Olfa Khayat

La mucormycose rhinocérébrale chez le diabétique : À propos de quatre observations

UNLABELLED Mucormycosis is caused by a zygomycetes fungus in a vascular location. This fungus is a saprophytic organism which can become pathogenic in specific conditions, particularly in patients with diabetes mellitus. A rhinocerebral localization is common, leading to often fatal devastating sinusitis. Positive diagnosis requires histological proof with characteristic hyphal tissue invasion. Frozen section is essential for diagnosis and management of rhinocerebral mucormycosis. MATERIAL AND METHODS We report four cases of rhinocerebral mucormycosis in diabetic patients, two men and two women, mean age 51 years. RESULTS Histological examination showed characteristic hyphae in a vascular localization. Treatment was systemic antifungal therapy with amphotericin B and debridement of necrotic tissue. Three patients recovered completely. One died. CONCLUSION Rhinocerebral mucormycosis is a rare fungal infection with very poor prognosis. The aim of this study was to report the clinical and pathological features of rhinocerebral mucormycosis and to evaluate the contribution of frozen section for diagnosis and management.

Hémangioendothéliome épithélioïde cutané

Resume Introduction L’hemangioendotheliome epithelioide est une tumeur des tissus mous prenant naissance a partir de l’endothelium vasculaire. Elle est consideree comme une tumeur de bas grade de malignite. La localisation a la peau est tres rare et fait souvent partie d’une atteinte multisystemique. Observation Une femme de 34 ans, consultait pour un nodule cutane erythemato-violace, douloureux, siegeant a l’avant-bras droit et evoluant depuis 6 mois. Une echographie abdominale avait ete pratiquee 1 mois avant l’apparition du nodule cutane, du fait de douleurs epigastriques et etait normale. Les examens histologiques et immunohistochimiques cutanes permettaient de poser le diagnostic d’hemangioendotheliome epithelioide. Le bilan d’extension, comprenant des examens radiologiques, echographiques, un scanner thoraco-abdominal et une imagerie par resonance magnetique, revelait la presence de nodules hepatiques. Le traitement consistait en une exerese large et complete de la tumeur. Apres un an d’evolution, aucune recidive locale n’etait observee et les localisations hepatiques etaient stables. Discussion L’hemangioendotheliome epithelioide appartient au groupe des tumeurs vasculaires epithelioides ayant en commun un aspect morphologique epithelioide des cellules tumorales endotheliales. La localisation a la peau est rare et a notre connaissance, seulement 20 cas d’hemangioendotheliome epithelioide avec atteinte cutanee ont ete rapportes dans la litterature. L’hemangioendotheliome epithelioide cutane peut rester isole ou rentrer dans le cadre d’une maladie multifocale avec des atteintes viscerales associees. Ainsi, la decouverte de lesions cutanees impose la pratique d’un bilan d’extension a la recherche de localisations profondes. L’hemangioendotheliome epithelioide etant considere comme une tumeur de bas grade de malignite, l’integrite du foie chez cette malade, observee un mois avant l’apparition de la maladie, est en faveur d’une maladie multicentrique plutot que de localisations metastatiques hepatiques d’une tumeur cutanee primitive.

Adenomatous transformation in hamartomatous polyps cases of two patients with Peutz–Jeghers Syndrome

Dear Editor: Peutz–Jeghers syndrome (PJS) is an inherited syndrome with autosomal dominant trait. It is characterised by mucocutaneous melanin spotty pigmentation on the lips, buccal mucosa and digits, associated with hamartomatous polyps within the digestive tract, preferentially affecting the small intestine. Peutz–Jeghers polyps were considered to be a benign lesion without any malignant potential. However, it has been recently reported that more than 10% of patients with PJS were found to develop at a subsequent stage, by means of long follow-up studies, gastrointestinal cancer. To further an understanding of the relationship between hamartomatous polyps and neoplasms, we report two unusual cases supporting the adenomatous transformation in hamartomatous polyps. Our first patient was a 14-year-old boy, admitted in 2001 for acute abdominal pain and vomiting related to a subocclusive syndrome. He reported a 2-year history of watery diarrhoea, associated with an intermittent abdominal pain. On physical examination, the patient was pale with small and spotty pigmented lesions on the lips, cheekbones and cheek mucosa. We found bilateral gynecomasty. Abdominal palpation discovered a painful and bloated abdomen. Rectal examination revealed neither bleeding nor mass. Biologic investigation showed haemoglobin of 8.2 g/dl and a decrease of the albumin rate. Abdominal ultrasonography revealed a feature of an intussusception in the small bowel. Gastrointestinal and small bowel contrast radiography showed multiple polyps of the small bowel of variable size. Colonoscopy detected polyps of the coecum. Upper gastrointestinal tract endoscopy showed a giant gastric polyp situated in the corpus. In front of this clinical manifestation, the diagnosis of PJS was suspected, and the acute abdominal pain was explained by intestinal intussusception requiring surgical decompression. At laparotomy, an ileoileal intussusception was identified extending on 20 cm in length, located at 1.50 m far from the coecum and caused by a protruding polyp of 5 cm in size. The latter was removed by enterotomy and polypectomy from a small longitudinal incision of 2–3 cm. Twenty-three additional small intestinal polyps were identified and removed, with minimal enterotomies being carried out at the base of the largest polyps. During the same operation, the gastric polyps were excised by a cross gastrostomy and large mucosectomy. A total of 24 intestinal polyps associated with numerous gastric agglomerated little polyps were exanimate. The polyps measured 1–5 cm in length. The surface was irregular, convoluted and underwent a villous feature. Histological examination of the specimens demonstrated a tree-like feature, with an abnormal branching pattern and a hyperplasia of the epithelium in all polyps. Some glands were cystic. Cores of smooth muscle fibres were admixed. Some of the polyps exhibited focal areas of inflammation Int J Colorectal Dis (2009) 24:1361–1363 DOI 10.1007/s00384-009-0728-9

Mucormycose parotidienne : une nouvelle observation et revue de la littérature

INTRODUCTION Mucormycosis is a rare, devastating, fungal infection, which disproportionately affects non-controlled diabetic patients, notably during ketoacidosis. The authors report the case of cervical mucormycoses with a particularly favorable evolution in diabetic woman. REPORT A 54-year-old woman, type 2 diabetic, had presented a left lateral cervical mass. The diagnosis was confirmed by histological examination. She was treated with Amphotericin B with favorable evolution. CONCLUSION The mucormycose is a rare infection. The treatment is medical and surgical. The prognosis is severe with an overall mortality rate of 40%.

Les tumeurs myofibroblastiques inflammatoires : association fortuite ou complication peu connue du post-partum ?

The inflammatory myofibroblastic tumour has clinical, biological or histological features sometimes misleading with a septic condition. Presenting symptoms are variable and arising circumstances remain obscure. We report three cases occurring in a postpartum context. The first patient, a 28-year-old female, had left psoitis with a sepsis the first day postpartum in relation with an inflammatory myofibroblastic tumour of the meso-ovary. The second patient, a 40-year-old woman, had a hepatic inflammatory myofibroblastic tumour revealed by a ruptured sub-capsular haematoma of the liver in the forth day postpartum. The third patient, a 32-year-old woman, had a pulmonary inflammatory myofibroblastic tumour, diagnosed 5 months after a delivery and which recurred 10 years after surgical treatment. These cases illustrate the difficulty to diagnose inflammatory myofibroblastic tumour, particularly in postpartum.

Focal lipodystrophy without metabolic disorders in adult dermatomyositis

1 Fellman AC, Mehregan AH. Letter: halo nevi of scalp with poliosis. Arch Dermatol 1976; 112: 559. 2 Mendez B, Wood C. Poliosis in a scalp nodule. Congenital intradermal nevus with poliosis. Arch Dermatol 1993; 129: 1333–1336. 3 Walker S, Lucke TW, Burden AD, et al. Poliosis circumscripta associated with scalp naevi: a report of four cases. Br J Dermatol 1999; 140: 1182–1184. 4 Kim SK, Do JE, Kang HY, et al. Poliosis developing in a melanocytic nevus. Eur J Dermatol 2007; 17: 347–348. 5 Yosipovitch G, Feinmesser M, Mutalik S. Poliosis associated with a giant congenital nevus. Arch Dermatol 1999; 135: 859–861. 6 Young LC, Van Dyke GS, Lipton S, et al. Poliosis overlying a nevus with blue nevus features. Dermatol Online J 2008; 14: 20. 7 Reed RJ, Ichinose H, Clark WH Jr, et al. Common and uncommon melanocytic nevi and borderline melanomas. Semin Oncol 1975; 2: 119–147.

Intranodal Palisaded Myofibroblastoma in a Submandibular Lymph Node

Intranodal palisaded myofibroblastoma (IPM), also known as “intranodal hemorrhagic spindle cell tumor with amianthoid fibers,” is a rare benign mesenchymal tumor originating from smooth muscle cells and myofibroblasts, often with the presence of amianthoid fibers. Usually IPM affects inguinal lymph nodes, but three cases have been described in the submandibular and cervical lymph nodes. We report a new case of a 44-year-old women with submandibular mass. Cervical ultrasound showed a suspect right submandibular adenomegaly. The patient underwent an excision of the submandibular mass. Histological features of the tumor include an encapsulated fusocellular proliferation, with nuclear palisading, amianthoid fibers, hemosiderin pigment, and extravasated erythrocytes. In the light of these results, we made the diagnosis of IPM. No recurrence was found 5 years after surgery.

Adventitious discovery of elastofibroma dorsi on skin biopsy

Elastofibroma (elastofibroma dorsi) is a relatively rare and slowly growing pseudotumor of the soft tissue. It is usually located at the inferior subscapular region, between the lower pole of the scapula and the chest wall. Other localizations are possible but remain rare. It is more frequent in old individuals with a predilection for women. Generally, elastofibromas are unilateral and asymptomatic. Multiple forms are rare. In most reported cases, this lesion was incidentally discovered by radiological examination. In our case, it was an incidental histological discovery.

Une lésion inhabituelle du nasopharynx : la métaplasie oncocytaire

Oncocytic metaplasia of the nasopharynx is an exceptional lesion which exact etiopathogenesis, although largely discussed, still remains controversial. The purpose of this paper is to present the epidemiological characteristics and clinical signs of this lesion and to study its pathogenesis and its therapeutic modalities. We report two cases that occurred respectively in a 53- and 60-year-old woman. The first presented with pharyngeal dysesthesia and otalgia. The endoscopic examination revealed an irregularity of the posterior wall of the nasopharynx. The second patient presented with tinnitus, discomfort of the left ear and bilateral hearing loss. Endoscopic exam revealed a bilateral structural abnormality to the eardrum. Microscopy showed focal oncocytic metaplasia of the nasopharynx mucosa in both cases. There was a positive outcare for both patients after excisional biopsy. Oncocytic metaplasia seems to be in relation to the stimulation of sympathic neuropeptidergic nerve fibers which target epithelial, connective, endothelial and lymphoid cells.

P.11 - Etude moléculaire des altérations génétiques dans le cancer colorectal héréditaire

Introduction Le syndrome HNPCC (« Hereditary non polyposis colorectal cancer »), constitue un modele se pretant bien a l’etude des alterations genetiques moleculaires accompagnant le developpement du cancer colorectal (CCR). La mise en evidence d’alterations genetiques pourrait avoir des retombees sur le diagnostic, le pronostic et le suivi de la maladie. Dans ce travail nous avons examine l’instabilite microsatellitaire de l’ADN chez des patients presentant un CCR dans le cadre d’un syndrome HNPCC et cherche les mutations dans le gene MSH2, gene etant implique dans la reparation des erreurs d’appariement de l’ADN. Materiels et Methodes Etude prospective colligeant 6 prelevements de sang et biopsies de tumeurs chez des patients âges de moins de 50 ans ayant un CCR. L’ADN normal a ete extrait a partir des leucocytes peripheriques et l’ADN tumoral a partir des tissus paraffines d’archive. La recherche d’instabilite microsatellitaire (MSI) a ete realisee par PCR multiplexe des marqueurs microsatellites Bat 25, BAT40, NR21, NR22, NR24, suivie par l’analyse des amplicons par electrophorese capillaire automatique. La detection de polymorphismes a ete faite par Single Strand Conformation Polymorphism (SSCP) sur les amplicons. L’expression du gene MSH2 a ete etudiee par immunohistochimie et la recherche de mutations dans les 16 exons de ce gene a ete faite par sequencage des amplicons. Resultats Les resultas de l’analyse moleculaire nous ont permis de distinguer 3 phenotypes tumoraux : le phenotype a microsatellites hautement instables ou MSI-High (MSI-H), le phenotype a instabilite faible ou MSI-Low (MSI-L) et le phenotype a microsatellites stables (MSS). L’immuno-histochimie nous a indique que le gene MSH2 n’etait exprime que dans les tumeurs a microsatellites stables. Le sequencage du gene MSH2 a revele la presence, chez un patient a MSI-H, d’une mutation (2427insG) germinale a l’etat heterozygote au niveau de l’exon 14, dont l’effet consiste en l’apparition d’un codon stop premature resultant en un produit tronque. Deux poly-morphismes distincts ont aussi ete notes au niveau des introns 10 (IVS10+12 G > A) et 11 (IVS11-61 A > G). Conclusion Ces resultats, confrontes aux donnees de la litterature, confirment l’interet de l’etude du gene MSH2 par sequencage et immunohistochimie, et l’analyse de l’instabilite des microsatellites, pour distinguer differents types moleculaires de tumeurs HNPCC.