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C Blanchet-Bardon

Publications and source records attributed to C Blanchet-Bardon.

At least 19 recordsLinked to original sources
PubMed2006

Evidence of a marked 25-hydroxyvitamin D deficiency in patients with congenital ichthyosis.

BACKGROUND: Vitamin D is essential for bone mineralization, and its deficiency may be the cause of skeletal fractures and osteomalacia. Geographical or ethnic factors may modulate the cutaneous synthesis of vitamin D. We hypothesized that major changes in keratinization may similarly alter the cutaneous synthesis of vitamin D. OBJECTIVES: To explore calciotrophic hormones, parameters of bone remodelling and bone mineral density (BMD) in nine patients with non-bullous congenital ichthyosis. PATIENTS AND METHODS: Six patients were European, three were North African. Four had received acitretin over a long period of time. A complete biological investigation, including serum and urinary calcium and phosphorus, calciotrophic hormones [intact parathyroid hormone (iPTH), 25-hydroxyvitamin D (25-(OH)D) and 1,25-dihydroxyvitamin D (1,25-(OH)2D)], bone formation and resorption markers, was performed on all patients during the winter season and repeated among four patients after summer. BMD was measured in all patients. RESULTS: All patients had a marked 25-(OH)D deficiency, clearly below the deficiency threshold of 25 nmol/L. Patients from North Africa had a greater deficiency than European patients, perhaps because of the difference in skin pigmentation. iPTH remained normal in European patients but was elevated among the North Africans. After sun exposure, an improvement in vitamin status was visible in only one patient. Bone formation and resorption markers remained normal. Femoral neck osteodensitometry indicated values near the osteopaenic threshold in two young North African females. No deleterious effect of retinoids on vitamin D metabolism was observed. CONCLUSION: Patients, and in particular pigmented patients, with congenital ichthyosis present a severe deficiency in vitamin D. Care provided to protect the skeletal future of these patients involves measuring BMD and prescribing supplementation.

Adolescent↗
PubMed2005

Using Urgotul dressing for the management of epidermolysis bullosa skin lesions.

OBJECTIVE: To evaluate the acceptability, tolerance and efficacy of Urgotul wound dressing in the management of epidermolysis bullosa (EB) skin lesions. METHOD: This was an open-label uncontrolled clinical trial involving 20 patients (I I adults and nine children) with EB simplex or dystrophic EB. Patients were selected from the register of EB patients at the investigating centre and included if they presented with at least one skin lesion requiring management with a non-adherent wound dressing. Lesions were treated with the study dressing for a maximum of four weeks. All dressing changes, wound parameters, pain and effect on quality of life were recorded. RESULTS: All patients completed the trial. Nineteen out of 20 wounds healed within 8.7 +/- 8.5 days. Overall, 11 patients (55%) considered that their quality of life had improved following use of the dressing, which was also reported to be pain free and 'very easy' or 'easy' to remove at most dressing changes. Nineteen out of 20 patients stated that they would use the study dressing to manage their lesions in future. CONCLUSION: This study confirmed the very good acceptability and efficacy of Urgotul in the treatment of skin lesions in patients with EB.

Adolescent↗
PubMed2004

[Role of cutaneous pinch grafts in the healing of patients with dystrophic epidermolysis bullosa wounds: report of four cases].

Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined skin fragility disorders in which minor trauma leads to blister formation on the skin. One of the most severe forms is Hallopeau-Siemens recessive dystrophic EB which main cause of mortality is squamous cell carcinoma (SCC). Exeresis of SCC leads to a difficult problem about treating the surgical wound. Most of the time, achieving a split-thickness skin graft on these severely affected EB patients is either too difficult or gives poor quality results. In some cases, flaps could be performed but they represent a too aggressive solution. However cutaneous pinch grafting is really adapted to the healing of these wounds. We have reported 4 cases of patients with recessive dystrophic EB complicated with SCC from 30 mm to 270 mm. After surgical excision of these SCC, dressings have been applied until obtaining a good enough floor for achieving a skin graft. The four patients have been treated by cutaneous pinch grafting. Airway management and monitoring have required particular precautions for avoiding anaesthetic related morbidity. We have noticed no adverse effect. A complete healing of good quality has been obtained in all cases (3 to 16 months of follow-up). No recurrence of SCC has been noticed and donors sites have had got a good healing. Relating to the healing of wounds after exeresis of SCC in case of dystrophic EB, cutaneous pinch grafting represents the most reliable solution with a minimum of physical traumatism.

Adult↗
PubMed2004

[Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens) with IgA nephropathy: 4 cases].

BACKGROUND: The Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe hereditary dermatosis, associated with a collagen VII deficiency. A chronic inflammatory syndrome, secondary to recurrent cutaneous infections, may be the cause of AA amyloidosis, with chronic renal failure, involving life prognosis. Less frequently, an IgA glomerulonephritis may occur and induce renal failure. Only two cases have been previously described. We report herein four new cases. CASE REPORT: We report four cases of HS-RDEB associated with IgA glomerulonephritis. A renal biopsy confirmed the diagnosis in all four cases. Later on, two patients had a second renal biopsy, indicated for deterioration of renal function. One of these patients showed AA type renal amyloidosis on the second biopsy. None of these six biopsies, conducted in our four patients led to local cutaneous complications. Subsequently three patients presented with terminal renal failure. Hemodialysis was set up, with good tolerance and improvement in quality of life. DISCUSSION: IgA glomerulonephritis should be suspected if a patient with HS-RDEB presents with hematuria. Renal biopsy is not contraindicated, confirms the diagnosis and helps to specify the prognosis. Hemodialysis is possible and well tolerated in the terminal stage of renal failure. There is not enough evidence for a genetic link between HS-RDEB and IgA glomerulonephritis, but repeated skin infections may be involved in the pathophysiology of the renal disease.

Adult↗
PubMed2004

Vitamin and trace metal levels in recessive dystrophic epidermolysis bullosa.

BACKGROUND: In recessive dystrophic epidermolysis bullosa (RDEB), a good nutritional balance is necessary to obtain healing of the chronic wounds. However, involvement of the oral mucosa and oesophagus stenosis may be responsible for severe nutritional deficiencies. OBJECTIVE: In order to propose an adapted nutritional management, we studied the vitamin and trace metal status of 14 RDEB patients. METHODS: Height and weight were measured. Plasma levels of albumin, iron, ferritin, calcium, parathyroid hormone (PTH), folates, vitamins C, D, B12, A, E, B1, B6, PP and B2, zinc, selenium, carnitine and copper were measured. RESULTS: Most patients had a significant growth retardation. We found iron, vitamin D, C, B6, PP, zinc and selenium deficiencies in 36-70% of the patients, without clinical expression, except in one case. Vitamin B1, 12, B2, A/RBP, E/lipids and carnitine were normal. The three patients with gastrostomy feeding had better growth but still a protein deficiency and sometimes vitamin C, B6, PP, zinc and carnitine deficiencies. CONCLUSION: Vitamin and trace metal deficiencies are frequent in RDEB, even in patients receiving gastrostomy feeding, and often go unrecognized. Regular nutritional evaluation is necessary. Dietary advice and supplements should be given. Enteral feeding by gastrostomy should be discussed in early childhood.

Adolescent↗
PubMed2001

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition. Mutations in the CTSC gene that encodes cathepsin C have been described in families affected with Papillon--Lefèvre syndrome. Cathepsin C is the least understood of the lysosomal cysteine proteases; it has been reported to participate in both intracellular and extracellular cleavage of proteins and activation of serine proteases in immune and inflammatory cells. We report here eight new mutations in Papillon-Lefèvre syndrome families: four deletions and four point mutations, including a missense mutation in the propeptide chain that could help elucidate structure-function relationships in this protein. We also found that the 458C > T mutation, first reported in two families by Hart et al (2000c), was a neutral polymorphism in our families, as suggested by Allende et al (Cathepsin C gene: first compound heterozygous patient with Papillon--Lefèvre syndrome and novel symptomless mutation. Hum Mutat 17:152-153, 2001).

Africa, Northern↗
PubMed2001

Bullous and non-bullous ichthyosiform erythroderma associated with generalized pustular psoriasis of von Zumbusch type.

Bullous ichthyosiform erythroderma (BIE) and non-bullous ichthyosiform erythroderma (NBIE) are rare congenital ichthyoses. Generalized pustular psoriasis (GPP) of von Zumbusch type is a rare and severe form of psoriasis marked by desquamative and pustular erythroderma associated with fever and altered general conditions. We report two adults with an ichthyosis typical of BIE in the first case and NBIE in the second, without any previous history of psoriasis, who presented with a severe and relapsing GPP of von Zumbusch type. Using current knowledge of the genetic relationship between psoriasis and congenital ichthyoses, we discuss the possibility of a common physiopathological link between congenital ichthyoses and GPP, and examine the possible therapeutic problems resulting from this pathological association, especially in BIE.

Adult↗
PubMed2001

Comparison of the capsular response to the Biocell RTV and Mentor 1600 Siltex breast implant surface texturing: a scanning electron microscopic study.

The utility of mammary prosthesis texturing in the prevention of capsular contracture was established some 20 years ago. Various models of implant texturing are currently on the market. We decided to study two of the most popular implants with two different surface texturings: the Biocell RTV and the Mentor 1600 Siltex. An observation at the electron microscopic level of the implants' surfaces was achieved. At the time of a prospective survey on 10 patients, the capsule fragments corresponding to these two prostheses have been analyzed at the electron microscopic level. All prostheses were removed from the patients because of asymmetry or bad positioning. The aim of our study was to establish a correlation between these two frequent texturing surfaces and their corresponding capsules. Our results showed that only the Biocell's capsules present a mirror image with correspondence of the depressions on the prosthesis and contacts on the capsule. This phenomenon seems linked to the existence of a critical size of the pores constituting the implant surface. This observation leads us to the hypothesis of an adhesive effect between the prosthesis and its capsule. If this last is not directly linked to the prevention of capsular contracture, it can have an effect on implant stabilization in the primary mammary reconstruction and in the secondary corrections of asymmetry or bad position.

Breast↗
PubMed2001

[A scanning electron microscopy study of the surface of porous-textured breast implants and their capsules. Description of the "velcro" effect of porous-textured breast prostheses].

The efficacy of breast prosthesis texturing in the prevention of capsular contracture has been established for about 20 years. This successful procedure has led to the development and marketing of a number of different models. In the present study, four porous-textured breast prostheses have been examined: the Arion monoblock implant, the CUI (McGahn), the Biocell (Mcgahn), and the Sebbin LS21. Scanning electron microscopic (SEM) investigation of the implant surfaces of the different prostheses was carried out on new samples received from the manufacturers. During a prospective study on eight patients, capsule samples corresponding to the four above-mentioned prostheses were taken to determine whether a secondary intervention was necessary for correction of asymmetry or malpositioning. These samples were analyzed by SEM to investigate whether there could be a correlation between prosthesis texturing and the aspect of the corresponding capsules. Significant ultrastructural differences were found between the various prostheses examined: the results showed that only the CUI and Biocell prostheses presented a mirror image of the capsule texturing, with a correspondence between the depressions on the prosthesis and the contacts on the capsule. This finding seems to be linked to the existence of a critical size for the pores that constitute the implant surface. This observation led to the hypothesis of an adhesive "velcro" effect between the prosthesis and its capsule. Although the latter may not be directly linked to the prevention of capsular contracture it can, however, have a major effect on implant stabilization in cases of primary breast reconstruction and in possible secondary adjustments of asymmetry and malpositioning.

Adult↗
PubMed2001

[Schopf-Schulz-Passarge syndrome: 2 cases].

BACKGROUND: Schöpf-Schulz-Passarge's syndrome is a rare autosomal recessive genodermatosis associating hypodontia, palmoplantar keratoderma, cysts of the eyelid margins, onychodysplasia and hypotrichosis. We report two new cases. CASE REPORT: Case no. 1: A 49 year-old woman complained of erosive and fissured palmoplantar keratoderma. Nails were fragile and dystrophic. Permanent teeth were absent. She also had many small cysts of the eyelid margins and a middle hypotrichosis. There was no consanguinity between her parents. Case no. 2: A 56 year-old man was seen for red, scaly and well marked palmoplantar keratoderma. Permanent teeth were absent. He had a hair loss since the age of 30. Nails were hypoplastic and there were many small cysts of the eyelids. Biopsy of one of the cysts showed a follicular cyst associated with sweat duct dystrophy. Schöpf-Schulz-Passarge's syndrome was diagnosed in these 2 patients. There was no evidence of associated cutaneous tumors. DISCUSSION: Differential diagnosis of Schöpf-Schulz-Passarge syndrome include other genodermatoses comprising palmoplantar keratoderma and dental abnormalities. Benign or malignant tumors are frequently associated: eccrine poromas, eccrine syringofibroadenomas, follicular tumors, basal cell and squamous cell carcinomas. Tumors usually appear after the age of 60. Regular follow-up and biopsy of the suspect lesions are necessary.

Biopsy↗
PubMed2000

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 25 weeks' gestation did not find spina bifida, but polyhydramnios with a dilated stomach, and several other anomalies: echogenic particles in the amniotic fluid, a thin skin which closely adhered to the nasal bones, narrow nostrils, abnormal ears, fisted hands, malposition of both first toes, and kidney malformation. Despite no previous case in the family, it was thought that sonographic findings were suggestive of the PA-JEB syndrome. A fetal skin biopsy was carried out at 28 weeks' gestation. The ultrastructural examination of fetal skin displayed JEB. Genetic analysis detected a homozygous mutation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the case of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural examination of blistered epidermis. Some new sonographic signs should raise the possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia.

Abnormalities, Multiple↗
PubMed2000

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family.

Hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and palmoplantar hyperkeratosis, which maps to chromosome 13q11-q12.1. We confirmed linkage of HED to this region in a large French family. To define the critical region for HED, detailed haplotypes were constructed with new pericentromeric polymorphic markers. A recombination event in the family indicates that the HED locus maps centromeric to D13S1832. Our French family does not share a common haplotype with other pedigrees previously published (particularly French-Canadian), indicating that the mutations in these families are likely to be of different origin.

Chromosomes, Human, Pair 13↗
PubMed2000

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first gene for LI, transglutaminase TGM1, has been identified on chromosome 14, and a second one has been localized on chromosome 2. In a genomewide scan of nine large consanguineous families, using homozygosity mapping, two new loci for ARI were found, one for a lamellar form in a 6-cM interval on chromosome 19 and a second for an erythrodermic form in a 7.7-cM interval on chromosome 3. Linkage to one of the four loci could be demonstrated in more than half of 51 consanguineous families, most of them from the Mediterranean basin. All four loci could be excluded in the others, implying further genetic heterogeneity in this disorder. Multipoint linkage analysis gave maximal LOD scores of 11.25 at locus D19S566 and 8.53 at locus D3S3564.

Chromosome Mapping↗
PubMed1999

Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.

Lamellar ichthyosis (LI) is an autosomal recessive genodermatosis which has been shown to be both clinically and genetically heterogeneous. Keratinocyte transglutaminase (or transglutaminase 1: TGM1) has been demonstrated to be the disease-causing gene in some families, whilst in others, a second unidentified LI gene was mapped to chromosome 2q33-35 (ICR2B locus). In this study, we present a physical map that encompasses the ICR2B locus, including the mapping of new microsatellite markers. Based on this new map, genotyping additional families highly suggests a reduction in size of the candidate interval. The final interval is covered by a single yeast artificial chromosome (937-H-3) which is 2.2Mb in length. Fine mapping of potential candidate transcripts was also focused on this region.

Chromosomes, Artificial, Yeast↗
PubMed1998

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was recently illustrated by a four-generation family, although NF1 and NS were eventually demonstrated to segregate independently on the basis of polymorphic DNA markers [Bahuau et al., 1996: Am J Med Genet 66:347-355]. Identification of the causal NF1 mutation seemed a prerequisite to further dissecting this singular familial association. Using the protein truncation assay, a nonsense mutation (C2446T-->R816X) of the neurofibromin gene was evidenced. This mutation occurred on a CpG dinucleotide within exon 16 and 5' to the GAP domain-specifying region of the gene. R816X creates a recognition site for endonuclease HphI, absent in 2 individuals with NS only. Screening 184 unrelated NF1 patients, three novel occurrences of the mutation were found in individuals diagnosed with classical NF1. Based on the assumption of genotype-phenotype correlation in these individuals, clinical and molecular analyses of this four-generation family demonstrated that the NF-NS phenotype was additive, being the result of both classical NF1 and NS. This particular observation also suggests the presence of an NS locus on 17q, which might be of interest for further linkage studies.

DNA Mutational Analysis↗
PubMed1997

High-intensity lesion on T1-weighted MR images in neurofibromatosis type 1: a case of premalignant lesion.

We report a patient with NF1, who was followed up because of an optic glioma and one enhancing lesion presumed to be a pilocytic astrocytoma. T1- and T2-weighted MR images showed also a hyperintense periventricular lesion with no enhancement and no mass effect, of an unsuspected nature. Three years later a glioblastoma multiforme developed at the site of this preceding lesion.

Adult↗