or even fissural. The interest of applying emollients to the skin of premature new born was recently demonstrated. Emollients improved the aspect of the skin and also decreased the number of infectious episodes.

Body Water↗
PubMed2001

Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.

Change of the clinical picture with aging is noted in some patients suffering from junctional epidermolysis bullosa (JEB), an inherited blistering disorder caused by extensive disadhesion of the epithelia. We have studied a patient born with severe JEB associated with absent expression of laminin 5. A remarkable reduction of the blistering tendency was observed with aging that correlated with a restored expression of immunoreactive laminin 5 molecules. Genetic analysis of the gene LAMB3 detected compound heterozygosity for the nonsense mutation R635X and a novel 2 bp deletion (1587delAG) resulting in a downstream premature termination codon. RT-PCR amplification of total RNA purified from skin biopsies demonstrated that the mutated beta3 mRNAs underwent rapid decay shortly after birth, and that illegitimate splicing of the mRNA carrying mutation 1587delAG generated a new internally shortened beta3 transcript with advancing age. Our genetic and biochemical data show that (i) the illegitimate splicing of the beta3 pre-mRNA results in synthesis and secretion of a laminin 5 heterotrimer with an internally deleted beta3 polypeptide, (ii) expression of the mutated beta3 polypeptide is up-regulated in the basal keratinocytes with high proliferative potential, (iii) absence of the N-terminal region of the beta3 rod domain II thought to stabilize the tertiary structure of the laminin 5 is not required for the assembly of the protein and (iv) the mutant laminin 5 retains its adhesive potential. Our results demonstrate that mRNA rescue may underlie the evolution of the clinical phenotype in inherited skin conditions.

Age Factors↗
PubMed2001

Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation.

Laminin 5, the major keratinocyte adhesion ligand, is found in the lamina lucida subregion of the epidermal basement membrane of the skin, where it colocalizes with the anchoring filaments. Mutations in the genes encoding laminin 5 cause junctional epidermolysis bullosa, an inherited skin blistering disease characterized by abnormal hemidesmosomes and cleavage of the lamina lucida leading to epidermal detachment. In this work we describe the genetic basis of a new subtype of lethal inherited epidermolysis bullosa associated with reduced skin reactivity to laminin 5, presence of mature hemidesmosomes, and intradermal cleavage of the skin. The epidermolysis bullosa patients were heterozygous for a nonsense mutation (Q896X) and a splice site mutation (764-10T-->G) in the gene (LAMC2) for the gamma2 chain of laminin 5. The nonsense mutation causes accelerated decay of the corresponding mRNA, while the splice site mutation results in maturation of a cryptic wild-type gamma2 mRNA leading to reduced expression of wild-type laminin 5. In vitro studies using the probands' keratinocytes showed that secretion of reduced amounts of functional laminin 5 in the patient, although permitting formation of hemidesmosomes, fail to restore efficient cell adhesion. Our results provide the first evidence that laminin 5 contributes to the firm adhesion of the epithelial basement membrane to the underlying stroma. They also show that a low expression level of laminin 5 induces assembly of mature hemidesmosomes in vivo but fails to assure a stable cohesion of the dermal-epidermal junction.

3T3 Cells↗
PubMed2001

Differentiation of Langerhans cells in Langerhans cell histiocytosis.

Langerhans cell histiocytosis (LCH) consists of lesions composed of cells with a dendritic Langerhans cell (LC) phenotype. The clinical course of LCH ranges from spontaneous resolution to a chronic and sometimes lethal disease. We studied 25 patients with various clinical forms of the disease. In bone and chronic lesions, LCH cells had immature phenotype and function. They coexpressed LC antigens CD1a and Langerin together with monocyte antigens CD68 and CD14. Class II antigens were intracellular and LCH cells almost never expressed CD83 or CD86 or dendritic cell (DC)-Lamp, despite their CD40 expression. Consistently, LCH cells sorted from bone lesions (eosinophilic granuloma) poorly stimulated allogeneic T-cell proliferation in vitro. Strikingly, however, in vitro treatment with CD40L induced the expression of membrane class II and CD86 and strongly increased LCH cell allostimulatory activity to a level similar to that of mature DCs. Numerous interleukin-10-positive (IL-10(+)), Langerin(-), and CD68(+) macrophages were found within bone and lymph node lesions. In patients with self-healing and/or isolated cutaneous disease, LCH cells had a more mature phenotype. LCH cells were frequently CD14(-) and CD86(+), and macrophages were rare or absent, as were IL-10-expressing cells. We conclude that LCH cells in the bone and/or chronic forms of the disease accumulate within the tissues in an immature state and that most probably result from extrinsic signals and may be induced to differentiate toward mature DCs after CD40 triggering. Drugs that enhance the in vivo maturation of these immature DCs, or that induce their death, may be of therapeutic benefit.

Antigens, CD↗