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Biomedical subjects

J L Bonafé

Publications and source records attributed to J L Bonafé.

At least 19 recordsLinked to original sources
PubMed2002

Acantholytic dyskeratotic epidermal nevus: a rare histopathologic feature.

BACKGROUND: Epidermal nevus is a congenital malformation of the epidermis consisting of verrucoid scaly plaques on the skin, often in a linear fashion. Different histologic features have been seen and, at times, acantholytic dyskeratosis has been observed. We report a new case of acantholytic dyskeratotic epidermal nevus. CASE REPORT: A 3-year-old girl presented, since birth, asymptomatic keratotic scaly lesions on the left hemithorax and left arm that followed Blaschko's lines. HISTOLOGY: Biopsies revealed acanthosis, papillomatosis, hyperkeratosis and focal areas of suprabasal clefting with acantholysis, as well as individual dyskeratotic cells (corps ronds et grains) in the upper layers of the epidermis. In the literature, this histologic feature has been reported twice. Generalized or localized Darier's disease are well-established clinical entities with characteristic histologic features of acantholytic dyskeratosis. Because of the linear clinical appearance and the onset at birth or early childhood, the lesions should be regarded as epidermal nevi and not linear Darier's disease. CONCLUSION: We report here an additional case of dyskeratotic epidermal nevus, which is a rare histopathologic feature.

Acantholysis↗
PubMed2002

[Cutaneous drug eruption with two antihistaminic drugs of a same chemical family: cetirizine and hydroxyzine].

BACKGROUND: H1-antihistamines are widely used to relieve symptoms of allergic disorders. A few skins reactions to H1-antihistamines have been described in the literature. We report the first case of cutaneous drug eruption as fixed drug eruption with 2 antihistamines of the same chemical family: cetirizine and hydroxyzine. CASE REPORT: A 73 year-old man was admitted because of a third cutaneous eruption with the same morphologic features of the same sites as before. The first and second eruption appeared after 4 hours of cetirizine intake, the third eruption appeared after 4 hours of hydroxyzine intake. Healing was obtained after stopping the medication. Histology showed induced drug reaction. Patch tests with cetirizine and hydroxyzine were negative, except false positivity with dimethylsulfoxide vehicles. DISCUSSION: The diagnosis of cutaneous drug eruption as non pigmenting fixed drug eruption related to cetirizine and hydroxyzine was retained. Allergy to both H1 antihistamines can be explained by the fact that they've got the same chemical node that is piperazine, and by the fact that cetirizine is the main metabolite of hydroxyzine. Oral test provocation was omitted because the patient had already reexposed himself to the drugs. To identify the drug responsible for fixed drug eruption, peroral provocation tests are the most valuable method, but carry the risk of a strong reaction. Some authors use patch tests, but their positivity is inconstant. Their interest in fixed drug eruption is undergoing assessment.

Aged↗
PubMed2001

[Eruptive pseudoangiomatosis in an adult renal transplant recipient].

BACKGROUND: In 1969, Cherry et al. described four children with acute onset angioma-like papules with spontaneous regression during an acute viral infection. Similar cases, called eruptive pseudoangiomatosis, have been reported since and considered to be a viral exanthema. We observed a similar eruption in a 48-year-old male kidney transplant recipient. CASE REPORT: One month after kidney transplantation, the patient rapidly developed macules and papules on the trunk. He had unexplained fever 15 days before the eruption. A biopsy specimen revealed dermal blood vessels surrounded by lymphoid infiltrate. Serology tests were unable to identify any virus. The lesions resolved spontaneously within 15 days. DISCUSSION: In our patient, eruptive pseudoangiomatosis was diagnosed on the basis of the clinical and histological features and the disease course. This case demonstrates that the entity is not limited to children. Further cases should be studied to determine the precise pathogenics of this uncommon entity.

Angiomatosis↗
PubMed2001

[Sodium valproate-induced kinky hair].

BACKGROUND: We report a case of acquired progressive kinking hair, a rare pilar dysplasia. This is the first case induced by sodium valproate. CASE REPORT: A 6-year-old girl, treated with valproate, observed a progressive change in the texture of her hair. They were kinky, lusterless, dry and, under light microscopy, exhibited an aspect of pseudo-pili torti. DISCUSSION: This child had acquired progressive kinking hair syndrome most likely induced by valproate. Five other cases of valproate-induced pilar dysplasia have been reported but without clinical descriptions. CONCLUSION: We propose adding sodium valproate to the list of drugs susceptible of inducing kinky hair syndrome.

Child↗
PubMed2000

[Drug hypersensitivity syndrome to valproic acid].

BACKGROUND: Drug-induced hypersensitivity syndrome is an uncommon but potentially life-threatening idiosyncratic drug reaction. It is usually due to aromatic anti-convulsants. We report the second case induced by sodium valproate, a non-aromatic anticonvulsant. CASE REPORT: A 28-year-old woman was treated with sodium valproate for 5 weeks. She suddenly developed a generalized maculo-papulous eruption with fever, node enlargement, hypereosinophilia and altered liver function. DISCUSSION: Drug-induced hypersensitivity is rarely induced by valproic acid. The time-course and positive patch tests using the diluted drug establish the diagnosis.

Adult↗
PubMed2000

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.

Abnormalities, Multiple↗
PubMed2000

Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Netherton syndrome (NS [MIM 256500]) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic manifestations. Infants with this syndrome often fail to thrive; life-threatening complications result in high postnatal mortality. We report the assignment of the NS gene to chromosome 5q32, by linkage analysis and homozygosity mapping in 20 families affected with NS. Significant evidence for linkage (maximum multipoint LOD score 10.11) between markers D5S2017 and D5S413 was obtained, with no evidence for locus heterogeneity. Analysis of critical recombinants mapped the NS locus between markers D5S463 and D5S2013, within an <3.5-cM genetic interval. The NS locus is telomeric to the cytokine gene cluster in 5q31. The five known genes encoding casein kinase Ialpha, the alpha subunit of retinal rod cGMP phosphodiesterase, the regulator of mitotic-spindle assembly, adrenergic receptor beta2, and the diastrophic dysplasia sulfate-transporter gene, as well as the 38 expressed-sequence tags mapped within the critical region, are not obvious candidates. Our study is the first step toward the positional cloning of the NS gene. This finding promises a better understanding of the molecular mechanisms that control epidermal differentiation and immunity.

Adolescent↗
PubMed1999

Inhibitory effects of retinoids on vascular endothelial growth factor production by cultured human skin keratinocytes.

BACKGROUND: Vascular endothelial growth factor (VEGF), a potent angiogenic factor and vasodilator, is strongly expressed by epidermal keratinocytes in many angiogenesis-dependent skin disorders. Retinoids may modulate VEGF in skin and this may be related to an effect on rosacea. AIM: To investigate the effect of retinaldehyde on VEGF production by human keratinocytes. METHODS: The effects of different concentrations of retinoids (all-trans-retinal and all-trans-retinoic acid) on VEGF production by cultured human skin keratinocytes in both cell extracts and supernatants were determined. Expression of VEGF was analyzed by enzyme-linked immunosorbent assay (ELISA) and RT-PCR. RESULTS: The amount of cell-associated and secreted VEGF strongly decreased with retinoid concentration (e.g. 48, 69% inhibition at 0.1 microM all-trans-retinal and -retinoic acid, respectively, in the supernatants). In parallel, approximately 25% inhibition of VEGF mRNA expression was obtained in the presence of 0.01 microM all-trans-retinal. CONCLUSION: The decrease in VEGF expression by keratinocytes on contact with retinoids may prevent skin neoangiogenesis in certain skin diseases.

Cells, Cultured↗
PubMed1998

[Pilar dysplasia: an early marker of giant axonal neuropathy].

BACKGROUND: Giant axonal neuropathy is an autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system. Sensoromotor neuropathy develops around 3 years of age. Children have particular faces with curly hair. Characteristic pilar anomalies occur early and have diagnostic value. CARE REPORT: An Algerian boy born to consanguineous parents (first cousins) had language retardation and gait disorders developed around 3 years of age. At 9 years, the child was in a cachetic state with valgus feet, amyotrophy and diminished muscle force predominating distally, ataxia, areflexia, sensoromotor neuropathy and nystagmus. Skin tropism was altered with pale, thin and dry skin, cold, cyanotic limbs and thick curly hair. Electrophysiology explorations showed signs of chronic sensoromotor polyneuropathy with axonal predominance. Brain and spinal MRI revealed cerebellar atropy and signs of leukodystrophy. The spinal tap was normal. A neuromuscular biopsy confirmed the diagnosis of giant axonal neuropathy. At examination the hair was thick with reduced refrangibility and a pseudo-pili torti aspect. DISCUSSION: Giant axonal neurpathy is characterized by anomalous organization of the cytoskeleton of intermediary filaments in different types of cells. Hair anomalies occur early, before onset of neurological signs. At gross examination the hair is thick and curly, sometimes crimped and pale. Examination of the pilar shaft shows trichorrhexis nodosa, scalloped fringes and lack of internal structure. On the molecular level, there is a reduction in the number of bisulfur bridges which could be the cause of defective keratin filament alignement. Pathogenicaly, the pilar anomalies are considered as a direct manifestation of defective keratin organization characteristic of the disease.

Atrophy↗
PubMed1996

Vascular endothelial cells: targets for studying the activity of hair follicle cell-produced VEGF.

Fetal bovine aortic endothelial cells (FBAEC) were exposed to purified fractions of conditioned medium from cultures of hair dermal papilla cells (DPC) to determine the existence of any vascular endothelial growth factor (VEGF)-like paracrine activity of the latter. Such fractions were tested for stimulation of growth and migration of cultured FBAEC. In addition, VEGF secretion by DPC was measured by radioassay of VEGF receptors using FBAEC as target cells. The results showed that stimulation of FBAEC proliferation and migration following exposure to purified conditioned medium was dose-dependent. Radioreceptor assays of recombinant VEGF and purified DPC-conditioned medium showed competitive VEGF binding in FBAEC.

Animals↗
PubMed1996

Inhibitory effects of bFGF, VEGF and minoxidil on collagen synthesis by cultured hair dermal papilla cells.

Dermal papilla cells of rat vibrissa follicles cultivated in monolayers and in three-dimensional collagen gels show a different morphology in these culture systems. Dermal papilla cells cultured in lattices tend to express morphological features resembling those seen in vivo. Quantification of total collagen by incorporation of 3H-proline in monolayer cultures and in collagen lattices show that the amount of collagen found in dermal papilla cells is higher than that secreted. Moreover, collagen synthesis measured in lattices is reduced to about 50% of that found in monolayer cultures. The influence of growth factors on collagen synthesis by hair dermal papilla cells was investigated. We studied the effects of basic fibroblast growth factor (bFGF), vascular endothelial growth factor (VEGF) and minoxidil on collagen synthesis in monolayers and in lattices. VEGF, bFGF and minoxidil significantly decreased the total amount of collagen. In monolayer cultures, there was approximately a 30% inhibition of collagen production with 5 ng/ml bFGF, 0.1 ng/ml VEGF and 100 ng/ml minoxidil. However, in the lattices this inhibition was reduced to about half. These results suggest that both culture substrate and growth factors influence collagen production by rat hair dermal papilla cells.

Animals↗