[Pseudoxanthoma elasticum-like papillary dermal elastolysis: A case report]. / Élastolyse du derme papillaire « pseudoxanthome élastique-like ¼ : un cas.

BACKGROUND: Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare disease clinically resembling pseudoxanthoma elasticum (PXE). Herein we report a typical case. PATIENTS AND METHODS: A 77-year-old woman consulted for an acquired papular eruption present for 4 years. Her history included breast cancer, which was considered to be in remission. The eruption had begun on the right armpit before extending to the right side of the chest, left armpit, neck and right inguinal fold. It was completely asymptomatic. It consisted of non-follicular flabby, skin-colored papules, without anetoderma. Histological examination with hematoxylin-eosin and orcein staining revealed papillary and mid-dermal elastolysis without elastorrhexis. Based on the clinical aspect of PXE as well as histologically demonstrated elastolysis, a diagnosis of PXE-PDE was made. DISCUSSION: PXE-PDE is a rare acquired entity that affects only women, usually after the age of 60 years. Although it is clinically similar to PXE, PXE-PDE may be differentiated through its late onset, the absence of systemic symptoms, and the attendant histological features. Dermoscopy may also contribute to differential diagnosis. Histological examination allows confirmation of the diagnosis and shows normal elastic fibers that may be either missing or present in vastly reduced quantities in the papillary and mid-dermis. The physiopathology continues to be unclear, but may involve skin aging, elastogenesis abnormalities and UV exposure. To date, no treatment has demonstrated its efficiency. CONCLUSION: PXE-PDE is a rare condition, but it displays typical histological and clinical features. Knowledge of this entity avoids unnecessary explorations and enables rapid reassurance of patients.

[Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene]. / Épidermolyse bulleuse héréditaire dystrophique par hétérozygotie composite COL7A1.

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis characterized by various abnormalities of anchoring fibrils, composed mainly of type VII collagen, at the dermal-epidermal junction. These changes are induced by mutations in the type VII collagen gene (COL7A1). PATIENTS AND METHODS: A new-born boy was diagnosed with recessive DEB on the basis of typical skin lesions composed of multiple blisters with erosions on trauma-exposed body sites, including the hands and feet and the navel. Diagnosis was confirmed by pathology examination and irregular immunofluorescence staining of type VII collagen. Genomic DNA from the patient and parents were subjected to direct sequencing for the COL7A1 gene. Two heterozygous mutations were detected in the affected child. Each parent was a carrier of one heterozygous mutation. DISCUSSION: Over 730 mutations of the COL7A1 gene have been identified as responsible for phenotypic polymorphism of EBD. The relatively mild phenotype seen in our patient, known as "non-Hallopeau-Siemens" or "mitis" EBD, is due to residual synthesis of collagen VII. The mutation present on the maternal allele that prevents synthesis of collagen VII is compensated by the mutation on the paternal allele, which enables more or less functional collagen VII synthesis.

[Neurotrophic ulceration following thermocoagulation of the Gasserian ganglion]. / Ulcération neurotrophique après thermocoagulation du ganglion de Gasser.

INTRODUCTION: Neurotrophic ulceration (NTU) in the trigeminal nerve sensitive area is rare. It may be caused by a lesion anywhere on the trigeminal nerve's trajectory. The diagnosis is usually clinical, but other diagnoses, particularly neoplastic, must be ruled out first. The physiopathology and treatment of NTU remain controversial. We report a severe case of NTU and describe the main features of this poorly documented disease. OBSERVATION: A 67-year-old female patient consulted in the dermatology department for a progressive ulceration of the nose ala and the right upper lip, having developed over the two previous years. She had undergone two thermocoagulations of the right Gasserian ganglion for facial neuralgia 3 years before. The diagnosis of NTU, initially ruled out because of biopsies suggesting verrucous carcinoma, was finally retained because of the clinical presentation and anamnesis. Treatment consisted in surgical excision and primary reconstruction using a forehead flap. The diagnosis was confirmed after histopathological examination of the surgical specimen. A recurrence was noted 2 years postoperatively, then the patient was lost to follow-up. DISCUSSION: The physiopathology of NTUs is badly documented. The cutaneous ulcerations look like facial neoplasms but the clinical findings (unilateral and paranasal location; lesion of the trigeminal nerve; local trauma; psychological instability) suggest neurotrophic ulceration. The histopathological examination, sometimes difficult, reveals non-specific chronic inflammatory ulceration. There is no consensus on treatment. The psychological profile may be a risk factor for recurrences and must be taken into account.

Sequential taxane and anthracycline-containing neoadjuvant regimens: the sequential order impact.

BACKGROUND: One can consider as a standard neoadjuvant treatment for breast cancer, the sequence of 4 cycles of anthracycline-based chemotherapy followed by 4 cycles of docetaxel. Based on the belief that the sequence order between anthracycline and taxane might be of interest, this study assessed the impact of the sequence order. METHODS: One hundred and twenty three patients with breast cancer were treated with neoadjuvant chemotherapy in 5 oncologic centers between 2003 and 2007. This study compared 65 patients treated with 4 cycles of docetaxel followed by 4 cycles of anthracycline-based chemotherapy (cohort T), versus another cohort of 58 patients treated with 4 cycles of anthracycline-based chemotherapy followed by 4 cycles of docetaxel (cohort A). RESULTS: The overall dose intensity of docetaxel and clinical complete responses were significantly higher in cohort T. No statistically significant differences were observed in terms of conservative surgeries or histological responses. The sequence of chemotherapy did not significantly influence other treatment-related toxicities. Mild neurotoxicity was higher in patients treated in cohort T. Anemias (≥Grade 1) were higher in cohort A (52% versus 81%; p = 0.0008). CONCLUSION: The present study failed to identify an impact of the sequence of taxane administration on the efficacy. Nevertheless, starting neoadjuvant chemotherapy by taxane reduces the occurrence of anemia. These findings might allow a selection of the sequence order based on the toxicity profile.

[Acinic cell carcinoma in an ectopic salivary gland]. / Carcinome à cellules acineuses d'une glande salivaire ectopique.

On the occasion of the coverage of a cervical tumefaction in a child, which led to the diagnosis of acinic cell carcinoma of ectopic salivary gland, the authors conducted a literature review of this tumour. If it is well known to pathologists when it is developed in the major or accessories salivary glands, its location within heterotopy of salivary tissue is much rarer. From a histological point of view it is difficult to distinguish, if primitive location, the occurrence of the tumour in an ectopic salivary gland, its occurrence in intra-node heterotopic salivary tissue. This distinction between glandular ectopia and intra-node heterotopia remains purely theoretical, and does not affect the therapeutic decision. This one remains empirical and discussed on a case-by-case basis for a malignant tumour that is exceptional in this location and at that age.

[Familial infantile myofibromatosis]. / Myofibromatose infantile familiale.

BACKGROUND: Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and childhood. It is characterized by congenital tumours of the skin, striated muscle, bones and viscera. Most cases are sporadic and few familial cases have been reported. PATIENTS AND METHODS: We describe a 5-month-old girl presenting with two congenital nodules. The diagnosis of infantile myofibromatosis was based on clinical and histopathological examination. Surgical excision was performed and there was no relapse at six years. The patient's brother presented multiple nodules and toe necrosis at birth due to infantile myofibromatosis. Two months later, the congenital nodules increased in size and new nodules developed. Surgical excision was performed. At 11 months of age, the boy presented with cranial relapse and bone resorption at P3 of the third right toe. The clinical and radiological investigations were normal. DISCUSSION: Three clinical forms of IM have been described: solitary cutaneous nodules, multiple cutaneous nodules and generalized MI with visceral involvement. The prognosis is good except in generalized MI. All familial cases of MI may be interpreted as autosomal dominant or alternatively there may be genetic heterogeneity. Strict follow-up is recommended to identify potentially life-threatening complications. Spontaneous regression usually occurs but in some cases the treatment of choice is surgical removal.

Dermatofibrosarcoma protuberans: a population-based cancer registry descriptive study of 66 consecutive cases diagnosed between 1982 and 2002.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare malignant tumour of the skin, with an estimated incidence of 0.8 to five cases per 1 million people per year. OBJECTIVE: To study epidemiological, immunohistochemical and clinical features, delay in diagnosis, type of treatment and outcome of DFSP from 1982 to 2002. METHODS: Using data from the population-based cancer registry, 66 patients with pathologically proved DFSP were included (fibrosarcomatous DFSP were excluded). Each patient lived in one of the four departments of Franche-Comté (overall population of 1 million people) at the time of diagnosis. The main data sources came from public and private pathology laboratories and medical records. The rules of the International Agency for Research on Cancer were applied. RESULTS: The estimated incidence of DFSP in Franche-Comté was about three new cases per 1 million people per year. Male patients were affected 1.2 times as often as female patients were. The trunk (45%) followed by the proximal extremities (38%) were the most frequent locations. DFSP occurred mainly in young adults between 20 and 39 years of age. Mean age at diagnosis was 43 years, and the mean delay in diagnosis was 10.08 years. Our 66 patients initially underwent a radical local excision. Among them, 27% experienced one or more local recurrences during 9.6 years of follow-up. There was one regional lymph node recurrence without visceral metastases. These recurrences were significantly related to the initial peripheral resection margins. We observed a local recurrence rate of 47% for margins less than 3 cm, vs. only 7% for margins ranging from 3 to 5 cm [P=0.004; OR=0.229 (95%, CI=0.103-0.510)]. The mean time to a first local recurrence was 2.65 years. Nevertheless, there was no death due to the DFSP course at the end of the follow-up, and the final outcome was favourable. CONCLUSION: Our study emphasizes the importance of wide local excision with margins of at least 3 cm in order to prevent local recurrence. However, the recent development of inhibitors of signal transduction by the PDGFB pathway should soon modify the surgical strategy, which is often too mutilating.

[Ganglioneuroma revealed by complicated nephritic colic]. / Ganglioneurome rétropéritonéal révélé par une colique néphrétique compliquée.

INTRODUCTION: Ganglioneuroma is a rare benign nervous tumour frequently located in the retroperitoneal area. We report the case of a 22-year-old female patient where this tumour was revealed by nephritic colic complicated by pyelitis and kidney abscess. EXEGESIS: The patient presented with brutal feverish lumbar pains and urinary signs. Abundant iconography, in particular contrasted enhanced sonography, allowed to show a massive retroperitoneal lump and a puncture-biopsy indicated a ganglioneuroma which was surgically removed by laparotomy. Signs may be varied and misleading. Biological and radiological exams are useful for the diagnosis which can only be confirmed by the thorough histological examination of the removed sample. CONCLUSION: A large retroperitoneal lump without alteration of the patient's health should point to this diagnosis, since the complete surgical removal leads to recovery without recurrence, but all the other differential diagnoses must first be dismissed.

[Merkel cell carcinoma: descriptive study of 24 cases (1993-2001)]. / Carcinome à cellules de Merkel: étude descriptive de 24 cas (1993-2001).

INTRODUCTION: Merkel cell carcinoma (MCC) is a rare skin tumor with a highly malignant nature whose appropriate treatment is still debated. Wide surgery is the treatment of choice, but the question concerning protocols for adjuvant radiotherapy or chemotherapy remains open. PATIENTS AND METHODS: A retrospective analysis of 24 cases of MCC collected over a period of 9 years was performed, focusing on clinical and histologic features, and response to treatment. RESULTS: There were 17 women and 7 men with a mean age of 74.3 years. The median follow up was 34 months. The annual incidence per 100,000 habitants was 0.378. The head and neck localization was predominant (54%). Fifteen (68%) of patients presented with local disease (stage I), and 32% of patients presented with regional node (stage II) or distant metastases (stage III). Patients with stage I had a 5-years overall survival rate of 73,85%. Among them, five patients (33%) developed a local or nodal recurrence, although two patients were initially treated with surgery and local post-operative radiotherapy. Patients with stage II and III demonstrated a 5-year overall survival rate of 51,43%. DISCUSSION: Our series illustrates the clinical characteristics of this tumor of the elderly, which is mainly located on head and neck and associated with a poor prognosis. Treatments are discussed.

[Small intestinal stromal tumors with skenoid fibers. Clinicopathological study of three cases]. / Trois observations de tumeurs stromales de l'intestin grêle à fibres en écheveau.

Gastrointestinal stromal tumours (Gist) are mesenchymal tumour with uncertain prognosis occurring in the gastrointestinal tract wall. For clinicians, these tumours raise two problems: to establish the diagnosis and to determinate the future behaviour for the choice officient therapeutics. For the diagnosis the new marker c-KIT is useful. A new treatment with an inhibitor of c-KIT has given encouraging results. currently there is no consensus on specific cut-points to distinguish as low or high risk (i.e., malignant) Gist. For metastases-free Gist, the prominent histopronostic markers are size, mitotic index and localization of the tumour. The small intestine Gist have the reputation to be more aggressive than in other localization. Skenoid fibers in small intestine Gist could be a marker of good prognostic. The authors reported three cases of small intestine Gist with skenoid fibers. The discussion point out the significance of this particular morphological aspect.

Detection of the human papillomavirus and analysis of the TP53 polymorphism of exon 4 at codon 72 in penile squamous cell carcinomas.

Human papillomaviruses (HPV) are thought to be involved in penile squamous cell carcinomas (SCC). A common polymorphism at codon 72 of exon 4 encoding either arginine (Arg) or proline (Pro) has been shown to affect HPV-mediated degradation of p53 in vitro, and may represent a risk factor for HPV-induced carcinogenesis. The presence of HPV DNA as well as the TP53 polymorphism at codon 72 of exon 4 were investigated in a series of 45 penile SCC. HPV detection and typing were carried out by polymerase chain reaction (PCR) with generic primers (MY09-MY11 and FAP59-FAP64), and type-specific DNA probes. TP53 polymorphism was further investigated using Denaturing Gradient Gel Electrophoresis (DGGE). HPV DNA was detected in 67% of penile SCC and 32% of benign lesions (BL) (P<0.05). Among the TP53 amplified samples, the rate of Arg homozygosity in penile SCC was 61% compared with 68% in BL (non-significant (NS)). Our results demonstrate a strong association between penile SCC and the presence of HPV DNA. The TP53 Arg/Arg genotype does not appear to represent a risk factor for the development of genital SCC in men, and no correlation was found between the TP53 polymorphism at codon 72 and the presence of HPV DNA.

Intracerebral alveolar echinococcosis.

There are two species of the genus Echinococcus, Echinococcus multilocularis (also called alveolar hydatid) and Echinococcus granulosus, characterized by distinct growth features in humans. The main endemic regions for human alveolar echinococcosis (AE) caused by E. multilocularis are Central Europe, Russia, Turkey, Japan, China, eastern France and North America. Human echinococcosis is usually caused by an intrahepatic growth of parasitic larvae. Cerebral occurrence of E. multilocularis disease is rare, accounting for only 1% of cases, and is generally considered to be fatal. This report presents two cases of intracerebral E. multilocularis disease which occurred in two infected patients with AE pulmonary metastases. The anatomical and clinical features are discussed. Our retrospective survey would indicate that surgical treatment should be envisaged whenever possible.

[Multiple familial cutaneous leiomyoma]. / Léiomyomes cutanés multiples familiaux.

INTRODUCTION: Cutaneous leiomyoma is a benign tumor, the discovery of which may suggest a hereditary form. We report a family in which 5 generations developed cutaneous and uterine leiomyomas. The originality of this report lies in the large number of generations developing the disease and the association with chronic myeloid leukemia. OBSERVATIONS: We have studied 16 members of a family with cutaneous and uterine leiomyomas spanning five generations. Eight members of the family (6 women and 2 men) presented with cutaneous leiomyomas. All 6 women also had uterine myomas with complications (menometrorrhagia, miscarriage, premature delivery and hysterectomy). Pathological association was also confirmed: polycythemia (1 case), papillary renal carcinoma (1 case) and chronic myeloid leukemia (1 case). DISCUSSION: Piloleiomyoma can develop sporadically or can be transmitted genetically. To our knowledge, we report the fifth case of a family of more than 2 generations presenting with piloleiomyoma. By studying the family tree, we were able to confirm the dominant autosomal nature of the mode of transmission found by other authors. The association of piloleiomyoma and uterine myoma is classified as Reed's syndrome. In such cases, the uterine myoma requires particularly careful monitoring since it is associated with significant risk of gynecological complications (menometrorrhagia, miscarriage, premature delivery and postpartum hemorrhage). Moreover, in our observations we describe diseases associated with piloleiomyoma: polycythemia (1 case), papillary renal carcinoma (1 case), but also the association of piloleiomyoma with chronic myeloid leukemia (1 case). A previous report described the same genetic deletion in uterine myoma as in chronic myeloid leukemia, which gives further weight to this association.

Variants of renal angiomyolipoma closely simulating renal cell carcinoma: difficulties in the histological diagnosis.

Renal angiomyolipoma is considered to be a benign renal tumor composed of atypical blood vessels, smooth muscles and fat cells. We report 2 cases of unilateral renal angiomyolipoma. In both cases, our preoperative diagnosis was renal cell carcinoma, because no low density area compatible with fat tissue was noted in the tumors on radiographic evaluation. Through histological examination, both tumors proved to be angiomyolipomas mainly composed of epithelioid cells in 1 case, and spindle-shaped smooth muscle cells mimicking a leiomyoma in the other case. Both patients are well showing no evidence of metastases 16 and 14 months after nephrectomy, respectively.

[Liveoid vasculopathy with combined thrombophilia: efficacy of iloprost]. / Vasculopathie livédoïde et thrombophilie combinée: efficacité de l'iloprost.

INTRODUCTION: Livedoid vasculopathy is characterized by early, focal painful purpuric lesions of the lower skin extremities without histologic finding of small vessel vasculitis. EXEGESIS: A 38-year-old man was seen in our unit for painful purpuric lesions of both feet localized on toes and external sides. Skin biopsy showed dermic vessel thrombosis and endothelial cell proliferation. Lupus anticogulant antibody was positive in association with a heterozygous factor V (Leiden) gene mutation (G1691A). Anticoagulation failed to relieve pain and cutaneous lesions. Intravenous iloprost, a prostacylcin analogous (Ilomedine) was dramatically and rapidly effective in our patient. CONCLUSION: Livedoid vasculopathy is a cutaneous affection related to vascular thrombotic events in which thrombophilia plays a central role. Iloprost might be an interesting alternative treatment of painful purpuric lesions when anticoagulant treatments are ineffective.

Relevance of p185 HER-2/neu oncoprotein quantification in human primary breast carcinoma.

The c-erbB-2 proto-oncogene encodes a transmembrane protein tyrosine kinase receptor of 185 kDa (p185) and has been associated with several types of human cancers. In human breast cancer, overexpression of p185 occurs in 15-30% of cases, correlates with poor prognostic factors and characterizes breast cancers with a more aggressive behavior. Overexpression of p185 is usually associated with c-erbB-2 amplification, though it may occur independently and thus define subpopulations of breast cancers which might be of clinical interest. p185 expression is usually detected by immunohistochemistry (IHC) and few studies have been carried out to evaluate the p185 content of breast cancers with an ELISA technique. In this context, we showed, in 106 breast cancer samples, that p185 was expressed at high levels in 13.2%, intermediate levels in 55.7% and negative ones in 31.1% of cases. All p185 positive samples showed a c-erbB-2 oncogene amplification while none of the p185 negative samples and only 4% of p185 imtermediate samples had an amplification of c-erbB-2. p185 expression is significantly correlated with the negativity of estrogen and progestrone receptors, with high levels of cathepsin D and in some conditions with axillary nodal involvement. Thus, using the p185 ELISA assay, the c-erbB-2 status of breast cancers can be defined and moreover a subset can be discriminated which is characterized by intermediate levels of p185 and absence of c-erbB-2 amplification. The quantitative approach towards p185 in breast cancers affords the possibility of identifying more appropriately patients with high or low risk and thus permits adaptation of therapeutic regimens.