[Syphilis hepatitis and liver transplantation]. / Hépatite à syphilis et transplantation hépatique.

We report a case of secondary syphilis hepatitis in a liver-transplant patient. This homosexual male patient presented, 15 years after orthotopic liver transplantation, with non-squamous papulomacular rash, mild cytolysis, and anicteric cholestasis. Laboratory tests showed syphilis seroconversion with a venereal diseases research laboratory (VDRL) titer of 1/256, a Treponema pallidum hemaglutination assay (TPHA) of 1/5120, and a positive IgM fluorescent Treponemal antibody absorbance (FTA-abs). A liver biopsy performed 13 months after the diagnosis showed low-grade hepatitis with a Metavir score of A1F1; it also showed non-specific portal moderate inflammation consisting primarily of neutrophils, with no evidence of cholestasis. He was given benzathine-penicillin at 2,400,000 IU with a transient increase in prednisolone doses. Cytolysis rapidly, and cholestasis progressively disappeared. IgM FTA-abs became negative, whereas VDRL and TPHA titers decreased slightly over time.

[Early pseudoxanthoma elasticum with severe cardiovascular involvement]. / Pseudoxanthome élastique de survenue précoce avec atteinte cardiovasculaire sévère.

INTRODUCTION: Pseudoxanthoma elasticum is a rare inherited connective disorder, characterized by elastic tIssue degeneration. The onset of the symptoms usually occurs within the second decade of life. CASE REPORT: We describe the case of a 15 year-old boy, born to consanguin parents, who presented characteristic cutaneous signs of pseudoxanthoma elasticum. The patient had also presented with severe cardiovascular involvement of early onset, at the age of 6 months. The latter included episodes of ischemic stroke, arterial hypertension, thrombosis of the left iliac and carotid arteries and cardiomegaly. His sister suffered from isolated cutaneous involvement. Diagnosis of pseudoxanthoma elasticum was confirmed on the histology of the skin and molecular analysis in our patient and in his sister revealed the same homozygote mutation. DISCUSSION: The organs most commonly affected by pseudoxanthoma elasticum are the skin, eyes and vascular system. The cutaneous lesions are characteristic and usually appear around the age of 13. Ophthalmological involvement is frequent. Angioid bands are the most typical lesions; the occur between the ages of 14 and 25. Survival depends on the vascular damage. Conversely to our case report, it usually appears later in life, during the third decade. Arterial hypertension and intestinal bleeding have also been described. The cardiac involvement in our patient is rare. This boy and his sister presented with the same homozygote mutation. Such a major intra-familial clinical variability emphasizes the hypothesis of the absence of any genotype-phenotype relationship in pseudoxanthoma elasticum.

[Trichothiodystrophy and congenital heart disease in two sisters]. / Trichothiodystrophie et cardiopathie congénitale chez deux soeurs.

INTRODUCTION: Trichothiodystrophy refers to a heterogeneous group of autosomal recessive genodermatosis of unknown etiology. Patients with trichothiodystrophy have alopecia with typical hair dysplasia ("tiger-tail"), and abnormally low sulfur content. Numerous unrelated neuroectodermal defects have been observed in trichothiodystrophy. We report here trichothiodystrophy and congenital heart disease in two sisters. CASES REPORT: Two sisters were born as collodion babies and presented ichthyosis and alopecia. The diagnosis of trichothiodystrophy was confirmed by polarizing microscopy of hair and low sulfur content. Both had congenital heart disease. DISCUSSION: Cardiovascular defects have rarely been reported in trichothiodystrophy. The association trichothiodystrophy - congenital heart disease has never been described. The low incidence of both conditions suggests that these abnormalities are linked etiologically rather than by chance. Abnormal Notch signaling, or contiguous gene deletion syndrome could lead to combined phenotype as observed in our family.

[Xerosis]. / La xérose.

The clinical characteristic of xerosis is rough or coarse skin. Physiopathologically, the structure of the stratum corneum is modified and abnormalities in keratinization, proliferation, surface lipid, water metabolism and also pH and sebum exist. There are two forms of xerosis: dry skin forms and ichtyosis or ichtyosis-like forms. Xerosis has many etiologies including external aggression, senescence, drugs, infection, atopy, deficiencies, malignant diseases, endocrine affections, eating disorders and renal failure in dialyzed patients. It provokes cutaneous discomfort and unaesthetic appearance that justify appropriate treatment. Treatment is essentially local, symptomatic and must be accompanied by general measures. Many products include moisturizers and emollients (keratolytics: salicylic acid, urea and alpha-hydroxy acid).

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.

[Cutaneous drug eruption with two antihistaminic drugs of a same chemical family: cetirizine and hydroxyzine]. / Toxidermie à deux antihistaminiques ayant une parenté chimique: la cétirizine et l'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.

[Sodium valproate-induced kinky hair]. / Cheveux crépus acquis induits par le valproate de sodium.

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.

[Eruptive pseudoangiomatosis in an adult renal transplant recipient]. / Pseudo-angiomatose éruptive chez un adulte transplanté rénal.

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.

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.

[Drug hypersensitivity syndrome to valproic acid]. / Syndrome d'hypersensibilité médicamenteuse à l'acide valproïque.

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.

Identification of pancreatic type I secreted phospholipase A2 in human epidermis and its determination by tape stripping.

Phospholipases A2 (PLA2) catalyse the release of fatty acids from the sn-2 position of phospholipids and have been suggested to play a key part in permeability barrier homeostasis. Using a sensitive and versatile fluorometric method, significant PLA2 activity has been detected in both human skin homogenates and tape strippings of stratum corneum. Based on various properties (resistance to heat and sulphuric acid treatment, neutral optimal pH, absolute requirement for millimolar calcium concentrations, inhibition by dithiothreitol and p-bromophenacyl bromide, and resistance to a trifluoromethyl ketone derivative of arachidonic acid, AACOCF3, a specific inhibitor of cytosolic PLA2), this enzyme was characterized as a secretory PLA2 (sPLA2). Immunohistochemistry revealed strong labelling of type I pancreatic sPLA2 at the stratum corneum-stratum granulosum junction, type II sPLA2 being undetectable. An increase in PLA2 activity in tape-stripped material from the deepest level of the stratum corneum was correlated with partial morphological disappearance of type I sPLA2 immunolabelling. Our data thus provide the first convincing evidence that pancreatic sPLA2 is significantly expressed in human epidermis, where it might participate in the accumulation of free fatty acids contributing to the permeability barrier. In addition, our method for determining PLA2 activity in easily available tape strippings should allow further clinical studies aimed to explore possible PLA2 abnormalities in various dermatoses.

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.