[Sclerodermatous changes revealing porphyria cutanea tarda]. / État scléreux révélant une porphyrie cutanée tardive.

BACKGROUND: Porphyria cutanea tarda (PCT) is associated with cutaneous accumulation of porphyrins. This accumulation results from a deficiency of uroporphyrinogen decarboxylase occurring only in the liver. The classical presentation is blistering on sun-exposed areas. PATIENTS AND METHODS: A 59-year-old woman presented at the dermatology consultation for sclerotic lesions that had been present for one year. The remainder of the clinical examination and further investigations did not indicate systemic scleroderma. The sun-exposed nature of the lesions led us to perform an assay of urinary porphyrin, which was found to be elevated. Uroporphyrinogen decarboxylase levels were normal, confirming the diagnosis of type 1 PCT. Screening for a hepatic etiology revealed a heterozygous mutation H63D/C282Y of the hemochromatosis gene responsible for this clinical picture. The patient underwent regular bleeding, which led to complete disappearance of cutaneous sclerosis. DISCUSSION: Sclerodermatous lesions are an unusual presentation of PCT and cause delays in diagnosis. The accumulation of uroporphyrins in the dermis stimulates fibroblasts, which then synthesize collagen, resulting in cutaneous sclerosis.

Semiautomated quantitative image analysis of glomerular immunohistochemistry markers desmin, vimentin, podocin, synaptopodin and WT-1 in acute and chronic rat kidney disease models.

Five different glomerular immunohistochemistry markers were evaluated and compared in four different acute and chronic rat kidney disease models. Progression of glomerular or podocyte damage was shown in the puromycin aminonucleoside nephrosis (PAN) and Zucker fatty/spontaneously hypertensive heart failure F1 hybrid (ZSF1) rat model. Progression and prevention of glomerular damage was demonstrated in the Zucker diabetic fatty (ZDF) and Dahl salt-sensitive (Dahl SS) rat. Immunohistochemistry was performed for desmin, vimentin, podocin, synaptopodin and Wilms tumor protein-1 (WT-1), and evaluation of glomerular immunohistochemistry markers was done by semiautomated quantitative image analysis. We found desmin and WT-1 as the most sensitive markers for podocyte damage in both acute and chronic glomerular damage followed by vimentin, podocin and synaptopodin. We were able to demonstrate that early podocyte damage as shown by increased desmin and vimentin staining together with either a phenotypic podocyte change or podocyte loss (reduced numbers of WT-1-stained podocytes) drives the progression of glomerular damage. This is followed by a reduction in podocyte-specific proteins such as podocin and synaptopodin. Our report describes the different sensitivity of glomerular or podocyte markers and gives future guidance for the selection of the most sensitive markers for efficacy testing of new drugs as well as for the selection of tissue-based toxicity markers for glomerular or podocyte injury. In addition to functional clinical chemistry markers, desmin and WT-1 immunohistochemistry offers reliable and valuable data on the morphologic state of podocytes.

Prognostic value of antibodies to Merkel cell polyomavirus T antigens and VP1 protein in patients with Merkel cell carcinoma.

BACKGROUND: Merkel cell polyomavirus (MCPyV) is the main aetiological agent of Merkel cell carcinoma (MCC). Serum antibodies against the major MCPyV capsid protein (VP1) are detected in the general population, whereas antibodies against MCPyV oncoproteins (T antigens) have been reported specifically in patients with MCC. OBJECTIVES: The primary aim was to assess whether detection of serum antibodies against MCPyV proteins at baseline was associated with disease outcome in patients with MCC. The secondary aim was to establish whether evolution of these antibodies during follow-up was associated with the course of the disease. METHODS: Serum T-antigen and VP1 antibodies were assessed by enzyme-linked immunosorbent assay using recombinant proteins in a cohort of 143 patients with MCC, including 84 patients with serum samples available at baseline. RESULTS: Low titres of VP1 antibodies at baseline (< 10 000) were significantly and independently associated with increased risk of recurrence [hazard ratio (HR) 2·71, 95% confidence interval (CI) 1·13-6·53, P = 0·026] and death (HR 3·74, 95% CI 1·53-9·18, P = 0·004), whereas T-antigen antibodies were not found to be associated with outcome. VP1 antibodies did not differ between patients in remission and those with recurrence or progression during follow-up. However, T-antigen antibodies were more frequently detected in patients with recurrence or progression at 12 months (P = 0·020) and 24 months (P = 0·016) after diagnosis. CONCLUSIONS: VP1 antibodies constitute a prognostic marker at baseline, whereas T-antigen antibodies constitute a marker of disease recurrence or progression if detected > 12 months after diagnosis.

[Dermato-neuro syndrome during scleromyxedema: efficacy of plasmapheresis and intravenous immunoglobulin]. / Dermatoneuro syndrome au cours d'un scléromyxœdème: efficacité des plasmaphérèses et des immunoglobulines intraveineuses.

BACKGROUND: Dermato-neuro syndrome is a specific neurological complication of scleromyxedema presenting with fever, coma, seizures and flu-like syndrome. To our knowledge, it has only been reported about twenty times in the literature. Its outcome is uncertain. We describe the case of a patient in whom a favorable outcome was achieved using a combination of plasmapheresis and intravenous immunoglobulin (IVIG). PATIENTS AND METHODS: A 57-year-old woman was diagnosed 14 years ago with scleromyxedema resistant to multiple lines of treatment. In November 2011, she presented an initial episode of epileptic seizure followed by post-seizure coma, and later, confusional state with visual hallucinations. She recovered spontaneously within a few days. CT scan, MRI, EEG and screening for infection were perfectly normal, resulting in suspicion of neurological involvement associated with her scleromyxedema. In December 2012 and August 2013, she presented two further episodes of status epilepticus, followed once more by a confusional state, with etiological explorations again proving unfruitful. On this occasion, her confusional state persisted for two months until the initiation of plasmapheresis and IVIG. This combination therapy led to rapid regression of all neurological symptoms and an improvement in her general condition. DISCUSSION: The dermato-neuro syndrome is a rare neurological complication of scleromyxedema. Its pathophysiology is unknown. The monoclonal gammopathy induced by the scleromyxedema could account for the patient's hypercoagulable state and for the formation of neutrophilic aggregates leading to impaired microcirculation. Treatment is empirical and poorly codified. The course of the disease is unpredictable and may be lethal.

[Evaluation of hypnosis in pain management during photodynamic therapy: a pilot study]. / Évaluation de l'hypnose à visée antalgique dans la photothérapie dynamique : étude pilote.

BACKGROUND: Pain is the main adverse effect of photodynamic therapy (PDT) and few effective analgesic methods are currently available. Our aim was to evaluate the efficacy of hypnoanalgesia with the use of PDT. PATIENTS AND METHODS: Between August 2011 and February 2013, a hypnoanalgesia session was proposed to patients requiring PTD for the treatment of (pre)carcinomatous lesions. At the end of the hypnosis session, patients evaluated their pain on a numeric pain scale (NPS) of 0 to 10. RESULTS: Twelve patients of average age 74.6 years were included. The indication for PDT was actinic keratosis (AK) in 9 patients, 1 Bowen's disease of the penis, 1 mammary Paget's disease and 1 bowenoid papulosis of the penis. Hypnoanalgesia was effective in 8 patients with a mean pain evaluation score of 2.9/10 on the NPS. Six of these 8 patients had previously undergone treatment by PDT without hypnosis and with an average pain score of 8.3/10. DISCUSSION: Hypnoanalgesia appears to be of value for pain management with PTD. This method is simple, inexpensive and devoid of side effects, and it is active on both pain and anxiety. To improve the use of hypnoanalgesia in PDT, it would be necessary to have better knowledge of the predictive factors for pain in PDT, to determine how to best select patients "sensitive" to hypnosis, and to encourage the training of nurses and doctors in this method.

[Gorlin syndrome: photodynamic therapy, as a useful adjunct to surgery]. / Syndrome de Gorlin : la photothérapie dynamique, technique complémentaire du traitement chirurgical.

Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is well known by dermatologists. Since its onset, 10 years ago, photodynamic therapy has found new applications and is now currently used to cure single or multiple basal cell carcinomas, with good results and without residual scars. We recall some of the basic principles of this technique, as well as its indications in Gorlin syndrome, which we illustrate with one case. Plastic surgeons must consider this relatively new technique, developed by dermatologists, as a useful adjunct to surgery in the management of Gorlin syndrome.

[Two cases of baboon-like exanthema in primary parvovirus B19 infection]. / Exanthème à type de « syndrome babouin ¼ au cours d'une primo-infection par le parvovirus B19 : deux cas.

INTRODUCTION: Primary parvovirus B19 infection may present a wide variety of dermatological features. We report two cases of parvovirus infection presenting as flexural erythema of baboon syndrome induced by various drugs, but associated with purpuric or oedematous features. CASE REPORTS: A pregnant 23-year-old woman at 39 weeks of amenorrhoea and a 49-year-old woman consulted for flexural eruption in a setting of fever. In both cases, clinical examination revealed erythematosus rash in the major skin folds, with vesicles and elements of purpura in the former patient and bullous oedema in the latter. In both cases, the diagnosis of primary parvovirus B19 infection was confirmed by positive PCR screening of viral genome and by seroconversion after two weeks. The skin lesions regressed spontaneously within several days. DISCUSSION: Although initially linked solely with systemic drug toxicity, baboon syndrome has since been reported in connection with other allergens (drug reactions, contact dermatitis, viral and streptococcal infection). Among these causes, parvovirus B19 infection merits particular interest.

[Iatrogenic cutaneous emphysema]. / Emphysème cutané iatrogène.

BACKGROUND: Tracheal perforation following orotracheal intubation is a rare but classic complication of general anaesthesia, and marked cutaneous emphysema can occur. We report a rare case of facial cutaneous emphysema revealed by swelling with pseudovesicles on the eyelids. CASE REPORT: A 99-year-old woman developed extensive facial swelling with pseudo-vesicles on the upper and lower eyelids following right hip replacement surgery. Swelling of the upper members and thoracic area was also seen. Chest X-rays showed marked cutaneous emphysema of the thoracic wall. Bronchial endoscopy revealed perforation of the posterior aspect of the trachea. The patient was presenting cutaneous emphysema as a result of post-intubation tracheal perforation. DISCUSSION: We report a rare case of cutaneous emphysema in a 99-year-old woman after tracheal perforation following orotracheal intubation. The significant feature of our case report is the actual manifestation of the condition. Our patient developed swelling of the eyelid with pseudovesicles. When confronted with sudden onset of pseudovesicles of the eyelids after surgery, dermatologists must not misdiagnose cutaneous emphysema and must examine their patient carefully for other clinical signs. Bronchial endoscopy should be undertaken immediately to investigate for tracheal perforation.

[Infiltrative basal cell carcinoma presenting as chronic leg ulcer]. / Carcinome basocellulaire infiltrant se présentant comme un ulcère de jambe chronique.

BACKGROUND: Basal cell carcinoma is the most common carcinoma of the skin and is usually found on the head and neck. We report an unusual case of basal cell carcinoma presenting as a chronic leg ulcer, with underlying bone involvement. CASE REPORT: A 70-year-old woman presented with a 15-year history of leg ulcer refractory to treatment. Because of the exuberant granulation tissue on the base and the indurated edges of this circumferential leg ulcer, several biopsies were taken from the edge and the base of the ulcer. Histological examination revealed infiltrative basal cell carcinoma. Treatment consisted of surgical excision of 80% of the primary lesion and coverage with a split-thickness skin graft. Examination of the surgical piece revealed invasion of bone by the carcinoma. The remainder of the lesion not accessible to surgery was irradiated. DISCUSSION: There is a need for awareness among all doctors of the clinical signs evocative of malignant transformation of a leg ulcer so that a skin biopsy may be performed for suspicious ulcers. Our case is distinguished by the underlying invasion of bone by basal cell carcinoma, as attested by imaging and histology.

[Recurring pyoderma gangrenosum in pregnancy]. / Pyoderma gangrenosum récidivant lors des grossesses.

BACKGROUND: We report the case of a 25-year-old patient developing pyoderma gangrenosum (PG) during the third trimester of her first and second pregnancies. CASE REPORT: A 25-year-old woman developed PG on her left calf during week 32 of her second pregnancy; previously, during week 36 of her first pregnancy, the patient had presented abdominal pain with inflammatory syndrome. She underwent caesarean delivery at week 37 of pregnancy. Surgery was complicated by aseptic abdominal and parietal abscesses as well as aseptic endometritis with neutrophil infiltrate. She underwent two further surgical interventions that were followed by skin manifestations typical of PG. The two newborns were otherwise healthy. After five years of follow-up, we found no disorders usually associated with neutrophilic dermatosis. DISCUSSION: Pyoderma gangrenosum is extremely rare in pregnancy, with only 16 cases being reported in the international literature: nine during pregnancy and seven post-partum. The question is thus raised of a possible relationship between this neutrophilic dermatosis and pregnancy. The association could be due to the pathergy phenomenon or to the increase in G-CSF levels occurring in pregnant women.