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P Vabres

Publications and source records attributed to P Vabres.

At least 19 recordsLinked to original sources
PubMed2002

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.

A 24-year-old woman presented with bilateral giant intracavernous carotid artery aneurysms manifesting as a cavernous sinus syndrome on the left side, and anisocoria, ophthalmic pain, and oculomotor paresis on the left side. Physical examination showed mild hyperextensibility of the metacarpophalangeal joints, amelogenesis imperfecta, and hyperpigmentation following Blaschko lines. Analysis of the NEMO gene for incontinentia pigmenti syndrome and of collagen III for Ehlers-Danlos type IV was normal. Skewed X-inactivation patterns in blood lymphocytes were detected. To the best of our knowledge, this association of linear hyperpigmentation and cerebral aneurysms has never been previously reported.

Adult↗
PubMed2002

[Cowden's disease in an adolescent].

Cowden's disease is an autosomal dominantly inherited syndrome characterized by mucocutaneous lesions and multiple hamartomas. We report here a 12 years-old boy case with craniomegally, intestinal polyps, epilepsy and multiadenomatous goiter. All the lesions were beginnings. The predisposing genetic defect has been assignated to chromosomal 10 (PTEN-gene mutation). A long term follow-up is necessary because of the risk of malignancies.

Child↗
PubMed2002

[Johanson-Blizzard syndrome: a case report].

UNLABELLED: The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome. This syndrome includes congenital aplasia of the cutis, aplasia of the alae nasi, bilateral hearing loss, dental malformations and pancreatic insufficiency. CASE REPORT: We report a sporadic case male infant from nonconsanguineous parents. He presented aplasia of the cutis and high anorectal malformation, associated with exocrine pancreatic insufficiency. A colostomy was performed at birth and anorectal atresia was corrected surgically at two months. Exocrine pancreatic insufficiency required immediate enzyme supplementation.

Abnormalities, Multiple↗
PubMed2001

[Pigmented Paget's disease of the male nipple].

BACKGROUND: Mammary Paget's disease unfrequently occurs in males, and may be pigmented in rare instances. Differential diagnosis with malignant melanoma relies on immunohistochemical studies. CASE REPORT: 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. DISCUSSION: 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.

Aged↗
PubMed2001

[Imported cutaneous leishmaniasis caused by Leishmania infantum confirmed with immunoassay].

BACKGROUND: Localized cutaneous leishmaniasis acquired in France is rarely reported. Diagnosis usually relies on detection of leishmania on smears or by culture. CASE REPORT: 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. DISCUSSION: 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.

Animals↗
PubMed2000

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. The reasons for cell death in females and in utero lethality in males are unknown. The locus for IP has been linked genetically to the factor VIII gene in Xq28 (ref. 3). The gene for NEMO (NF-kappaB essential modulator)/IKKgamma (IkappaB kinase-gamma) has been mapped to a position 200 kilobases proximal to the factor VIII locus. NEMO is required for the activation of the transcription factor NF-kappaB and is therefore central to many immune, inflammatory and apoptotic pathways. Here we show that most cases of IP are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations. As a consequence, NF-kappaB activation is defective in IP cells.

Exons↗
PubMed2000

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.

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.

Alopecia↗
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

Two unusual tumors in a patient with xeroderma pigmentosum: atypical fibroxanthoma and basosquamous carcinoma.

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.

Biomarkers, Tumor↗
PubMed1999

[Bejel: an unusual cause of stomatitis in the child].

INTRODUCTION: Bejel (endemic syphilis) is usually encountered in children living in intertropical areas, although imported cases have been exceptionally reported in Europe. OBSERVATION: We report on a young girl aged 5 diagnosed in France, who had painless stomatitis and enlarged cervical nodes. Diagnosis of bejel was confirmed by serology, and spirochetes were shown inside mucous patches by biopsy specimen silver staining. Favorable clinical and serological outcome occurred following benzathin-penicillin therapy. Contamination is likely to have occurred in Mali where she had been living for several years, but secondary stage manifestations only appeared in France, where she was living for several months. DISCUSSION: Although rare in France, bejel should not be overlooked in children originating from countries where endemic syphilis has a high prevalence.

Biopsy↗
PubMed1998

[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I].

BACKGROUND: Diagnosis of neurofibromatosis type I (NF-1) relies on the NIH consensus conference criteria. However, because of delayed penetrance, they are of limited value in infancy or early childhood. Less frequent signs, namely blue-red and fusco-ceruleus macules, may be clues for diagnosis. CASE REPORTS: We report on two children, aged 2 1/2 and 5, in whom these cutaneous findings were present early in childhood. In addition, they had sufficient criteria for NF1. DISCUSSION: These cutaneous signs, although infrequently reported, are present early in life. Hence they may be useful clues for diagnosis of NF-1 in childhood.

Cafe-au-Lait Spots↗
PubMed1998

[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].

BACKGROUND: 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. CASE REPORT: 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. DISCUSSION: Although inconstantly present, skin manifestations of type I CDG syndrome are very suggestive and may be the inaugural signs of the disease.

Acyl Carrier Protein↗
PubMed1997

[Febrile toxiderma in children].

Febrile cutaneous drug reactions in the child represent 6% of paediatric hospitalizations for dermatologic reasons. Diagnosis is difficult, for both infectious diseases and drug allergy can induce the same skin reaction. The same eruption can correspond to several drug-induced reactions. In a single child, there may be several causes of skin eruption and several drugs inducing similar cutaneous reactions. Clinical diagnosis and the method of clinical imputability lead to diagnosis. Paraclinical methods are of limited interest. Symptomatic treatment is begun on emergency admission. Upon identification, the responsible drug can be withheld and the authorities responsible for post-marketing surveillance can be notified.

Child↗
PubMed1997

Atypical Lyme borreliosis in an HIV-infected man.

We report the fourth case of Lyme borreliosis in a man infected with human immunodeficiency virus (HIV). The erythema chronicum migrans was persistent, overlapping with meningoradiculitis. Repeated immunofluorescence tests for Borrelia burgdorferi sensu lato remained negative in both sera and cerebrospinal fluid (CSF), the enzyme-linked immunosorbent assay was weakly positive in serum and CSF and a Western blot was positive. The skin infiltrate was composed mostly of T lymphocytes with a CD4/CD8 ratio of 0.5. The course of the disease was favourable after treatment with intravenous ceftriaxone. Further studies are necessary to evaluate whether HIV infection influences, as does syphilis, the course and response to treatment of Lyme borreliosis. Serological tests are insufficiently sensitive and the Western blot assay is necessary to confirm Lyme disease in HIV-positive patients.

Blotting, Western↗