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1.
Braz J Biol ; 84: e265447, 2022.
Article in English | MEDLINE | ID: mdl-36383787

ABSTRACT

The present study aimed to evaluate the in vitro antibacterial and antioxidant activities and the in vivo wound healing performance of a polysaccharide isolated from Glycyrrhiza glabra named PSG. It was structurally characterized by Fourier transformed infrared (FT-IR) spectroscopy, which confirmed the presence of different polysaccharides functional bands. The antioxidant capacity of PSG was determined in vitro and evaluated in vivo through the examination of wound healing capacity. Thirty two rats were randomly divided into four groups: group I was treated with physiological serum (negative control); group II was treated with "CYTOL CENTELLA®"; group III was treated with glycerol and group IV was treated with polysaccharide. The response to treatments was assessed by macroscopic, histologic, and biochemical parameters. Data revealed that our sample exhibited potential antioxidant activities and accelerated significantly the wound healing process, after ten days of treatment, proved by the higher wound appearance scores and a higher content of collagen confirmed by histological examination, when compared with control and "CYTOL CENTELLA®". Overall, these findings proved that this polysaccharide isolated from Glycyrrhiza glabra could be considered as a natural bioactive polymer for therapeutic process in wound healing applications.


Subject(s)
Glycyrrhiza , Rats , Animals , Rats, Wistar , Antioxidants/pharmacology , Antioxidants/chemistry , Water , Spectroscopy, Fourier Transform Infrared , Wound Healing/physiology , Polysaccharides/pharmacology , Polysaccharides/chemistry , Plant Extracts/pharmacology , Plant Extracts/chemistry
2.
Cancer Radiother ; 25(2): 155-160, 2021 Apr.
Article in French | MEDLINE | ID: mdl-33402291

ABSTRACT

PURPOSE: To describe the clinical, therapeutic and prognostic features of ductal carcinomas of the parotid gland. MATERIAL AND METHODS: Five patients with ductal carcinoma of the parotid gland (primary and secondary carcinoma) treated, between 2007 and 2019, in our ENT department, were reviewed. RESULTS: Four men and one woman were included. The mean age was 61,4 years. One patient had a history of an invasive ductal carcinoma of the breast. Four patients consulted for swelling in the parotid region. One patient referred to our department for dysfunction of facial nerve. Skin invasion was found in one case. Four patients underwent total parotidectomy with sacrifice of the facial nerve (three cases). One patient underwent extended parotidectomy involving the skin. An ipsilateral selective neck dissection was performed in four cases. One patient had a parotid gland biopsy. Ductal carcinoma was primary in four cases and metastatic from breast origin in one case. Four patients were treated with postoperative radiotherapy. Remission was obtained in three cases. One patient had a local and meningeal recurrence. The patient with metastatic carcinoma had pulmonary, bone, hepatic and brain progression. CONCLUSION: Ductal carcinoma is a rare and aggressive tumor of the parotid gland. It can be primary or secondary. The treatment is based on surgery and radiotherapy. The prognosis is poor.


Subject(s)
Carcinoma, Ductal/surgery , Parotid Neoplasms/surgery , Adult , Aged , Aged, 80 and over , Breast Neoplasms/pathology , Carcinoma, Ductal/diagnostic imaging , Carcinoma, Ductal/pathology , Carcinoma, Ductal/secondary , Carcinoma, Ductal, Breast/pathology , Carcinoma, Ductal, Breast/secondary , Facial Nerve/surgery , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neck Dissection/statistics & numerical data , Neoplasm Invasiveness , Parotid Gland/diagnostic imaging , Parotid Gland/surgery , Parotid Neoplasms/diagnostic imaging , Parotid Neoplasms/pathology , Parotid Neoplasms/secondary , Prognosis , Retrospective Studies , Skin Neoplasms/pathology
3.
Pathologica ; 110(2): 103-105, 2018 Sep.
Article in English | MEDLINE | ID: mdl-30546146

ABSTRACT

Extraskeletal chondrosarcoma is a rare malignant tumor. The well differentiated histological type, which is found primary in soft tissue, is extremely rare. This report  describes the case of a 58-year-old woman presented with a large palpable mass in the right buttock. Imaging studies revealed a well-defined soft tissue mass, with extensive calcification. A histological examination after surgical resection confirmed the diagnosis of well-differentiated extraosseous chondrosarcoma. The outcome was favorable, without recurrence or metastasis.


Subject(s)
Cell Differentiation , Chondrosarcoma/pathology , Neoplasms, Connective and Soft Tissue/pathology , Biopsy , Buttocks , Chondrosarcoma/diagnostic imaging , Chondrosarcoma/surgery , Diagnosis, Differential , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Neoplasms, Connective and Soft Tissue/diagnostic imaging , Neoplasms, Connective and Soft Tissue/surgery , Predictive Value of Tests , Tomography, X-Ray Computed , Tumor Burden
4.
Eur Ann Otorhinolaryngol Head Neck Dis ; 135(4): 291-293, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29914738

ABSTRACT

INTRODUCTION: We report the first case of squamous cell carcinoma (SCC) of the thyroid gland coexisting with papillary thyroid carcinoma (PTC) and Hashimoto's thyroiditis and discuss various theories concerning the histogenesis of SCC of the thyroid gland and the optimal treatment strategy. CASE REPORT: A 54-year-old woman presented with an anterior neck mass measuring 4cm on clinical examination. Imaging showed a suspicious thyroid nodule invading the trachea. Total thyroidectomy with bilateral central lymph node resection was performed. Histological examination revealed tall cell variant of papillary thyroid carcinoma associated with SCC of the right lobe of the thyroid and Hashimoto's thyroiditis. Immunohistochemistry of the SCC showed positive staining for p53 and Ki67 and negative staining for thyroglobulin. The patient underwent adjuvant radioactive iodine therapy and radiotherapy. With postoperative follow-up of 24 months, the patient was in good health. DISCUSSION: In conclusion, the most probable origin of SCC in this case was malignant transformation from Hashimoto's thyroiditis following a phase of metaplasia. This immunohistological profile is associated with a better prognosis. Optimal treatment consists of extensive surgical resection of tumour tissuefollowed by radiotherapy.


Subject(s)
Carcinoma, Squamous Cell/complications , Hashimoto Disease/complications , Neoplasms, Multiple Primary/complications , Thyroid Cancer, Papillary/complications , Thyroid Neoplasms/complications , Female , Humans , Middle Aged
5.
Ann Cardiol Angeiol (Paris) ; 66(6): 393-399, 2017 Dec.
Article in French | MEDLINE | ID: mdl-29096904

ABSTRACT

Stent thrombosis (ST) is still a dreadful and threatening complication of percutaneous coronary intervention (PCI) with a high risk of morbi-mortality. Nevertheless, it becomes exceptional (0.6% at 1 year and 0.15%/year later) thanks to improvement of stents and use of new P2Y12 inhibitors. Endo-coronary imaging and especially Optical Coherence Tomography (OCT) change radically its understanding with revealing quiet systematic morphologic endoluminal abnormalities (97% of the cases). OCT becomes an essential tool in practice (ESC recommendation class IIa) and allows a therapeutic strategy optimization. Its prevention is based on mechanical causes correction and a personalized adaptation of anti-platelet treatment.


Subject(s)
Coronary Thrombosis/diagnostic imaging , Coronary Thrombosis/therapy , Percutaneous Coronary Intervention/adverse effects , Purinergic P2Y Receptor Antagonists/therapeutic use , Stents/adverse effects , Tomography, Optical Coherence , Coronary Thrombosis/diagnosis , Drug-Eluting Stents/adverse effects , Humans , Predictive Value of Tests , Sensitivity and Specificity , Tomography, Optical Coherence/methods , Treatment Outcome
6.
Pathologica ; 109(3): 151-155, 2017 Sep.
Article in English | MEDLINE | ID: mdl-29154374

ABSTRACT

Microcystic urothelial carcinoma is a rare variant of invasive transitional cell carcinoma recognized by the WHO classification. It is characterized by its deceptively benign appearance. The clinical course of this uncommon variety of carcinoma is not well known and their histological and immunohistological features are not well defined. We report a case of a 37-year-old man with a microcystic transitional cell carcinoma of the urinary bladder. He was diagnosed 4 years ago with cystitis glandularis lesions and nephrogenic adenoma. Through this observation we will try to define the clinical and pathological features of this uncommon tumor which must be differentiated from a number of proliferative lesions of the urothelium. The poor prognosis and aggressiveness of this tumor seems to be related to a higher stage and grade at diagnosis.


Subject(s)
Carcinoma, Transitional Cell/diagnostic imaging , Urinary Bladder Neoplasms/diagnostic imaging , Adult , Carcinoma, Transitional Cell/pathology , Cysts/diagnostic imaging , Cysts/pathology , Humans , Male , Prognosis , Urinary Bladder/diagnostic imaging , Urinary Bladder/pathology , Urinary Bladder Neoplasms/pathology , Urothelium/diagnostic imaging , Urothelium/pathology
7.
Pathologica ; 108(4): 175-178, 2016 Dec.
Article in English | MEDLINE | ID: mdl-28195259

ABSTRACT

Osteosarcoma (OS) is a common primary malignant tumor of bones that produces osteoid matrix. Telangiectatic osteosarcoma (TOS) is a rare variant of OS. It affects the long bones especially the lower end of femur and the upper ends of tibia and humerus, a distribution similar to the conventional osteosarcoma. The rib involvement is very infrequent. We present a case of TOS of the rib that posed a diagnostic difficulty owing to its unusual location and to its resemblance to giant cell tumor and aneurysmal bone cyst. Correspondence.


Subject(s)
Bone Neoplasms/pathology , Osteosarcoma/pathology , Ribs/pathology , Telangiectasis/pathology , Adult , Biopsy , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/surgery , Diagnosis, Differential , Diagnostic Errors , Female , Humans , Osteosarcoma/diagnostic imaging , Osteosarcoma/surgery , Predictive Value of Tests , Ribs/diagnostic imaging , Ribs/surgery , Telangiectasis/diagnostic imaging , Telangiectasis/surgery , Tomography, X-Ray Computed , Treatment Outcome
8.
Pathologica ; 106(4): 330-4, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25845049

ABSTRACT

Mixed stromal and smooth muscle uterine tumours, defined as those containing at least 30% of each component as seen by routine light microscopy, are rare. This report describes the morphological features of two such tumours diagnosed in 44-year-old and 50-year-old females complaining from recurrent uterine bleeding that was unresponsive to medical treatment. Morphological and immunohistochemical evaluations were performed, and a final diagnosis of mixed endometrial stromal nodule and smooth muscle tumour of the uterus was rendered in both cases.


Subject(s)
Endometrial Neoplasms/pathology , Mixed Tumor, Malignant/pathology , Smooth Muscle Tumor/pathology , Uterine Neoplasms/pathology , Uterus/pathology , Adult , Diagnosis, Differential , Endometrial Neoplasms/complications , Endometrial Neoplasms/diagnosis , Female , Humans , Middle Aged , Mixed Tumor, Malignant/diagnosis , Smooth Muscle Tumor/complications , Smooth Muscle Tumor/diagnosis , Uterine Neoplasms/diagnosis
9.
Int J Immunogenet ; 40(4): 284-91, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23280318

ABSTRACT

The Pendred syndrome (PS) gene, SLC26A4, was involved in the genetic susceptibility of autoimmune thyroid disease (AITD) in Tunisian population. Recently, functional assays have shown a differential expression of SLC26A4 gene between Graves' disease (GD) and Hashimoto's thyroiditis (HT). Here, by the mean of DHPLC and HRM, we explored the 21 exons and their flanking intronic sequences of 128 patients affected with GD (n = 64) or HT (n = 64). The pathogenic effect of identified variations on splice was investigated using the web server HSF. Eighteen allelic variations were identified and ranged on missense, sens and splice variations. Nine identified variations (c.-66C>G, c.898A>C, c.1002-9A>C, c.1061T>C, c.1544 + 9G>T, c.1545-5T>G, c.1790T>C, c.1826T>G, c.2139T>G) were previously reported in hearing impairment studies. Forty-seven per cent (30/64) of GD patients and 37,5% (24/64) of HT patients present at least one variant in the explored sequences. Moreover, the analysis of the variant distribution between HT (9 (5'UTR), 12 exonic and 13 intronic) and GD (18 (5'UTR), 13 exonic and 5 intronic) patients showed a significant difference (χ² = 6.54, 2df, P = 0.03). Interestingly, missense changes (I300L, p.M283I, F354S and p.L597S) affected conserved residues of pendrin. On the other hand, the HSF analyses ascertain that some variants identified in HT disease are predicted to have a pathogenic effect on splice. In conclusion, our analysis of SLC26A4 sequence variations suggested a distinct genetics basis between HT and GD patients, which should be confirmed on a large cohort.


Subject(s)
Graves Disease/genetics , Hashimoto Disease/genetics , Membrane Transport Proteins/genetics , Adult , Alleles , Cohort Studies , Female , Gene Expression/genetics , Genetic Predisposition to Disease , Genetic Testing , Genetic Variation , Goiter, Nodular/genetics , Hearing Loss, Sensorineural/genetics , Humans , Male , Mutation, Missense , Protein Isoforms/genetics , Sulfate Transporters , Tunisia
10.
Rev Stomatol Chir Maxillofac ; 113(5): 370-4, 2012 Nov.
Article in French | MEDLINE | ID: mdl-22944594

ABSTRACT

INTRODUCTION: A hamartoma is a benign tumor-like malformation, often taking the form of vascular malformation such as hemangiomas and lymphangiomas; hamartoma composed of other tissue types are much rarer in the oral cavity, exceptionally reported in the palate. We report herein a new case of palatal hamartoma. Our aim is to describe the epidemiological, clinico-pathologic and therapeutic features of this lesion. OBSERVATION: A 53-years-old woman had a painless mass located on the right hard palate, measuring 2×1.5 cm of diameter, the mass was elastic with a smooth surface. On imaging, this mass was well-circumscribed, homogenous with moderate enhancement and thinning of the bone. A surgical excision was performed. Histological examination showed an ill-defined mass composed of hyperplasic salivary gland, nerve fibers, blood vessels and adipose tissue. According to these findings, the palatal lesion was interpreted as hamartoma. CONCLUSION: The palatal hamartoma can mimic clinically a malign neoplasm; its diagnosis is histological. Its treatment is essentially surgical. The prognosis is usually favorable without recurrence.


Subject(s)
Hamartoma/diagnosis , Jaw Diseases/diagnosis , Palate/pathology , Female , Hamartoma/diagnostic imaging , Hamartoma/pathology , Humans , Jaw Diseases/diagnostic imaging , Jaw Diseases/pathology , Middle Aged , Palate/diagnostic imaging , Tomography, X-Ray Computed
11.
Neurochirurgie ; 57(1): 39-41, 2011 Feb.
Article in French | MEDLINE | ID: mdl-20880561

ABSTRACT

Desmoplastic fibromas are uncommon osseous tumors that seldom involve the skull. These tumors are histologically benign but locally aggressive with a propensity for recurrence if resection is partial. To our knowledge, only 16 cases have been reported in the literature, seven of which concerned children. We report a further case of a desmoplastic fibroma of the skull in a 3-year-old boy who presented with a right parietal mass. The CT scan showed a lytic mass with brain compression and cortical destruction. The patient underwent a craniectomy and complete mass resection. Histological diagnosis was desmoplastic fibroma. Postoperative progress was normal without recurrence 6 months later.


Subject(s)
Fibroma, Desmoplastic/surgery , Skull Neoplasms/surgery , Bone Marrow/pathology , Cerebral Cortex/pathology , Child, Preschool , Craniotomy , Fibroma, Desmoplastic/pathology , Humans , Male , Neurosurgical Procedures , Parietal Lobe/pathology , Skull/pathology , Skull Neoplasms/pathology , Tomography, X-Ray Computed
14.
Rev Med Brux ; 30(5): 511-4, 2009.
Article in French | MEDLINE | ID: mdl-19998797

ABSTRACT

The purpose of this study was to analysis the clinicopathological features of adenomatoid odontogenic tumour extrafollicular and to discuss the diagnosis pitfull. We present two cases diagnosed and followed at the C.H.U. Habib Bourguiba, Sfax. It is about a 15 year-old boy and a 46 year-old woman who presented gingival swelling. The panoramic radiographs showed in both cases, a radiolucent area affecting teeth 23, 24 and 35 respectively. A computed tomography scan, realized at the second cas, demonstrated an expansile lesion with a sclerotic rim. An exploratory surgical approach was chosen and the final diagnosis was microscopically confirmed to be an extrafollicular variant of adenomatoid odontogenic tumour. The patients were healthy and have not shown any signs of recurrence at follow-up. The two cases described illustrate clinical and radiographic features of the extrafollicular variant of adenomatoid odontogenic tumour. Careful diagnostic procedure and adequate interpretation of radiographic findings may result in a correct diagnosis with otherwise may result in unnecessary endodontic treatment.


Subject(s)
Mandibular Neoplasms/diagnostic imaging , Odontogenic Tumors/diagnostic imaging , Adolescent , Calcinosis/pathology , Cell Division , Epithelium/diagnostic imaging , Epithelium/pathology , Female , Humans , Male , Mandibular Neoplasms/pathology , Mandibular Neoplasms/surgery , Middle Aged , Odontogenic Tumors/pathology , Odontogenic Tumors/surgery , Tomography, X-Ray Computed , Treatment Outcome
15.
Ann Endocrinol (Paris) ; 70(6): 485-8, 2009 Dec.
Article in French | MEDLINE | ID: mdl-19880092

ABSTRACT

INTRODUCTION: Dyshormonogenetic goiter is a genetically determined thyroid hyperplasia due to an enzyme defect in thyroid-hormone synthesis. Malignant transformation is one of the most serious complications, rarely reported in the literature. OBSERVATION: We report a new case of a 13-year-old boy with goitrous hypothyroidism who consulted for a voluminous goiter. Total thyroidectomy was performed. Histopathological examination revealed multiple foci of papillary carcinoma with a lymph node metastasis. CONCLUSION: Dyshormonogenetic goiter is a rare entity, representing one of the causes of congenital hypothyroidism. It is morphologically characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy and cause difficulties in differential diagnosis.


Subject(s)
Carcinoma, Papillary/pathology , Congenital Hypothyroidism/pathology , Goiter/genetics , Goiter/pathology , Thyroid Neoplasms/pathology , Adolescent , Carcinoma, Papillary/surgery , Cell Transformation, Neoplastic/pathology , Congenital Hypothyroidism/drug therapy , Congenital Hypothyroidism/genetics , Diagnosis, Differential , Goiter/surgery , Humans , Hyperplasia , Lymphatic Metastasis , Male , Mutation , Thyroid Gland/pathology , Thyroid Hormones/biosynthesis , Thyroid Hormones/genetics , Thyroid Neoplasms/surgery , Thyroidectomy
16.
Pathologica ; 101(3): 130-2, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19886549

ABSTRACT

Endometriosis is a common condition affecting the female genital tract, but involvement of the ileum is very rare. Its symptoms are vague and are similar to other benign and malignant disorders, and radiographic findings lack specificity. We report the case of a 23-year-old woman presenting with acute intestinal obstruction for whom preoperative diagnosis favoured acute appendicitis. Laparotomy revealed ileal stenosis. A partial small bowel resection was performed. Pathological examination diagnosed ileal endometriosis. Endometriosis may be a cause acute abdominal pain in women, and should be considered in differential diagnosis. Difficulties in establishing its diagnosis are discussed.


Subject(s)
Endometriosis/complications , Ileal Diseases/etiology , Intestinal Obstruction/etiology , Adult , Appendicitis/pathology , Diagnosis, Differential , Digestive System Surgical Procedures , Endometriosis/pathology , Endometriosis/surgery , Female , Humans , Ileal Diseases/pathology , Ileal Diseases/surgery , Intestinal Obstruction/pathology , Intestinal Obstruction/surgery
17.
Pathologica ; 101(2): 101-4, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19886558

ABSTRACT

INTRODUCTION: Small cell osteosarcoma (SCO) is a rare bone tumour representing 1.3% of all osteosarcomas. This rare variety of osteosarcoma tends to arise in the metaphysis of long bones and may extend secondary to epiphysis. By histopathology, the tumour is composed of small round cells with a variable degree of osteoid production. We report a new case of SCO in the distal femur with epiphyseal involvement. We also present the clinical, radiologic and therapeutic features of SCO with particular emphasis on the pathologic features that allow differentiation of this neoplasm from other small round cell tumours. OBSERVATION: A 14-year-old girl presented with a 6-month history of a painful tumefaction of the left knee with motor deficit. Imaging analysis of the knee demonstrated a lytic lesion of the metaphysis in addition to epiphysis of the distal femur with cortical destruction and invasion of soft tissues. Histological examination of a biopsy specimen showed sheets of neoplastic small round cells simulating Ewing's sarcoma. Osteoid was focally present. A diagnosis of SCO was made. The patient received 2 cycles of adjuvant chemotherapy with ifosfamide, adriamycin and cisplatin. MRI showed no change in tumour size. An en bloc, wide-margin resection of the lesion was performed. Histological examination showed a viable tumour with few necrotic foci. The patient received adjuvant chemotherapy with Holoxan and VP16. The clinical response was favourable. CONCLUSION: SCO is a rare clinical entity with a high grade of malignancy that must be distinguished from other round cell tumours, particularly Ewing's sarcoma, in order to optimise treatment protocols.


Subject(s)
Bone Neoplasms/pathology , Femur/pathology , Osteosarcoma/pathology , Adolescent , Antineoplastic Combined Chemotherapy Protocols , Bone Neoplasms/metabolism , Bone Neoplasms/therapy , Combined Modality Therapy , Female , Humans , Immunohistochemistry , Orthopedic Procedures , Osteosarcoma/metabolism , Osteosarcoma/therapy
18.
Cancer Radiother ; 13(4): 323-8, 2009 Jul.
Article in French | MEDLINE | ID: mdl-19464219

ABSTRACT

Adenoid cystic carcinoma of the breast is a rare neoplasm, accounting for only 0.1% of all malignant breast tumours. It is more common in women in the sixth decade of their lives and often in the subareolar area. The clinical criteria is not specific and the radiographic examination showed a benign-appearing tumour. The preoperative diagnosis is possible with fine-needle aspiration cytology. The diagnosis is made by histological examination, presented a difficult differential diagnosis with cribriform carcinoma; so it is necessary to use histochemical or immunohistochemical techniques. The treatment is not well established. It consists of lumpectomy with radiation or mastectomy. Compared to other locations, adenoid cystic carcinoma of the breast has a favorable prognosis. Lymph node involvement or distant metastases seldom occur. The aim of our study is to describe the epidemiological, clinicopathological characteristics, the treatment and the prognosis of this rare type of breast tumour.


Subject(s)
Breast Neoplasms , Carcinoma, Adenoid Cystic , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Breast Neoplasms/diagnosis , Breast Neoplasms/epidemiology , Breast Neoplasms/pathology , Breast Neoplasms/therapy , Carcinoma, Adenoid Cystic/diagnosis , Carcinoma, Adenoid Cystic/epidemiology , Carcinoma, Adenoid Cystic/pathology , Carcinoma, Adenoid Cystic/therapy , Combined Modality Therapy/methods , Diagnosis, Differential , Female , Humans , Middle Aged , Young Adult
19.
Rev Mal Respir ; 26(3): 333-7, 2009 Mar.
Article in French | MEDLINE | ID: mdl-19367209

ABSTRACT

INTRODUCTION: Rhabdomyosarcoma is the most common soft tissue sarcoma in the first two decades of life. Its most common location is the head and neck. It rarely arises in the thorax including the pleura. There are only 7 previously reported cases in the literature. We report a case of primary pleural rhabdomyosarcoma with an unusual clinical presentation and location. Our aim is to discuss the clinical presentation, treatment and prognosis of this uncommon location of rhabdomyosarcoma. CASE REPORT: We report a case of primary embryonal rhabdomyosarcoma of the pleura in a boy of 21 months. The presentation was characterized by recurrent spontaneous pneumothorax. A computed tomography scan showed only pleural detachment with no evidence of any pleural disease. The malignant cells incidentally found in routine pleural biopsy were the diagnostic clue. The rhabdomyoblastic nature of these cells was confirmed by positive immunostains for myoD1 and desmin. Investigation for metastases was negative. Despite chemotherapy, the tumour quickly increased in size and the infant died from acute respiratory failure. CONCLUSION: Thoracic rhabdomyosarcoma is rare and remains clinically silent for a long time. Its management is still controversial. Prognosis is generally poor when compared with other locations.


Subject(s)
Pleural Neoplasms/diagnosis , Pneumothorax/etiology , Rhabdomyosarcoma/diagnosis , Fatal Outcome , Humans , Infant , Male , Recurrence
20.
Rev Med Interne ; 30(1): 88-90, 2009 Jan.
Article in French | MEDLINE | ID: mdl-18433941

ABSTRACT

Alport syndrome is a rare progressive hematuric nephropathy associated with sensorineural deafness. Leiomyomatosis associated with Alport syndrome is quite rare. We report a particular case of Alport syndrome which was diagnosed in the setting of an oesophageal leiomyomatosis. Alport syndrome and leiomyomatosis are caused by mutation of the genes encoding for the alpha chain of type IV collagen. In view of the important clinical and genetic implications, renal function and urinary status should be controlled in any patient with oesophageal leiomyomatosis.


Subject(s)
Esophageal Neoplasms/complications , Leiomyomatosis/complications , Nephritis, Hereditary/diagnosis , Adult , Esophageal Neoplasms/diagnosis , Esophageal Neoplasms/genetics , Esophageal Neoplasms/surgery , Esophagectomy , Humans , Immunohistochemistry , Leiomyomatosis/diagnosis , Leiomyomatosis/genetics , Leiomyomatosis/surgery , Male , Mutation , Nephritis, Hereditary/complications , Nephritis, Hereditary/genetics , Pedigree
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