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2.
PLoS One ; 16(10): e0258777, 2021.
Article in English | MEDLINE | ID: mdl-34669720

ABSTRACT

Erythrokeratodermia variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3. Genetic heterogeneity of EKV has already been suggested. We investigated at the clinical and genetic level a consanguineous Tunisian family with 2 sisters presenting an autosomal recessive form of EKV to better characterize this disease. Mutational analysis initially screened the connexin genes and Whole-exome sequencing (WES) was performed to identify the molecular aetiology of the particular EKV phenotype in the proband. Migratory shaped erythematous areas are the initial presenting sign followed by relatively stable hyperkeratotic plaques are the two predominates characteristics in both patients. However, remarkable variability of morphological and dominating features of the disease were observed between patients. In particular, the younger sister (proband) exhibited ichthyosiform-like appearance suggesting Autosomal Recessive Congenital Ichthyosis (ARCI) condition. No causative mutations were detected in the GJB3 and GJB4 genes. WES results revealed a novel missense homozygous mutation in NIPAL4 gene (c.835C>G, p.Pro279Ala) in both patients. This variant is predicted to be likely pathogenic. In addition, in silico analysis of the mutated 3D domain structure predicted that this variant would result in NIPA4 protein destabilization and Mg2+ transport perturbation, pointing out the potential role of NIPAL4 gene in the development and maintenance of the barrier function of the epidermis. Taken togheter, these results expand the clinical phenotype associated with NIPAL4 mutation and reinforce our hypothesis of NIPAL4 as the main candidate gene for the EKV-like ARCI phenotype.


Subject(s)
Erythrokeratodermia Variabilis/genetics , Exome Sequencing/methods , Mutation, Missense , Receptors, Cell Surface/chemistry , Receptors, Cell Surface/genetics , Child , Connexins/genetics , Consanguinity , Female , Humans , Infant , Molecular Docking Simulation , Pedigree , Phenotype , Protein Stability , Tunisia
3.
Tunis Med ; 97(12): 1419-1421, 2019 Dec.
Article in English | MEDLINE | ID: mdl-32173814

ABSTRACT

INTRODUCTION: Anguillulosis is a ubiquitous digestive parasitosis. Rare in Tunisia, it is due to a round worm, strongyloid stercoralis, whose natural lodging is the duodeno-jejunal mucosa. Its malignant form is rare but it represents a potentially life-threatening disease. AIM: We report a case of malignant anguillulosis occurring in a context of immunosuppression. OBSERVATION: The case we report is about a 46-year-old man treated by a long-term corticosteroid therapy for Takayasu disease. He was hospitalized for an acute digestive syndrome. Biopsies were performed but the evolution was rapidly marked by multiorgan failure, sepsis and death of the patient. Histological analysis of the digestive biopsies concluded to an oeso-gastroduodenal anguillulosis. CONCLUSION: Anguillulosis is a rare parasitosis but it can pose a health problem especially in its malignant form wich can be a life-threatening.


Subject(s)
Multiple Organ Failure/parasitology , Strongyloidiasis/diagnosis , Strongyloidiasis/pathology , Adrenal Cortex Hormones/therapeutic use , Animals , Disease Progression , Esophageal Mucosa/parasitology , Esophageal Mucosa/pathology , Fatal Outcome , Gastroenteritis/parasitology , Gastroenteritis/pathology , Humans , Immunocompromised Host , Male , Middle Aged , Multiple Organ Failure/diagnosis , Strongyloides stercoralis/isolation & purification , Strongyloides stercoralis/physiology , Takayasu Arteritis/complications , Takayasu Arteritis/drug therapy , Takayasu Arteritis/parasitology , Takayasu Arteritis/pathology , Tunisia
4.
J Cutan Pathol ; 46(3): 234-237, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30582192

ABSTRACT

Neuroblastoma-like schwannoma (NLS) is a rare variant of a common tumor. The aim of this study is to discuss, through a literature review, the differential diagnoses of NLS while emphasizing the importance of ancillary studies. So far, 24 cases have been reported. We describe an additional case in a 64-year-old woman who had a 3-cm subcutaneous tumor on her flank. The histological examination showed an encapsulated neoplasm. Most of the tumor was made of giant rosettes. These rosettes had several sizes reaching 2.6 mm. They showed a palisade of rounded cells. Nuclei were hyperchromatic but bland. The center was made of eosinophilic cores of collagenous radiating fibrils. Neoplastic cells stained strongly for S-100 protein. In the capsule, perineural cells stained for epithelial membrane antigen (EMA). No expression of Mucin 4 (MUC4) was present. This was consistent with NLS. The same peculiar appearance of giant rosettes has been described in hyalinizing spindle cell tumor with giant rosettes (HSCT). We propose the term "neuroblastoma-like schwannoma" when there are small rosettes, "HSCT-like schwannoma" for tumors with giant rosettes and "collagen-rich schwannoma" when there are "ill-defined" structures reminiscent of rosettes. Immunohistochemical panel containing S100, EMA, and MUC4, as well as molecular testing when needed should be performed.


Subject(s)
Neurilemmoma/diagnosis , Neurilemmoma/pathology , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/pathology , Diagnosis, Differential , Female , Humans , Middle Aged , Sarcoma/diagnosis , Sarcoma/pathology
5.
Case Rep Otolaryngol ; 2017: 7121485, 2017.
Article in English | MEDLINE | ID: mdl-29225986

ABSTRACT

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.

10.
Ann Pathol ; 31(5): 396-8, 2011 Oct.
Article in French | MEDLINE | ID: mdl-21982249

ABSTRACT

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.


Subject(s)
Nasopharynx/pathology , Oxyphil Cells/pathology , Biopsy , Deglutition Disorders/etiology , Earache/etiology , Epithelial Cells/pathology , Female , Hearing Loss, Bilateral/etiology , Humans , Metaplasia , Middle Aged , Nasal Mucosa/pathology , Nasopharynx/surgery , Neuropeptides/metabolism , Pseudolymphoma/etiology , Sympathetic Fibers, Postganglionic/metabolism , Tinnitus/etiology
11.
Tunis Med ; 88(4): 240-4, 2010 Apr.
Article in French | MEDLINE | ID: mdl-20446256

ABSTRACT

BACKGROUND: The salivary gland tumors are rare (less than 3% of all tumors) and poorly known. In fact, they are numerous and histologically difficult to diagnose. AIM: This work aims to point at the different histological types of salivary gland tumors, to draw out the principal epidemiological, clinical, radiological and histological characteristics, and to compare our cases to those of the literature. METHODS: Accordingly, we performed a descriptive type study about 180 cases of salivary gland tumors from the departments of pathology and oto-rhino-laryngology of Habib Thameur hospital during 25 years, extending from April 1979 to December 2004. RESULTS: Benign tumors were predominant (88%), while malignant ones represented 12% of our cases dominated by carcinomas. The sex-ratio was 0.96. Parotid gland location was the most frequent one, and pleomorphic adenoma was the most frequent tumor (62%). CONCLUSION: Histological diversity of salivary tumors results in difficulties for differential diagnosis. These problems can be solved by a precise diagnostic approach and sometimes by an immunohistochemistry study.


Subject(s)
Salivary Gland Neoplasms/epidemiology , Salivary Gland Neoplasms/pathology , Adenoma/epidemiology , Adenoma/pathology , Adolescent , Adult , Aged , Carcinoma/epidemiology , Carcinoma/pathology , Child , Child, Preschool , Female , Humans , Lipoma/epidemiology , Lipoma/pathology , Lymphangioma/epidemiology , Lymphangioma/pathology , Male , Middle Aged , Neurilemmoma/epidemiology , Neurilemmoma/pathology , Neurofibroma/epidemiology , Neurofibroma/pathology , Tunisia/epidemiology , Young Adult
14.
Tunis Med ; 86(11): 1000-3, 2008 Nov.
Article in English | MEDLINE | ID: mdl-19213493

ABSTRACT

AIM: To determinate factors that contribute to the steatosis's formation in chronic hepatitis B, to evaluate its influence on the development of hepatic fibrosis and to research an eventual relation to virologic factors in a Tunisian cohort of patients. METHODS: All patients with chronic hepatitis B confirmed by data of liver biopsy were included in this study, which was enrolled from 1990 to 2006. The studied parameters were: age, gender, body mass index, transaminases, cholesterol, triglycerides, glycaemia and DNA rate, status HBe antigen and the degree of activity and histological fibrosis was estimated according to the score of METAVIR. RESULTS: Fifteen patients (34.1%) among the 44 patients includes in this study had hepatic steatosis; that was mild in 10 patients (66.6%), moderate in 3 cases (20%) and severe in 2 patients (13.4%). The antigen HBe was negative in 27 patients (62.22%). The mean age of the patients having a steatosis was of 32.33 years versus 27.75 years for those who had no it (p=0.185). The transaminases rate was superior in patients with steatosis than those without, the difference was not significant. Univariate correlation between predictor variables was studied. Significant predictors to steatosis included body mass index (p=0.011) and cholesterol (p=0.037). HBe Ag status was not associated with steatosis. Neither activity nor fibrosis was correlated with steatosis. CONCLUSION: In Tunisian patients, factors contributing to the formation of steatosis during the chronic hepatitis B were the body mass index and the rate of cholesterol. The steatosis did not seem to have an influence on the development of the hepatic fibrosis and seems to be independent on the viral effect.


Subject(s)
Body Mass Index , Cholesterol/adverse effects , Fatty Liver/virology , Hepatitis B virus/isolation & purification , Hepatitis B, Chronic/complications , Liver Cirrhosis/virology , Adolescent , Adult , Cohort Studies , Fatty Liver/metabolism , Fatty Liver/pathology , Female , Hepatitis B, Chronic/metabolism , Hepatitis B, Chronic/pathology , Humans , Liver Cirrhosis/metabolism , Liver Cirrhosis/pathology , Male , Middle Aged , Risk Factors
15.
Tunis Med ; 85(11): 985-7, 2007 Nov.
Article in French | MEDLINE | ID: mdl-19166156

ABSTRACT

BACKGROUND: Sneddon-Wilkinson disease (SW) is chronic and benign disease belonging to the heterogeneous spectrum of neutrophilic diseases. It is characterised by flask, superficial, aseptic pustules, mainly involving the trunk, axilla and inguinal folds, favourably responsive to sulfones. AIM: We report an original case with an atypical clinical presentation and course. CASE REPORT: A 25-year old woman presented with an erythematous pustular eruption that had appeared one week before. Similar flare-ups were reported for 3 years. No drug intake history nor recent infection were reported. Physical examination showed superficial pustules mainly located on the face and limbs, lying on an erythematous skin and sometimes grouped in large plaques with a serpiginous disposition having a characteristic aspect of hypopyon pustule. A specimen taken from the pustules did not show bacterial or fungal infection. Histological examination of a biopsy specimen showed subcorneal pustules with a dermal peri-capillary neutrophilic infiltrate. Direct immuno-fluorescence was negative. No associated diseases were found. The patient was resistant to a 1 month treatment with dapsone (100 mg/day). Improvement was obtained with acitretin (25 mg/day) within 3 months. CONCLUSION: Our case has some specificities: cephalic involvement, resistance to dapsone and favourable outcome to a low dose of acitretin.


Subject(s)
Acitretin/therapeutic use , Extremities , Face , Keratolytic Agents/therapeutic use , Skin Diseases, Vesiculobullous/drug therapy , Skin Diseases, Vesiculobullous/pathology , Adult , Anti-Infective Agents/therapeutic use , Dapsone/therapeutic use , Diagnosis, Differential , Drug Therapy, Combination , Female , Humans , Skin Diseases, Vesiculobullous/diagnosis , Treatment Outcome
16.
Tunis Med ; 85(10): 902-5, 2007 Oct.
Article in French | MEDLINE | ID: mdl-18236818

ABSTRACT

BACKGROUND: Sarcoidosis is an ubiquity disease, which can infiltrate all tissues. The cutaneous and ophthalmologic thoracic localizations are most frequent. The nasosinusienne localisation is rare. AIM: The authors report their observations of 4 patients: 2 men and 2 women with a mean age 47.5 years (42-56). Theses cases was diagnosed and treated between january 1998 and December 2003 in the ENT service of the Habib Thameur hospital. CASES: The diagnosis was related to a nasal or a sinuses biopsy. The assessment of extension was negative in 3 cases. The corticoid treatment in local pulverization was sufficient in 2 cases. The corticoid treatment by systematic way was necessary among 2 patients. Favourable out look was obtained in all the cases. The naso sinusienne localization is rare, it is exceptionally isolated. The clinical and radiological symptoms are not specifics. Principal element of the diagnosis is the directed biopsy, easy in this localization.


Subject(s)
Nose Diseases/diagnosis , Paranasal Sinus Diseases/diagnosis , Sarcoidosis/diagnosis , Adult , Anti-Inflammatory Agents/therapeutic use , Diagnosis, Differential , Endoscopy , Female , Follow-Up Studies , Glucocorticoids/therapeutic use , Humans , Male , Middle Aged , Nasal Obstruction/diagnosis , Nasal Polyps/diagnosis , Prednisone/therapeutic use , Retrospective Studies
17.
Tunis Med ; 84(6): 340-3, 2006 Jun.
Article in French | MEDLINE | ID: mdl-17042205

ABSTRACT

It's a prospective study leaded between September 1997 and july 1999 (23 months ) in 75 patients with duodenal ulcer and positif for Helicobacter pylori. All patients had a first endoscopy with antral, fundic and duodenal biopsies, followed one month later by a second control fibroscopy with biopsies of the same sites. A total of 420 biopsies was realised. Chronic gastritis was evaluated according to sydney system. Patients was divided by randomisation in 4 groups. Every group was received a different therapeutic association. The results was conform to liberation concering activity 80%, intestinal metaplasia 12%. inflammation 100%. Atrophy was observed in 56% of cases, this percentage is variable in literature; chronic gastritis was predominant in antre relatively to fundus (p<0.005). After treatment, a significative fall of Helicobacter pylori and activity and atrophy was established, contrarity to intestinal metaplasia and chronic inflammation witch are persisted. The prevalence of follicular gastritis was 57%. The better rate of ulcer cicatrisation and Helicobacter pylori eradication was respectively of 79% and 66% in group 1 treated by omeprazol, amoxcillin, metronidazol by comparison with the others 3 groups (p<0.005).


Subject(s)
Duodenal Ulcer/pathology , Helicobacter Infections/drug therapy , Helicobacter pylori , Adult , Aged , Amoxicillin/administration & dosage , Amoxicillin/therapeutic use , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/therapeutic use , Anti-Infective Agents/administration & dosage , Anti-Infective Agents/therapeutic use , Anti-Ulcer Agents/administration & dosage , Anti-Ulcer Agents/therapeutic use , Biopsy , Duodenal Ulcer/complications , Duodenum/pathology , Female , Gastritis/pathology , Humans , Male , Metaplasia/pathology , Metronidazole/administration & dosage , Metronidazole/therapeutic use , Middle Aged , Omeprazole/administration & dosage , Omeprazole/therapeutic use , Prospective Studies , Stomach/pathology
18.
Tunis Med ; 84(2): 128-30, 2006 Feb.
Article in French | MEDLINE | ID: mdl-16755980

ABSTRACT

Peutz-Jeghers syndrome is a hereditary affection with dominant autosomal transmission. The risk of cancerisation is largely higher than that in the general population. Dysplasia is rare. Transformation of the polyposis hamartoma into a site of dysplasia then into adenocarcinoma has been rarely reported. The authors report the case of a 14 year-old patient, having a severe dysplasia on ileal polyposis hamartoma related to the syndrome of Peutz-Jeghers.


Subject(s)
Adenocarcinoma/complications , Ileal Neoplasms/complications , Peutz-Jeghers Syndrome/diagnosis , Adenocarcinoma/pathology , Adolescent , Humans , Ileal Neoplasms/pathology , Male , Peutz-Jeghers Syndrome/complications
20.
Tunis Med ; 82(6): 551-4, 2004 Jun.
Article in French | MEDLINE | ID: mdl-15517956

ABSTRACT

Angiomatoid fibrous histiocytoma is a rare tumour affecting young adults. Unlike conventional malignant fibrous histiocytoma, its extension is only local thus giving a good prognosis. We report the cases of a 9 year-old girl and a 16 year-old boy presenting respectively, with an axillary tumour 5 cm of diameter and a paravertebral subcutaneous tumour 1.5 cm of diameter. In both cases, the diagnosis was not initially suspected. The treatment consisted in surgical resection.


Subject(s)
Histiocytoma, Benign Fibrous/pathology , Adolescent , Child , Female , Humans , Male
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