Luteinizing hormone/human chorionic gonadotrophin receptors in various epidermal structures.

Two different monoclonal antibodies recognizing different epitopes were used to study the localization of luteinizing hormone/human chorionic gonadotrophin (LH/hCG) receptors in human skin. Immunolabelling was observed only in the epidermis and derived structures but not in the dermis. The basal, spinal and granular layers were stained, whereas no receptors were detected in the non-nucleated horny cells. In the growing (anagen) hair, immunostaining was found in the inner root sheath below the level of the sebaceous glands and in the outer root sheath above this level. In the resting (telogen) hair, only the latter staining was observed. In the sebaceous glands, only the thin cells close to the walls of the ducts were immunolabelled. In the eccrine sweat glands, the external clear cells were stained in the secretory portion of the gland, whereas only the cells close to the lumen were labelled in the ducts. The distribution of LH/hCG receptors was compared with that of steroidogenic enzymes (side chain cleavage cytochrome P450, adrenodoxin, 3-beta-hydroxy-5-ene steroid dehydrogenase Delta5-Delta4 isomerase, 17-hydroxylase cytochrome P450 and cytochrome P450 aromatase). Only partial overlaps were observed. The presence of LH receptor mRNA in the skin was confirmed by reverse transcription-polymerase chain reaction. Monoclonal antibodies raised against the human follicle-stimulating hormone receptor failed to detect the latter in the epidermal structures and in the dermis. The role of LH and hCG in skin modifications occurring during pregnancy and after the menopause is unknown. These hormones may possibly act by regulating steroidogenic enzymes or by modulating cell growth and differentiation.

[Pachydermoperiostosis with extramedullary hematopoiesis without myelofibrosis]. / Pachydermopériostose associée à un foyer d'hématopoïèse extra-médullaire sans myélofibrose.

BACKGROUND: In three previous reports of primary hypertrophic osteoarthropathy, an associated extramedullary hematopoiesis was related to myelofibrosis. CASE REPORT: A 44-year-old male patient with primary hypertrophic osteoarthropathy diagnosed when he was 34-year-old was referred to our hospital with an abdominal mass fortuitously detected. DISCUSSION: The present case is unique for the patient developed an extramedullary hematopoïesis without associated myelofibrosis. It suggests the possible intervention of growth factors common to the skin fibroblasts and the blood progenitor cells in the pathogenesis of primary osteoarthropathy.

Increased expression of gelatinases A and B by skin explants from patients with anetoderma.

The extent of alterations to the elastic fibre network in lesional skin areas of three patients with anetoderma was assessed by quantitative image analysis of tissue sections and compared with morphometric parameters from unaffected sites of the same individuals. In the anetodermic skins pre-elastic fibres were undetectable or extremely rare: the volume fraction (Vv%) occupied by these pre-elastic fibres was 0-0.3%, while in unaffected skins the Vv% occupied by pre-elastic fibres was 0.5-0.8%. A nearly complete absence of dermal elastic fibres in lesional skins from the three patients was evidenced (Vv% = 0.2-0.3%). Organ cultures were performed using explants from skin with or without anetodermic lesions to quantify the expressions of elastase-type proteinases. All tissues from anetodermic lesions expressed proforms of gelatinases A and B and the activated form of gelatinase A; their levels increased with the culture time. In comparison, enzymatic activities on oligopeptide substrates specific for leucocyte elastase and fibroblast plasma membrane-associated metalloelastase were not detected in the conditioned media of any explants at any time of culture from 1 to 5 days. Increased production of progelatinases A and B and activation of progelatinase A could be mainly responsible for the degradation of skin elastic fibres demonstrated in anetodermic skins.

IgA-epidermolysis bullosa acquisita in a child resulting in blindness.

Epidermolysis bullosa acquisita (EBA) is an acquired subepidermal bullous disease characterized by IgG autoantibodies directed against type VII collagen, the major component of anchoring fibrils. The classical phenotype of EBA is a non-inflammatory, mechanobullous disease resembling the dystrophic forms of inherited epidermolysis bullosa. Mucous membrane involvement is frequent but usually mild. We report a 1-year-old girl suffering from IgA-EBA, who presented with an initial eruption of disseminated urticarial lesions and tense blisters of the skin but subsequently developed severe oral and ocular lesions reminiscent of cicatricial pemphigoid. Direct immunofluorescence of the skin and buccal mucosa revealed linear IgA and C3 at the basement membrane zone (BMZ). IgA anti-BMZ autoantibodies stained the dermal side of salt-split skin by indirect immunofluorescence and recognized a dermal protein of 290 kDa co-migrating with type VII collagen by immunoblotting. Direct and indirect immunoelectron microscopy revealed IgA deposits overlying the anchoring fibrils. The ocular involvement led to total blindness in spite of intense treatment. This case of childhood IgA-EBA is particularly striking because of the cicatricial pemphigoid phenotype with severe ocular involvement which resulted in blindness. It reinforces the necessity to use modern immunological methods to classify autoimmune bullous diseases in order to allow early and appropriate treatment.

SAPHO syndrome and pyoderma gangrenosum: is it fortuitous?

Pyoderma gangrenosum is well known as an associated feature of inflammatory bowel disease (IBD). Recently, higher than normal prevalence of IBD in patients with the SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome has been reported. However, the association of pyoderma gangrenosum with SAPHO syndrome without definitely excluded IBD has not been reported. We describe a case that suggests a possible connection between these 2 entities.

[Involvement of the connective tissue of the eyelids in pachydermoperiostosis]. / Atteinte palpebro-conjonctivale de la pachydermoperiostose.

A 50-year old man presented with pachydermoperiostosis. Eyelid histopathology is described. Clinical features of this uncommon disorder are reported.

[Hypergammaglobulinemia D and familial urticaria in children]. / Hyper-immunoglobulinémie D et urticaire familiale de l'enfant.

OBJECTIVE: Recall the main elements suggesting the diagnosis of hyperimmunoglobulinemia D based on a family case of chronic urticaria. CASE REPORT: A boy and his mother presented the same signs of urticaria, fever and joint pain. Laboratory results showed an inflammatory syndrome in both. In the child, the first manifestations occurred during the age of one year. Hyperimmunoglobulinemia D was confirmed by persistently high serum levels. CONCLUSION: The diagnosis of hyperimmunoglobuliemia D can be entertained in a child in a family with chronic urticaria. Fever, joint pain, digestive disorders and enlarged lymph nodes are suggestive and the diagnosis is confirmed by a clear elevation of serum IgD.

Modification of lipogenesis in the isolated hamster flank organ through clofibric acid.

The hamster flank organ model was used to measure the effects of clofibric acid on the in vitro uptake of sodium [1-14C] acetate into lipids. Clofibric acid produces a dose-dependent inhibition of lipogenesis in the hamster flank organ in vitro.

[Angiokeratoma and fucosidosis. Immunohistochemical and ultrastructural study]. / Angiokératomes et fucosidose. Etude immunohistochimique et ultrastructurale.

INTRODUCTION: Angiokeratoma can lead to diagnoses other than Fabry's disease. We report a case of angiokeratoma in a child with fucosidosis. CASE REPORT: A 7-year-old child with psychomotor retardation presented angiokeratoma located on the penis. Uptake of type I Ulex Europaeus Agglutinin antilectin antiserum was intense in the endothelial structure. This antibody is specific for alpha-L-fucose residues which were thus found in large quantities in the vacuoles of the ultrastructure. The patient also had a major deficiency in leukocyte, serum and fibroblast alpha-fucosidase. COMMENTS: This is a typical case of fucosidosis, a rare hereditary disease with autosomal recessive transmission due to generalized deficiency in alpha-L-fucosidase. Diffuse angiokeratosis should suggest, other than Fabry's disease, fucosidase and other enzyme deficiencies including sialidase, GM1 gangliosidase as well as Kanzaki's disease.

[Madarosis and alopecia areata of eyelashes]. / Madarose et pelade des cils.

We presented the clinical features of a 9-year-old girl and a 52-year-old man with alopecia areata of eyelashes. Alopecia areata refers to the idiopathic lesions of the eyelashes and is generally classified as being partial, total or universal.

Structure of the human progesterone receptor gene.

The complete organization of the human progesterone receptor (hPR) gene has been determined. It spans over 90 kbp and contains eight exons. The first exon encodes the N-terminal part of the receptor. The DNA binding domain is encoded by two exons, each exon corresponding to one zinc finger. The steroid binding domain is encoded by five exons. The nucleotide sequence of 1144 bp of the 5' flanking region has been determined.

[Classification of urticaria and genetic angioedema]. / Classification des urticaires et angio-oedèmes génétiques.

Urticaria and genetic angioedema may be divided into three groups, according to their pathogenesis: anomaly of the complement system, physical origin or metabolic origin. Recent developments essentially concern hereditary angio-oedema, with location of the gene of the inhibitor of C1 esterase on chromosome 11 and the discovery of deletions or mutations of this gene in affected families.

Central nervous system lesions in hypomelanosis of Ito: an MRI and pathological study.

A severe form of hypomelanosis of Ito is reported, which presented as fetal macrocephaly and neonatal epileptic encephalopathy. Lymphocyte karyotypes were normal. MRI showed an absence of delineation between cortical grey matter and white matter. The prominent neuropathological finding was an abnormal cortical morphogenesis, with the co-existence of cells migrating normally and cells exhibiting arrêt en route or even the complete absence of migration. Intense astrocytic reaction with moderate dystrophic features was present. Juxtaposition of two migration behaviours in the neural cells paralleled the cutaneous findings and reinforced the hypothesis of a genetic chimerism.