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Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformative and 88/12) affected patients. After combining our data with data from the literature, we could not show a correlation between XCI in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases. [ABSTRACT FROM AUTHOR]

Left ventricular noncompaction cardiomyopathy ( LVNC) is a clinically heterogeneous disorder characterized by a trabecular meshwork and deep intertrabecular myocardial recesses that communicate with the left ventricular cavity. Several genetic causes of LVNC have been reported, with variable modes of inheritance, including autosomal dominant and X-linked inheritance, but relatively few responsible genes have been identified. A NGS workflow, based on a panel of 95 genes developed for sequencing most prevalent sudden cardiac death-causing genes, was used to make a rapid and costless molecular diagnosis in two siblings with a severe noncompaction cardiomyopathy starting prenatally and leading to rapid cardiac failure. For the first time, a total homozygous PKP2 deletion was identified. This molecular defect was further confirmed by MLPA and array-comparative genomic hybridization (CGH). Heterozygous PKP2 mutations are usually reported in a significant proportion of Arrhythmogenic Right Ventricular Cardiomyopathy cases. Our results show, for the first time, the involvement of PKP2 in severe cardiomyopathy with ventricular non compaction. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding OFD1 mutations in human males, ciliary basal body docking impairment, and phenotypic spectrum in oral-facial-digital syndrome type I (OFDSI).

Objective: To report four foetal cases of the Binder phenotype associated with maternal autoimmune disorders. Patients and Methods: In three mothers with autoimmune diseases, 2D and 3D ultrasonographic measurements were made on four foetuses with the Binder profile, and were compared with postnatal phenotypes. Results: The Binder phenotype can be detected in early pregnancy (14.5 WG). All foetuses had verticalized nasal bones and midfacial hypoplasia. Punctuate calcifications were found in almost all the cases. No specific maternal auto-antibody has been associated with foetal Binder phenotype. Conclusion: Since the Binder phenotype can be diagnosed at ultrasound examination during pregnancy, it is important to establish the underlying cause so as to assess the foetal prognosis. This study stresses the importance of systematic checks for maternal autoimmune disease in cases of prenatally diagnosed Binder phenotypes. [ABSTRACT FROM AUTHOR]

BACKGROUND We investigated the association of vascular endothelial growth factor (VEGF) gene polymorphism with recurrent spontaneous miscarriage (RSM). METHODS VEGF −2578C/A, −1154G/A, −634G/C, +936C/T single nucleotide polymorphisms (SNPs) were assessed in 304 RSM patients, and 371 age-and body mass index-matched control subjects using real-time PCR. RESULTS Higher minor allele frequency of −1154G/A (P < 0.001) and +936C/T (P < 0.001), but not −2578C/A (P = 0.55) or −634G/C (P = 0.87) SNPs, were seen in patients. Significant differences in the distribution of −1154G/A (P = 0.006) and +936C/T (P = 0.015), but not −2578C/A (P = 0.473) or −634G/C (P = 1.000) genotypes, were seen in cases compared with control women. Of the possible 16 VEGF haplotypes, 9 were found to be common, and were included. A significantly lower frequency of C G C C (P = 0.008), and A G G C (P < 0.001) haplotypes, and a higher frequency C G C T (P = 0.020), and C G T (P = 0.004) haplotypes were seen in patients. CONCLUSIONS These results strongly support that VEGF polymorphisms, in particular-1154G/A and +936C/T, are significantly associated with RSM. Our results confirm, in the largest sample to date, previous works in other populations on VEGF polymorphism in RSM. [ABSTRACT FROM PUBLISHER]

D Germanaud, M Rossi, G Bussy, D Gérard, L Hertz-Pannier, P Blanchet, H Dollfus, F Giuliano, V Bennouna-Greene, P Sarda, S Sigaudy, A Curie, MC Vincent, R Touraine, V des Portes. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. Since the first reports of polyglutamine-binding protein 1 ( PQBP1) mutations in Renpenning syndrome and related disorders, the spectrum of PQBP1-linked clinical manifestations has been outlined from rare published case reports. The phenotypic description is often obtained from medical archives, and therefore, heterogeneous. Moreover, some aspects such as brain imaging or cognitive and behavioral functioning are rarely described. In this study, 13 PQBP1-mutated French patients were subjected to a standardized clinical, cognitive and behavioral assessment. Physical measurements of their relatives were also collected. We report on a recognizable clinical and radiological phenotype. All patients presented with microcephaly, leanness and mild short stature, relative to familial measurements. Three new clinical features are described: upper back progressive muscular atrophy, metacarpophalangeal ankylosis of the thumb and velar dysfunction. The specific facial dysmorphic features included at least four of the following signs: long triangular face, large ridged nose, half-depilated eyebrows, dysplastic or protruding ears and rough slightly sparse hair. An over-aged appearance was noticed in elderly patients. Cortical gyrification was normal based on available magnetic brain imaging of six patients. PQBP1-linked microcephaly (or Renpenning syndrome) is an X-linked mental retardation syndrome, which has clinically recognizable features. [ABSTRACT FROM AUTHOR]

Objective Prenatal Binder profile is a well known clinical phenotype, defined by a flat profile without nasal eminence, contrasting with nasal bones of normal length. Binder profile results of a hypoplasia of the nasal pyramid (sometimes referred to as maxillonasal dysplasia). We report 8 fetuses prenatally diagnosed as Binder phenotype, and discuss their postnatal diagnoses. Methods Ultrasonographic detailed measurements in 2D and 3D were done on the 8 fetuses with Binder profile, and were compared with postnatal phenotype. Results All fetuses have an association of verticalized nasal bones, abnormal convexity of the maxilla, and some degree of chondrodysplasia punctata. The final diagnoses included fetal warfarin syndrome (one patient), infantile sialic acid storage (one patient), probable Keutel syndrome (one patient), and five unclassifiable types of chondrodysplasia punctata. Conclusion This series demonstrates the heterogeneity of prenatally diagnosed Binder phenotype, and the presence of chondrodysplasia punctata in all cases. An anomaly of vitamin K metabolism, possibly due to environmental factors, is suspected in these mild chondrodysplasia punctata. We recommend considering early prophylactic vitamin K supplementation in every suspected acquired vitamin K deficiency including incoercible vomiting of the pregnancy. Copyright © 2009 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e., nonsyndromic) HSCR, in conjunction with other autosomal susceptibility loci under a multiplicative model. HSCR susceptibility alleles can harbor either heterozygous coding sequence mutations or, more frequently, a polymorphism within intron 1, leading to a hypomorphic RET allele. On the other hand, about 30% of HSCR are syndromic. Hitherto, the disease causing gene has been identified for eight Mendelian syndromes with HSCR: congenital central hypoventilation (CCHS), Mowat-Wilson (MWS), Bardet-Biedl (BBS), Shah-Waardenburg (WS4), cartilage-hair-hypoplasia (CHH), Smith-Lemli-Opitz (SLO), Goldberg-Sprintzsen (GSS), and hydrocephalus due to congenital stenosis of the aqueduct of sylvius (HSAS). According to the HSCR syndrome, the penetrance of HSCR trait varies from 5 to 70%. Trisomy 21 (T21) also predisposes to HSCR. We were able to collect a series of 393 patients affected by CCHS (n = 173), WS4 (n = 24), BBS (n = 51), MWS (n = 71), T21 (n = 46), and mental retardation (MR) with HSCR (n = 28). For each syndrome, we studied the RET locus in two subgroups of patients; i.e., with or without HSCR. We genotyped the RET locus in 393 patients among whom 195 had HSCR, and compared the distribution of alleles and genotypes within the two groups for each syndrome. RET acts as a modifier gene for the HSCR phenotype in patients with CCHS, BBS, and Down syndrome, but not in patients with MWS and WS4. The frequent, low penetrant, predisposing allele of the RET gene can be regarded as a risk factor for the HSCR phenotype in CCHS, BBS, and Down syndrome, while its role is not significant in MWS and WS4. These data highlight the pivotal role of the RET gene in both isolated and syndromic HSCR. Hum Mutat 28(8), 790-796, 2007. © 2007 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Background: Recent investigations emphasized a high prevalence of Y-chromosome microdeletions in men having severely impaired spermatogenesis. Screening of these men is recommended prior to assisted reproduction techniques.Methods: The aim of this study was to define a reliable and efficient method to detect Y-chromosome deletions in infertile men. At first the feasibility of using a cytobrush to collect buccal cells as a source of DNA was tested. Then, a multiplex PCR in accordance with European recommendations (European Andrology Academia: EAA) was compared with a commercial kit. The test population consisted of 18 infertile male patients (with a known Y-deletion). Both buccal and blood cells were used for DNA extraction. A specific DNA extraction protocol was carried out on the buccal cells.Results: Between 4-10 micro g of DNA were retrieved per brush, allowing for several PCR attempts. The commercial kit failed to detect an AZFa deletion. Furthermore, markers sY130, sY133 and sY153, included in the kit, are not reliable. Both false negative and false positive results were generated by the commercial kit.Conclusion: A multiplex PCR performed pursuant to EAA recommendations is proposed. When the testing is conducted with DNA extracted from buccal cells, this protocol is simple, accurate and affordable. [ABSTRACT FROM AUTHOR]

The bystander effect (BSE) is an interesting and important property of the herpes thymidine kinase/ganciclovir (hTK/GCV) system of gene therapy for cancer. With the BSE, not only are the hTK expressing cells killed upon ganciclovir (GCV) exposure but also neighboring wild-type tumor cells. On testing a large number of tumor cell lines in vitro, a wide range of sensitivity to bystander killing was found. Since transfer of toxic GCV metabolites from hTK-modified to wild-type tumor cells via gap junctions (GJ) seemed to be a likely mechanism of the BSE, we tested GJ function in these various tumors with a dye transfer technique and pharmacological agents known to affect GJ communication. We confirmed that mixtures of tumor cells resistant to the BSE did not show dye transfer from cell to cell while bystander-sensitive tumor cells did. Dieldrin, a drug known to decrease GJ communication, diminished dye transfer and also inhibited the BSE. Forskolin, an upregulator of cAMP did increase GJ, but directly inhibited hTK and therefore its effect on BSE could not be determined. We conclude that these observations further support the concept that functional GJ play an important role in the BSE and further suggest that pharmacological manipulation of GJ may influence the outcome of cancer therapy with hTK/GCV. [ABSTRACT FROM AUTHOR]

The occurrence of liver tumours in the course of Fanconi anaemia (FA) has been well documented. We present a case, review the literature and conclude that androgen therapy would increase the risk of developing tumours, most of which appear to be benign (adenomas or peliosis) and androgen-dependent, generally decreasing in size after cessation of treatment. Survival of patients is poor, mostly because of the rapid evolution of the tumour. In the absence of an allogenic bone marrow transplantation, administration of haematopoietic growth factors might be effective. As a preventive measure, other types of unsubstituted androgens may be used. [ABSTRACT FROM AUTHOR]

Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia. Eighteen distinct mutations were found, only three of which had been reported previously in North American and Japanese populations. Most of the 15 new mutations were missense mutations, but we also found two mutations affecting donor splice sites and a nonsense mutation. A missense mutation in the last codon of the putative signal peptide probably affects the final maturation of the protein. Despite extensive sequencing of the gene and its promotor region, only one mutation was identified in two cases, one of which was compatible with a possible dominant effect of certain mutations and the putative role of polymorphisms of the TNSALP gene. In 12 of the 13 tested families, genetic diagnosis was possible by characterisation of the mutations or by use of polymorphisms as genetic markers. Hypophosphatasia diagnosis was assigned in two families where clinical, laboratory and radiographic data were unclear and prenatal diagnosis was performed in one case. The results also show that severe hypophosphatasia is due to a very large spectrum of mutations in European populations with no prevalent mutation and that genetic diagnosis of the disease must be performed by extensive analysis of the gene. [ABSTRACT FROM AUTHOR]

Presents letters to the editor regarding articles published in the previous issues of the "British Journal of Dermatology." "Lichen sclerosus et atrophicus in non-identical female twins," which discusses the development of perineal lichen sclerosus et atrophicus in female twins; "Influence of containers on the quantities of topical preparations used," which was about the dispensing of topical agents; "Laser, dermal fibroblasts and psoriasis," which was about psoriasis.

Extensive lesions on 36 patients with psoriasis were treated by Tigason, 1 mg kg/day plus PUVA until skin clearance. A clinical score was calculated for each body area, and erythema, scaling, thickness and pruritus of the lesions were scored from 0 to 3. Skin clearing was defined as a clinical score < 10% of the initial score. Double-blind maintenance treatment was then started. This was Tigason at half of the maximal dose tolerated during the clearing phase of the treatment v. placebo. Relapse of the disease was defined as the occurrence of a clinical score > 50% of the initial score. Among the 36 patients randomized, 20 received placebo and 16 received Tigason. Relapses increased quickly in the patients on placebo, but occurred in few patients treated by Tigason with 60% remaining clear after i year (P < 0.05). Surprisingly, the kinetics of disappearance of the most frequent side effect, cheilitis, was the same in the Tigason group and in the placebo group. This double-blind randomized clinical trial shows that Tigason at low doses is an efficient and well-tolerated maintenance treatment of psoriasis. [ABSTRACT FROM AUTHOR]

The initiating event of several immune effector functions in the skin is the presentation of antigens to lymphoid immunocornpetent cells. Two kinds of antigen-presenting cells have been identified in normal human epidermis: Langerhans cells (LC) and indeterminate cells (Rowden, Phillips & Lewis, 1979). They display a dendritic morphology, bear class II HLA-DR molecules, and are necessary for T-cell activation and proliferation. The role of these epidermal dendritic cells in epidermal cell-lymphocyte interactions and their antigen-presenting proper- tics have been studied in vitro in the mixed epidermal cell-lymphocyte reaction (MECLR). [ABSTRACT FROM AUTHOR]

Until recently, changes in cell physiology following application of pharmacological agents have been studied in vivo or in vitro using monolayered cells. Although both approaches have unique advantages, both have shortcomings. Now the development of a skin-equivalent model has provided a system for studying cell responses at the tissue and organ levels in vitro (Bell, Ivarsson & Merrill, 1979; Bell et at, 1981a, b). The in vitro tissue model can he made simple or complex with respect to cell type heterogeneity and matrix constitution; ideally, however, it should resemble skin as closely as possible. It has the special advantage, unlike skin, of being able to survive for long periods in vitro. In this paper we compare the model morphologically with skin arid review some aspects of the biosynthetic output of cells in the tissue equivalent with that of monolavered cells. Finally we illustrate in a pharmacological study that the model can be used to provide new information that in vivo studies or monolayer cell studies cannot yield. [ABSTRACT FROM AUTHOR]

The possible role of epidermal serine proteases in the genesis of psoriatic lesions was investigated by sequential biopsies of the epidermal damage induced by topical cantharidin. In the skin of normal subjects, epidermal damage was followed by the transient appearance of proteolytic activity in the upper epidermis accompanied by temporary hyperacanthosis and perivascular inflammatory cells in the superficial dermis. In the uninvolved skin of five patients with psoriasis this proteolysis persisted longer, for more than 7 days. Thereafter, in three of the patients, the proteolysis abated, and this was followed by disappearance of the hyperacanthosis and the dermal infiltrate; in the other two psoriatics the proteolysis and hyperacanthosis increased, and a typical Koebner phenomenon ensued. Migration of neutrophils into the epidermis occurred as a later event. Thus the abnormal persistence of proteolytic activity in the upper epidermis after cantharidin application distinguishes the normal from the psoriatic skin injury response and might initiate the psoriatic lesion. [ABSTRACT FROM AUTHOR]

A new diagnostic technique is describe, in which 0·7 mm thick slices of skin are freshly cut, thoroughly washed, slightly fixed and directly incubated in peroxidase-labelled antibodies. This easy technique allows routine immuno-electron microscopic diagnosis of subepidermal auto-immune bullous diseases, with excellent morphological results. [ABSTRACT FROM AUTHOR]

By using a very sensitive and reproducible skin chamber technique we have shown that the aromatic retinoid etretinate (Ro 10–9359) and its main metabolite (Ro 10–1670) significantly inhibit the migration of neutrophils from the blood to tissues when applied into skin chambers (0·1 mg/ml) or when given orally (1 mg/kg/day for 8 days) to normal volunteers. This pharmacological property could be closely linked to the antipsoriatic properties of these drugs. [ABSTRACT FROM AUTHOR]

Incubation of unfixed and unfrozen slices of skin in diaminobenzidine allows visualization of peroxidatic activity in the perinuclear envelope and endoplasmic redculum of normal human Langerhans cells. A similar peroxidatic activity is observed in supra-basal keratinocytes undergoing orthokeratotic differentiation. Basal keratinocytes and melanocytes are always negative. This enzyme is absent in mucous and parakeratotic (psoriatic) differentiation. A peroxidatic activity was also found in the endoplasmic reticulum of normal resident skin macrophages. Mitochondria are also strongly stained by this technique and it was shown that the number of epidermal mitochondria is greatly increased in psoriatic lesions. [ABSTRACT FROM AUTHOR]

Incubation of unfixed slices of skin for t h at 37°C in Hanks' medium allowed the expression of proteolytic activity in the upper keratinocyte layers in psoriatic lesions and, in some cases, in uninvolved skin of psoriatics, but never in normal skin. This proteolysis was inhibited by DFP and TLCK, known inhibitors of the neutral proteinase previously described as increased in psoriatic lesions. The topographical analysis of this proteolytic activity suggests that a disturbance of the protease-antiprotease equilibrium in human epidermis may be implicated in the appearance of psoriatic lesions. [ABSTRACT FROM AUTHOR]

Cellular events occurring in eight patients with bullous pemphigoid were studied by light and electron microscopy. Sections (0.5 μm) of large surface area, overlapping blisters and surrounding skin, were examined and correlated ultrastructural studies were performed on selected areas. The peroxidase contained in granules of neutrophils, eosinophils and young macrophages was visualized by incubation with diaminobenzidine and hydrogen peroxide. This cytochemical reaction was used as a marker to study the release of granule enzymes from these inflammatory cells. The release of such enzymes from eosinophils and occasionally from macrophages on the epidermal basement membrane (more precisely in the lamina lucida) was demonstrated in the skin surrounding the blisters in four patients. The release of these enzymes was also observed in the floor of the blisters in all eight patients. It is well known that these granules contain several proteolytic enzymes. These observations are therefore consistent with the proposal that proteolytic enzymes of eosinophils play a pathogenic role during the initial stages of blister formation in bullous pemphigoid. [ABSTRACT FROM AUTHOR]

The visualization of peroxidase positive lysosomes by diaminobenzidine plus H2O2 allowed easy identification of neutrophils, eosinophils, monocytes and young tissue macrophages in 0.2 μm to 0.5 μm skin plastic sections of large surface area. Evaluation of the lysosomal functions of these phagocytic cells was greatly improved by the possibility of correlating observations on the same cell at light and electron microscopic levels. [ABSTRACT FROM AUTHOR]

A method is described which allows the embedding of 6 mm cutaneous punch biopsies for subsequent light and electron microscopic examination. Sections of 20 mm2 cut at 0.5–1 μm are stained for light microscopy. The subtle tinctorial affinities, which approach those achieved on haematological smears, and the preservation of cellular detail frequently make subsequent ultrastructural examination unnecessary. However, when required, a special technique for trimming and resectioning the tissue blocks allows a good correlation between light and electron microscopic observations. [ABSTRACT FROM AUTHOR]

The carcinogenic risk of photochemotherapy (PUVA) with bi-functional furocoumarins such as 8-methoxypsoralen (8-MOP) which form cross-links in cellular DNA has initiated a search for active but less hazardous psoralens. A new compound, 3-carbethoxypsoralen (3-CPs), studied in the yeast Saccharomyces cerevisiae (eukaryote), has been shown to be very photoactive on DNA and to form only mono-additions to DNA. These Lesions appear to be more easily repaired than the cross-links induced by 8-MOP. 3-CP5 produces less nuclear genetic events such as nuclear mutations and mitotic crossovers, but more cytoplasmic `petite' mutations (damage to mitochondrial DNA) than 8-MOP. In mice it was demonstrated that after local or intra-peritoneal administration, in contrast to 8-MOP, 3-CPs is non-toxic, non-erythematogenic, and non-carcinogenic. A study of ten psoriatic patients has shown that local applications of 3-CP5 plus UV-A exhibit about the same therapeutic activity for the clearing of psoriatic lesions as local treatment with 8-MOP plus UV-A, but without any localized hyperpigmentation. [ABSTRACT FROM AUTHOR]

A lymphopenia (peripheral-blood-lymphocyte count <1,000/mm) was observed in seven out of ten patients with toxic epidermal necrolysis (TEN). The enumeration of T-lymphocyte subsets with monoclonal antibodies showed a decreased number of pan T-lymphocytes (OKT3-positive), which was related to a profound depletion of OKT4-positive cells. In contrast, OKT8-positive cell counts were not significantly changed. This abnormal balance of T-lymphocytes was linked to the acute phase of the disease and was not found after recovery. The pathogenetic mechanisms of such T-lymphocyte abnormalities in TEN remain unclear. [ABSTRACT FROM AUTHOR]

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Serum, red cell and squame folate content have been measured in fifty cases of psoriasis with extensive lesions. Reduced serum and red cell folate have been found in 44% of the patients. Folic aid absorption, studied in twenty-six patients, was impaired in four and significantly increased in all the others. Squame folate content has been found too low to explain the folate deficiency. Malabsorption is a possible hypothesis but it occurs too rarely (four cases). The most likely explanation of folate deficiency seems to be an increased utilization of folate by the skin epidermal cells as a result of the rapid turnover rate. The increased absorption found in most cases investigated could be a compensatory mechanism to equilibrate folate balance. [ABSTRACT FROM AUTHOR]

A 16-year-old Caucasian girl was admitted to hospital with acute renal failure and hemolytic anemia due to rhabdomyolysis following a 3-km walk. [sup 31]P-magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease (phosphofructokinase deficiency). [ABSTRACT FROM AUTHOR]

Wound healing is a very complex phenomenon involving blood, dermal and epidermal factors. These factors are tightly associated since, for example, dermo-epidermal injuries do cicatrize at a lower rate than same sized pure epidermal wounds (Pollack, 1979). On the other hand, in vivo studies of skin cicatrization are of critical interest since numerous pathological, pharmacological or physical conditions, such as occlusion by polyethylene film (Eaglstein & Mertz, 1978), do modify wound healing. In order to undertake in vivo studies in man for normal or pathological skin cicatrization with or without therapeutic agents, one has to use experimental procedures which fit at least three often conflicting conditions. Firstly, these procedures have to be related to the entire complex phenomenon. Secondly, the methods should give quantitative and reproducible data and, if possible, a kinetic evaluation. Thirdly, experimental procedures have to be as non-invasive as possible in order to be acceptable by human volunteers. Histological procedures have been already performed after dermo-epidermal injuries (Winter, 1972). They gave important qualitative results with regard to the entire phenomenon. However, they are invasive and therefore have been essentially performed on animals. Moreover, as far as histological procedures are concerned, quantitative evaluation is difficult. Therefore more analytical and quantitative experimental procedures are of interest. Using suction blisters, which create pure and reproducible epidermal wounds and leave the basal lamina intact (Ortonne, 1980; Dubertret, Lebreton & Touraine, 1982a, b), one may look more selectively at the epidermal events of skin cicatrization. Such experiments may be qualitative if histological procedures are used and quantitative if planimetric evaluations are performed after dermo-epidermal separation (Eaglstein & Mertz, 1978; Fourtanier et al.-, 1984). However, both procedures are invasive. The aim of our work was to develop a reproducible and non-invasive method allowing quantitative analysis of human epidermal healing. The method we propose is based on the repair of the epidermal barrier function after purely epidermal woimds (Saiag et al., in preparation). [ABSTRACT FROM AUTHOR]

Describes a method to improve the cytological and functional analysis of inflammatory skin diseases. Release of lysosomal enzymes from the inflammatory cells; Details on the morphological analysis of inflammatory skin disease; Measurement of the rate of macromolecular synthesis.

The monoclonal antibody OKT 6 reacts specifically with Langerhans' cells, but not with macrophages, in human skin. [ABSTRACT FROM AUTHOR]

The autonomic nervous system plays an important role in the generation of complex heart rate dynamics that enable an organism to adapt to stress. Little is known about genes influencing the development of this autonomic control of the heart. We suggest the SOX10 gene to be a candidate for this process. [ABSTRACT FROM AUTHOR]

Plasma exchange produced excellent control for four steroid-resistant cases of pemphigus, and appears to be useful therapy in severe forms of this disease. [ABSTRACT FROM AUTHOR]

Presents a letter to the editor related to a case of macular amyloidosis cutis.