Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

No abstract available.

[Severe childhood atopic dermatitis]

Atopic dermatitis [AD] is a chronic relapsing eczematous skin disease. It represents one of the symptoms of atopic diathesis. DA affects usually infants and children. The aim of our study is to draw up the epidemiological, clinical features, treatment and outcome of severe childhood AD through a hospital series. A retrospective study of 24 cases of severe childhood AD hospitalized in the Dermatology Department of La Rabta hospital of Tunis was conducted during a 28 year-period [1981 - 2009]. The hospital incidence of severe childhood AD was 0,085‰. Patient's mean age at the beginning was 14 months. The sex ratio H/F was 1.66. Cutaneous manifestations occurred preferentially in face [75%]. Generalized eczema was observed in 37.5% of cases. Pruritus and xerosis were constant. The mean duration of hospitalization was 11 days. Topical corticosteroids was the most effective method of treating severe DA, associated with antiseptic solutions emollient and antihistaminic drugs. Infectious complications were noted in 50% of cases. Ocular complications were observed in 16.7% of cases. Recurrences were reported in 9 cases. AD is an inflammatory, chronically relapsing, and pruritic skin disorder developing in a xerotic skin. Severe AD in childhood is rare in Tunisia. It requires a good understanding of therapeutic modalities by the patient and his family. It is a cause of important morbidity and it may have a bad impact on quality of life

[Squamous cell carcinoma of the lip: a report of 30 cases]

Squamous cell carcinoma [SCC] is one of the most common malignant tumors of the lips [90%]. The prognosis of these SCC seems to be poor thus here periorificial localization. To present the epidemiological, clinical, pathological, therapeutic features and out come of SCC of the lips. We conducted a retrospective study performed in the dermatology department of the La Rabta hospital of Tunis over a 11-year-period [2000-2010] recording patients with histologically confirmed SCC of lips. Thirty patients were included [26 men and 4 women] with an average age of 63 years. The most frequent risk factors were smoking and chronic sunlight exposure. The occurrence of the labial SCC on a precursor lesion was noted in 11 cases. It occurred more frequently on the lower lip [80%]. Tumor was ulcero-vegetant in 21 patients. Twenty patients had a commune SCC, 19 of them were well-differentiated. Surgery was indicated in 18 cases and 10 patients were treated by exclusive radiotherapy. Lymph nodes metastases were noted in 2 cases. No visceral metastasis was observed. During the period of follow-up [20.12 months], two patients died. The diagnosis of SCC of the lips is late and the treatment often mutilating. The improvement of the prognosis depends not only on the early diagnosis and the treatment of the precursors, but also on the photo protection and alcohol and smoking eviction

[Cutaneous carcinoma induced by radiotherapy: a report of 31 cases]

Depilatory radiotherapy was used in the sixties as a treatment for ringworm in Tunisia. Subsequently some of these patients developed radio-induced carcinomas of the scalp. To present the epidemiological, clinical, pathological, therapeutic features and out come of radio-induced cutaneous carcinomas. We conducted a retrospective study performed in the dermatology department of the La Rabta hospital of Tunis over a 6- year-period recording all histologically confirmed carcinomas in patients irradiated in childhood for tinea capitis. Thirty one patients were included with 49 tumors: 47 basal cell carcinomas and 2 squamous cell carcinomas. The average latent period between the irradiation and the appearance of the carcinomas was of 35.7 years. The average age was 53 years. A male predominance was noted, with a sex ratio M/F of 6.75. Clinically, basal cell carcinomas were nodular in all cases. Surgery was indicated in 90% of cases. Cryosurgery and radiotherapy were used respectively in 1 and 2 patients. Our study shows that radio-induced cutaneous carcinomas are widely dominated by basal cell carcinoma. They arise, approximately, ten years earlier than carcinoma in patients with no history of scalp irradiation. However X-ray exposure does not seem to influence clinical or histological presentation, therapeutic modalities nor prognosis of these tumors. The prognosis of radioinduced cutaneous carcinomas was globally similar to that of other cutaneous carcinomas with same histological type and equivalent degree of invasion

[Kaposi's disease: epidemiological, clinical, anatomopathological and therapeutic features in 75 patients]

Kaposi's sarcoma [KS] is a mutifocal angiogenic process characterized by cellular and vascular proliferation. To identify the epidemio-clinical, histological and therapeutic features of KS. Retrospective study of 75 cases of KS at the dermatology department of Rabta hospital in Tunis during a period of 25 years [1982-2007]. Three epidemio-clinical forms of KS were observed in our study: the classic KS [70 cases], the AIDS-related KS [4 cases] and the iatrogenic KS [1 case]. The mean age of our patients at diagnosis was 69.16 years with a sex ratio of 2.33. Elective site of cutaneous lesions in the classic KS was the limbs [87.1%]. The cephalic part was concerned in 17.1% of cases. Mucosal involvement was found in 28.5% of patients. Extra dermatological localizations of KS were observed in 32.9%. Our study identified some epidemio-clinical features of the classic KS especially the high frequency of mucosal and cephalic involvement as well as extra dermatological localizations. Thus further exploration is required even without alarm signs

Dermatologic manifestations in inflammatory bowel disease in Tunisia

Cutaneous manifestations are the most common extra intestinal manifestations associated with inflammatory bowel disease [IBD]. To assess the epidemio-clinical profile of skin manifestations in IBD. A prospective and descriptive study was conducted. We have examined skin, mucosa, hair and nails, of all patients with an IBD during one year. One hundred-ninety-five patients were included. Crohn's disease [CD] was noted in 154 cases [79.8%], ulcerous rectocolitis [UC] in 39 cases [21.2%] and inclassable IBD in 2 cases. Cutaneous manifestations were found in 91% of Crohn's patients and in 92% of UC patients. Granulomatous perianal skin lesions were the main cutaneous manifestations of CD [53%]. The most common affected sites were ano-perineal fistulae, perianal and perineal fissures and oedematous and infiltrated perianal and genital plaques. Reactive lesions [Erythema nodosum, Pyoderma gangrenosum, Aphthous stomatitis] were noted in 14 cases. Skin manifestations due to malabsorption were also frequently observed [101 cases: 51.7%].Other dermatoses implicating various mechanisms such as psoriasis, alopecia areata, vitiligo, rosacea, lichen planus, were also noted. Adverse skin manifestations due to treatment [folliculitis, acne, macula-papular rash and DRESS syndrome] were present in 16 cases. Our series is characterized by a high frequency of cutaneous manifestations associated to IBD. A better recognition of these skin manifestations by the physician may improve their management

[Immunogenetics of psoriasis: update]

Psoriasis is a chronic inflammatory skin disease often benign, affecting 2-3% of the total world population. Psoriasis is a multifactorial disease. To present recent advances in the immunologic mechanisms and susceptibility genes involved in the pathogenesis of psoriasis. We presented a literature review of recent genetic and immunological basis of psoriasis to better understand the pathomecanisms of this disease and discuss the contribution of the Tunisian work in this area. Recent works focalized mainly in immunology and genetics. Current progresses in molecular biology have allowed to better characterize the immunogenetic abnormalities in psoriasis. Psoriasis is a multifactorial disease model in which environmental factors [psychological, climate, traumatic, infectious, and viral] seem to be triggering factors when associated with a particular immunogenetics predisposition

[Erythrodermic psoriasis: epidemiological clinical and therapeutic features about 60 cases]

The erythrodermic psoriasis [EP] is a rare but severe form of psoriasis that may be potentially life-threatening. To study the characteristics of this severe form of psoriasis. We present a retrospective study, including all cases of EP followed in the dermatology department of the La Rabta hospital of Tunis over a 31-year-period from January, 1980 to June, 2010. Sixty patients were included, concerning 46 men and 14 women, with an average age of 53.7. A history of psoriasis was reported in 78% of the cases. A triggering factor was found in 53% of the cases. Systemic treatments were required in 55% of cases. An improvement was noted in 69.4% of the cases. A recurrence of the EP was observed in 15% of the cases. Three cases of sepicemia and one of stroke were noted. Erythrodermic psoriasis is the most common etiology of erythroderma. It represents more than half of severe psoriasis. As shown in our study it affects mainly adults' males. It complicates usually a common psoriasis. Septic and thromboembolic complications ones justify a close follow up

[Chronic urticaria: a report of 233 cases]

Chronic urticaria [CU] is a common condition. Usually benign, it can be debilitating. The main step was to identify the potential causes of CU to institute the strategy for management of patients. To present the epidemiological, clinical and therapeutic features of CU. 233 cases of CU were enrolled through a retrospective study conducted in the dermatology department of La Rabta hospital during 10 years [1997-2006]. The mean age of our patients was about 36 years with a sex ratio of 2.28. The mean duration of the CU before the consultation was 21 months. Inducing Factors were reported in 109 cases, dominated by physical factors [73 cases]. Severe symptoms as facial edema were observed in 44 cases. The CU was considered as idiopathic in 179 cases [77%]. An etiology was found in 54 cases, dominated by antihistaminic. Systemic corticoresteroids were associated in 41 patients. Partial improvement was the mainly outcome [166 cases]. CU is a frequent disease which the diagnosis is based on clinical exam. The causes of CU were numerous and sometimes intricate, that gives the etiologic courses difficult and usually disappointing

[Acute generalized exanthematous pustulosis. study of 22 cases]

Acute generalized exanthematous pustulosis [AGEP] is an uncommon but severe dermatosis, characterized by acute occurrence of fever, and erythemato-oedematous rash, covered by sterile nonfollicular pustules. Most cases of AGEP have been described in association with the intake of drugs. To determine clinical and prognostic features of AGEP in our patients. All cases of AGEP diagnosed between 1992 and 2007 according to EuroSCAR criteria have been collected. Twenty two patients [16 female, 6 male] with a mean age of 40.9 years [19-81] were included in the study. Clinical features showed in all cases an acute eruption with oedematous erythema, rapidly covered by nonfollicular pustules. The rash was mainly localized on big folds, trunk and/or limbs in 14 cases and generalized in 8 cases. A biological cytolysis was noted in 5 cases and a functional acute renal failure was objected in 2 cases. Etiological work up has found an association with the intake of drugs in 14 cases, a toxic cause [mercury] in 1 case and a B19 parvovirus infection in one case. The mean delay between drug intake and beginning of the eruption was 5 days [24 hours- 15 days]. Pharmacovigilance enquiry has concluded to a probable or plausible causality in all our cases. Clinical features improved with drug or toxic withdrawal with a mean delay of 7 days [4 -12 days]. A relapse of AGEP was observed in 2 cases after accidental introduction of the drug. AGEP is a cutaneous side effect not to ignore, because of its severe prognosis in case of systemic involvement and the possibility of relapses in case of retake of the causal drug

[Dermatologic disorders of the athlete: a report of 30 cases?]

Participation in athletic activities is associated with a variety of skin problems. We aimed to precise the most important sports related dermatoses in athletes. We conducted transversal study on 30 athletes of 2 teams: one of soccer's and the other of basketball players. For each athlete dermatological exam was practiced. 18 soccer players and 12 basketball players were enrolled; the mean age was about 25.3 years [18-35 years]. The results suggest that athletic activity seems to be a predisposing factor for cutaneous infections [87%] especially fungal infections [90%]. Traumatic lesions were also frequent in our athletes [20/30], dominated by calluses and nail disorders [80%]. Sports-related dermatoses include infections, traumatic entities, allergic contact dermatitis, environmental encounters, exacerbation of preexisting dermatoses, thus regular dermatological screening of athletes is critical for rapid identification and treatment of dermatoses distrusting sport performance

[Epidemiological and clinical features of juvenile vitiligo: about 106 cases]

Vitiligo is acquired circumscribed leukoerma. Half of all cases begin before the age of 20 years. Our study was to specify the epidemiological and clinical features of juvenile vitiligo [JV]. Through a retrospective study we collected all cases of vitiligo aged less than 16 years, followed during 9 years, between 1997 and 2005 in the Dermatology department of the la Rabta hospital. For every patient, we have focused the epidemiologic, clinical and therapeutic data. One hundred and six cases of JV were enrolled. The mean age was 10 years, with sex ratio [M/F] about 0.49. The mean duration of disease was about 1.5 years. A positive family history of vitiligo and autoimmune disease was noted respectively in 13.2%et 1.9%of our patients. Vulgaris presentation was observed in 53.77%of cases. More patients in our study were treated with topical steroid. There was a paucity of published data regarding JV, they reported some characteristics [female preponderance, higher incidence of family history of vitiligo, autoinimune and/or endocrine disease, increased segmental presentation]. Despite these features, it is premature to conclude that JV is a distinct subset of vitiligo

[Porokeratosis. A study about 6 cases]

Porokeratoses [PK] represent a less common group of dermatoses that are acquired or hereditary, of unknown pathogenesis, characterized b keratinization disorder. Different clinical forms have been identified and the most frequent are the Mibelli's porokeratosis [MP] and the Disseminated Superficial Actinic Prokeratosis [DSAP]. In this retrospective study, we analysed the observations of PK collected in the Dermatology Department of La Rabta Hospital over a 16-year period. Six cases of PK were collected: 4 females and 2 males, with no medical history with a mean-age of 42.7. Only a female patient had [PK] familial history. All our patients had typical clinical aspects with lesions in annular plaques, of atrophic center, surrounded by keratotic border. The histological aspect was consistent with PK, showing the typical cornoid slide. In our series, there are 3 cases of [MP] and 3 cases of [DSAP]. PK lesions usually appear during the childhood and the third and fourth decades for the DSAP. In MP, there is one or some large, unilateral, annular plaques. DSAP is characterized by numerous small annular lesions of the photo-exposed regions Their prognosis is on the whole, favourable but remains conditioned by malignant transformation. Treatment is difficult aiming at reducing that risk of degeneration

[Nasosinusal sarcoidosis: 2 cases. a report of 2 cases]

Nasosinusal sarcoidosis is a rare non caseating granulomatous disease. It may be inaugural, isolated or associated with multisystemic sarcoidosis. We report two cases of nasosinusal sarcoidosis associated to multisystemic sarcoidosis. Both patients were females aged over 43 years. In one case, the primary symptom was a nasal obstruction. Tomodensitometric and guided biopsy findings provided the main diagnostic criteria. Anti-malaric treatment was prescribed in both cases. Stabilisation of the lesions was noted. We tried to reveal through this study the diagnostic and therapeutic difficulties of nasosinusal sarcoidosis

[Pseudoxanthoma elasticum: a report of 11 cases]

Pseudoxanthoma elasticum [PXE] is an inherited disorder of elastic tissue with many systemic manifestations. We performed a retrospective study from all the patients diagnosed with PXE at the department of dermatology of La Rabat hospital of Tunis, between 1986 and 2003. During the observation period, we identified 11 patients with PXE, 5 males and 6 females with a mean age of 28 years [10-47 years]. Family history was found in 5 patients. Exhibit yellowish, pigskin, and popular lesions on the sides of the neck were observed in all cases. Systematic ophthalmologic examination revealed angioid streaks in 4 patients. No abnormalities were found in cardiovascular and metabolic explorations. Diagnosis of PXE is based on clinical, histological and genetic criteria. Ocular and cardiovascular damage make all the gravity of the disease, from where interest of an ophthalmologic and cardiovascular examination systematic