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ABSTRACT: Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 gene encoding transglutaminase-1 are a major cause of LI. In this study molecular analysis of two LI Tunisian patients revealed a common nonsense c.788G>A mutation in TGM1 gene. The identification of a cluster of LI pedigrees carrying the c.788G>A mutation in a specific area raises the question of the origin of this mutation from a common ancestor. We carried out a haplotype-based analysis by way of genotyping 4 microsatellite markers and 8 SNPs flanking and within the TGM1 gene spanning a region of 6 Mb. Haplotype reconstruction from genotypes of all members of the affected pedigrees indicated that all carriers for the mutation c.788G>A harbored the same haplotype, indicating common ancestor. The finding of a founder effect in a rare disease is essential for the genetic diagnosis and the genetic counselling of affected LI pedigrees in Tunisia.
Molecular Biology Reports 11/2012; · 2.93 Impact Factor
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ABSTRACT: Leishmaniasis is a zoonotic infection acquired through the bite of a female sandfly, which introduces the amastigotes of Leishmania into the bloodstream. Cutaneous leishmaniasis is rare after solid organ transplantation. Its diagnosis is difficult in immunosuppressed patients. We report a case of isolated cutaneous leishmaniasis in a renal transplant patient resident in an endemic area. The patient was successfully treated with allopurinol and fluconazole and has remained relapse-free for 44 months. The diagnosis of cutaneous leishmaniasis must be considered in immunosuppressed patients living in endemic areas. Our report shows that cutaneous leishmaniasis may complicate the clinical course of kidney transplant recipients and its presentation can be atypical. Conventional treatment with pentavalent antimonial agents can cause many side effects; of particular concern in renal transplant patients are pancreatitis and nephrotoxicity. These latter may be avoided by using a combination of allopurinol and fluconazole.
Annals of Saudi medicine 07/2012; · 1.07 Impact Factor
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ABSTRACT: Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years. RESULTS: Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal. CONCLUSION: Bloom's syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory.
Journal of Dermatological Case Reports 03/2012; 6(1):29-33.
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La Presse Médicale 01/2012; 41(10):1041-2. · 0.67 Impact Factor
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La Presse Médicale 10/2011; 41(6 Pt 1):669-71. · 0.67 Impact Factor
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La Revue du praticien 10/2011; 61(8):1060.
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ABSTRACT: Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome.
Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed.
The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.
Journal of Dermatological Case Reports 03/2011; 5(1):8-13.
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ABSTRACT: Recessive dystrophic epidermolysis bullosa (RDEB), an autosomal-recessive genodermatosis, is one of the more severe forms of the epidermolysis bullosa dystrophica group, and is characterized by generalized blistering of the skin and mucous membranes. Cutaneous squamous cell carcinoma is one of the most serious complications of this disease.
We report four patients (three females and one male), two of whom were under 20 years of age, suffering from RDEB-Hallopeau-Siemens.
All patients developed well-differentiated squamous cell carcinoma. No metastases were detected. All cases were treated surgically. Fatal evolution was noted in one patient. A second tumor was detected in another patient during the follow-up period. No further tumors or metastases were observed in the other patients.
Regular clinical and histologic examination of any nodular lesions or non healing ulcers of all patients suffering from RDEB-Hallopeau-Siemens to detect an early malignancy is recommended.
International journal of dermatology 07/2009; 48(6):588-91. · 1.18 Impact Factor
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La Presse Médicale 10/2008; 37(10):1512-3. · 0.67 Impact Factor
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Abderrahmen Masmoudi,
Sonia Boudaya,
Amel Charfeddine,
Anis Dammak,
Mariem Amouri,
Abdelmajid Khabir,
Sleheddine Marrekchi,
Samir Bouassida,
Tahia Sallemi,
Mohamed Salah Krichen,
Hamida Turki,
Abdelmajid Zahaf
International journal of dermatology 03/2008; 47(2):134-6. · 1.18 Impact Factor
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ABSTRACT: Zoonotic cutaneous leishmaniasis (CL) is characterised by a major clinical polymorphism, especially the lupoid type. The aim of our study was to precise the anatomic and clinical particularities of this clinical form of CL.
The present work was a prospective 1-year study. In all patients, the epidemiologic and clinical characteristics were identified, together with those regarding disease progression. Standard cutaneous biopsies were carried out for all study patients.
The lupoid form was observed in 15% of the patients. It was clinically characterised by a lupoid aspect with papular and squamous placard surrounded by a satellite papule, a short duration of disease progression (28 months in average) and a preferential localisation at the level of the face and the elbow, statistically proven. At the histological level, epidermic hyperplasia was found in 93.8% of the cases; an inflammatory polymorphic dermic infiltrate consisting of lymphocytes and plasmocytes was found in all patients; granulomas were noted in 50% of the cases, and isolated epitheloid cells were observed in the derm of 3 patients. Amastigotes were rarely observed.
In our series, the lupoid form was characterised with a short and non chronic evolution and two preferential sites for the affection: the face and the elbow. At the histological level, the lupoid type of CL appeared characterized by a high frequency of granuloma, usually organized, and rare amastigotes. However, the histology of authentic lupoid forms can be non granolomatosic.
La Presse Médicale 01/2008; 36(12 Pt 1):1738-42. · 0.67 Impact Factor
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ABSTRACT: Atopic dermatitis (AD) is the collection of the cutaneous inflammatory manifestations which are chronic or repetitive associated with the other atopic diseases. The prevalence of the AD varies from one country to another.
The aims of this work in to study the allergolicol, clinical and epidemiological profile of the AD in the south of Tunisia.
our study is prospective about 100 cases reported in a period of 18 months. The diagnostic was carried on the criteria of Hanifin and Radjka. For every patient we studied the biographical data and the clinical manifestations of AD. Allergoloigical explorations (pricks-tests) were carried out.
the overage of the patients was 104 months with extremes of 5 moths and 43 years. 65 % of our patients were men. At the beginning the average was 61 months with extremes of 2 months and 37 years. 55 patients had antecedents of family allergy and 34 had antecedents of personal allergy. The former preceded the AD in 28 cases. We didn't note any significant relation between the existence of familial allergy and the severity of the AD. In the statement, the principal factor was the contact with the house dust (33 cases), the duration of maternal breastfeeding (overage 13.7 months) didn't influence neither the SCORAD, nor the beginning age of the AD. The date of beginning of food diversity (overage 6.16 months) didn't significantly influence the severity of the illness. The clinical aspect was a sharp eczema in 71% of the cases according. To the SCORAD score. The AD was judged to be weak in 5 cases, moderate in 68 cases and severe in 27 cases. The number of rise per year varied from one rise (75 cases), to more then 6 rises per year (6 cases). The evolution was chronic in 6 cases. The pricks test showed to be positive for the accariens in the group of aeroallergen in 9 cases among the 35 cases tested, and positive for the whole egg in the group of trophallergen in 5 cases among the 13 cases tested.
La Tunisie médicale 09/2007; 85(8):679-83.
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ABSTRACT: Sweet syndrome is the most common neutrophilic dermatosis. We studied its natural history and epidemiologic, clinical, and therapeutic characteristics from a series of 54 cases.
This retrospective study examines 54 cases collected over a 10-year-period. Diagnosis was based on clinical and histological criteria.
Patients' mean age was 47 years. The sex ratio was 8 women for every man. Disease developed most often in autumn and onset was sudden in all patients. Untypical aspects were found in 20 patients. Lesions were located mainly on the arms (43 cases) and legs (33 cases). No mucous membrane involvement was observed. Histological testing found leukocytoclastic vasculitis in 8 cases. Sweet syndrome was idiopathic for 38 patients. Lesions began at the site of previous trauma for 9 patients, occurred during pregnancy for 2, and were associated with cancer for 3. First-line treatment was colchicine for 23 patients and oral steroids for 12. Six patients had recurrences and 2 patients had relapses.
This large series of patients with Sweet syndrome differs from other reports by the frequency of untypical aspects and post-traumatic forms, as well as the rarity of association with cancer. Histological findings of vasculitis do not rule out a diagnosis of Sweet syndrome.
La Presse Médicale 04/2007; 36(3 Pt 1):419-24. · 0.67 Impact Factor
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ABSTRACT: Lymphangiomas are rare benign proliferations of the lymphatic system. Acquired lymphangioma circumscriptum of the vulva is induced by impaired lymph flow. We describe a new case of lymphangioma circumscriptum resulting from tuberculosis involving a lymph node. A 45-year-old female presented with swelling of the vulva for the past 8 years. She had a history of multiple left inguinal swellings successfully treated with four antituberculosis drugs. Her vulval swelling did not respond and was diagnosed as acquired lymphangioma circumscriptum. She becomes the fifth reported case of acquired lymphangioma circumscriptum of the vulva with tubercular lymphadenitis. The single antituberculosis treatment is insufficient to control lymphangioma. Ablative methods seem encouraging.
Dermatology online journal 02/2007; 13(4):10.
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ABSTRACT: Lipoid proteinosis (LP), also known as hyalinosis (or lipoidosis) cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive disorder. It is associated with deposits of protein-lipid complexes in various tissues including the skin and mucous membranes. Ophthalmologic manifestations are frequent and can affect visual prognosis.
This 28-year-old patient presented vesiculobullous lesions of the face that developed into varioloid scars associated with hoarseness. Ophthalmologic examination revealed unilateral lesions including hyaline deposits on the palpebral margins, iris, and trabecular zone, complicated by uveitis, cataract, and glaucoma, which caused the functional loss of the left eye. Histological examination of a cutaneous biopsy confirmed the diagnosis.
Involvement of the eyelids is characteristic, and moniliform blepharosis is pathognomonic and frequent. This case featured a rare intraocular form (uveitis). Deposits may be found on the conjunctiva, cornea, trabecula and Bruch membrane. Conjunctival or cutaneous biopsy confirms the diagnosis. Available treatment is quite limited.
La Presse Médicale 06/2006; 35(5 Pt 1):796-8. · 0.67 Impact Factor
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ABSTRACT: Chronic hemodialysis patients experience frequent and varied cutaneous manifestations, of often hypothetical pathogenesis. The aim of this work is to assess the prevalence and nature of these cutaneous lesions and discuss some pathogenic mechanisms.
This prospective study was conducted from 1 February through 30 April 1996. It included 363 hemodialysis patients in seven centers. Each patient was interviewed and examined.
There were 210 men and 153 women. Their mean age was 50.6 years. The total duration of hemodialysis ranged from 1 to 192 months, with a mean of 52.4 months. 88% of the patients had cutaneous manifestations. Pruritus was reported by 44.8%. It appeared after hemodialysis began for 82.1% of them. Cutaneous xerosis was observed in 69%. Changes in pigmentation were observed in 17% of cases, primarily involving hyperpigmentation of photo-exposed areas. In 6 patients, skin, hair, and exoskeleton began to turn lighter 10 months to 8 years after hemodialysis. Follicular hyperkeratosis was observed in 15%. One patient had a confirmed case of perforating follicular dermatosis. Disorders of the exoskeleton (18.5% of cases) were represented mainly by thin nails and subungual hemorrhages. Other cutaneous manifestations included petechiae and ecchymoses (66%), folliculitis-type infections (9%), subcutaneous calcifications (2 cases), cutaneous pseudoporphyria (2 cases), and eczema around the fistula (11.5%), due essentially to locally-applied products.
Cutaneous manifestations in chronic hemodialysis patients are frequent and polymorphous. While most have long been known, lightening of skin, in particular, others have been discovered more recently. Their pathogenesis is most often poorly elucidated. Treatment is often symptomatic. Dialysis and renal transplantation constitute the best treatment.
La Presse Médicale 04/2006; 35(3 Pt 1):399-406. · 0.67 Impact Factor
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Abderrahmen Masmoudi,
Wafa Abdelmaksoud,
Samir Bouassida,
Abdelmajid Khabir,
Amel Charfeddine,
Hela Fourati,
Tahia Boudawara,
Sofiane Baklouti,
Mohamed Krichen,
Hamida Turki,
Abdelmajid Zahaf
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ABSTRACT: Involvement of the skin in Crohn's disease is rare. We report the case of a young woman presenting cutaneous nodules revealing a Crohn's disease.
R. K. a 19 year old woman was admitted the impatient clinic for a 2 week history of nodular lesions of the extremities. Simultaneously, she had watery diarrhoea and abdominal pain associated with a bad general condition and fever. Skin examination showed ulcerated lesions with a non infiltrated inflammatory bader of the left food and the right calf associated with an abscess of the left forearm. Skin biopsy showed an inflammatory infiltrate of the deep dermis with tuberculoid noncaseating granulomas. Colonoscopy demonstrated multiple ulcers, a "globlestone appearance" of the glow and segmental glitis. Colonoscopy was followed by a peritonitis which made steroid therapy questionable. Meanwhile, the patient underwent a colonostomy and was fed intravenously, the skin lesions resolved. A follow up colonoscopy demonstrated colon polyps, and the biopsy of the colon showed features of colitis and "follicular" duodenitis which was in concordance with the diagnosis of Crohn's disease.
Usually, cutaneous lesions in Crohn's disease are consistent with nodules and granulomatous fissures of the grain. Involvement of the mucosa is rare. We report the case of "metastatic" localisation of nodular abscesses in Corhn disease. Improvement of cutaneous lesions might be explained by the nonuse of the digestive track allowed by the parenteral supplementation.
La Presse Médicale 03/2006; 35(2 Pt 1):230-2. · 0.67 Impact Factor
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Thérapie 62(1):68-9. · 0.30 Impact Factor
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Thérapie 63(2):149-52. · 0.30 Impact Factor
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http://dx.doi.org/10.2515/therapie:2006088.
