Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.

BACKGROUND: Punctate palmoplantar keratoderma type I (PPPK-BFB), also called Buschke-Fischer-Brauer disease (MIM 148600) is a rare autosomal dominant disorder of keratinization, characterized by multiple hyperkeratotic lesions on the palms and soles. Recently, PPPK-BFB has been shown to be associated with mutations in the AAGAB gene in several families of European, African, Canadian and Asian origins. OBJECTIVE: To characterize the clinical and genetic features of PPPK-BFB in a broad group of Tunisian patients. METHODS: Epidemiological and clinical data were collected from 18 PPPK-BFB patients belonging to eight Tunisian families. We carried out mutational and structural analysis for families not previously investigated. RESULTS: Sequencing of the remaining families identified a total of three different mutations in AAGAB gene: one founder mutation (c.348_349delAG, p.R116Sfs*1) specific to the inbred Tunisian population, one recurrent mutation and (c.370C>T, p.R124*) one novel variant (c.430C>G, p.E144K). This novel mutation, involving a conserved amino acid, is predicted to be probably damaging to the p34 protein function. Assessment of the phenotypic presentation of this group of Tunisian patients was marked by variable severity and varying age at onset with a possible presence of anticipation noted in five out of eight families (62.5%). There is no apparent genotype-phenotype correlation. Despite the high degree of inbreeding, no homozygous individuals for AAGAB mutations were observed. Homozygous carriers in AAGAB gene are likely non-viable. CONCLUSION: This study contributes to further characterize PPPK-BFB in consanguineous families and to extend the mutational spectrum of AAGAB gene in the Tunisian population.

[Erythrasma: study of 16 cases].

BACKGROUND: Erythrasma is a chronic bacterial infection due to Corynebacterium minutissimum, affecting the interspaces of the toes, the axillary folds and the groin. Its impact is underestimated as it is often misdiagnosed ad wrongly taken as a dermatophytic infection. AIM: Through a hospital series, we report the epidemiologic and clinical features of erythrasma, as well as the therapeutic ways. methods: A retrospective study over a 20 year period and including the patients diagnosed as having erythrasma after a Wood's light examination. results: There were 16 patients (6 males and 10 females) with an average age of 44.6 years-old. The majority of our patients consulted on hot season. Clinical examination showed macular plaques with clear limits, erythematous in 6 cases and yellowish in the remaining cases. The lesions were located at the axillary folds in 13 cases; the groin in 2 cases and at all folds in one case. Treatment with erythromycin (topical or general administration) was the most prescribed. Outcome was generally favourable, but recurrences have been noticed. CONCLUSION: Erythrasma is a frequent misdiagnosed infection and often confused with a mycosis (especially in the interspaces of the toes); knowing that antimycotic agents are efficient in erythrasma. This is probably the reason of the small number of patients in our series.

[Extraneural soft tissue perineurioma of the nose]. / Périneuriome extraneural des tissus mous localisé au nez.

BACKGROUND: Perineuriomas are tumours derived from the perineurial cells of the neural sheath. Soft tissue perineuriomas are rare. Herein, we report a case of perineurioma localized to the nose. CASE REPORT: A 24-year-old adult presented with a cutaneous nodule 1cm in diameter localized on the nose. Histologically, the tumour corresponded to a well-circumscribed fusocellular dermal proliferation organized in a storiform pattern. After surgical removal, the lesion did not recur. COMMENTS: Extraneural soft tissue perineurioma is usually a benign nerve sheath tumour composed mainly of perineurial cells. Our case occurred in a 24-year-old Caucasian adult. The tumour generally presents as a unique cutaneous nodule corresponding histologically to a well-delineated dermal fusocellular proliferation organized in a storiform pattern that stains positive for EMA and negative for S100. The tumour is usually localized to the trunk and extremities. Location on the nose as in our patient has been rarely reported. Surgical removal of the tumour is the treatment of choice.

[Comparative characterization of skin lesions observed in the three endemic varieties of cutaneous leishmaniasis in Tunisia]. / Caractérisation comparative des trois formes de leishmaniose cutanée endémiques en Tunisie.

BACKGROUND: The recent spread in the geographical distribution of the three forms of cutaneous leishmaniasis (CL) endemic in Tunisia has resulted in the coexistence of more than one species of Leishmania (L.) in some foci, rendering characterization on the basis of geographical criteria alone more difficult. The aim of the study was to establish clinical criteria associated with these noso-geographic forms, namely sporadic CL (SCL) due to L. infantum, zoonotic CL (ZCL) due to L. major and chronic CL (CCL) due to L. tropica. PATIENTS AND METHODS: One hundred and twelve patients with biologically confirmed CL were involved in the study. Leishmania species was systematically identified by iso-enzyme analysis and/or PCR-RFLP. Details of the number, the location, the morphological aspect and the month of outbreak of the lesions were noted for each patient. RESULTS: SCL lesions appeared later than ZCL lesions (53.8% of cases appeared from December onwards vs. 23.6%, P<0.001). ZCL lesions were often multiple (75%) and situated on the limbs (84.7%, P<0.001), whereas SCL lesions were single (92.3%, P<0.001) and located on the face (84.6%, P<0.001). CCL lesions were also single (78.6%) and located on the face (71.4%). The classical ulcerous presentation with scabs was mainly observed in ZCL patients (69.4%) and the erythematous presentation was described more frequently in SCL patients (75%; P<0.001). CONCLUSION: The number, site, morphological aspect and month of outbreak of lesions could be considered as useful criteria that help differentiate between the three noso-geographical forms of CL prevailing in Tunisia. Such characterization is useful for the individual management of patients and for optimizing the combat against the disease.

Isolated genital annular lichen planus.

Annular lichen planus is a rarely reported variant of lichen planus (LP). Although genital lesions are frequent in patients with LP, isolated genital LP is rarely reported. We present a case of a 29-year- -old circumcised man with an asymptomatic annular lesion of the penis. Histopathological features were consistent with LP. Topical clobetasol was prescribed, with clinical improvement. It is important to consider annular LP among the possible diagnoses of individual annular genital lesions.

Adenolipoma of the skin.

Adenolipoma of the skin (ALS) is an uncommon histological variant of lipoma, characterized by the presence of normal eccrine sweat glands inside the fat proliferation. A 32-year-old woman presented to our department with a slow-growing, painless subcutaneous soft tumour located on the upper part of the right thigh. Microscopically, there was lobulated adipose tissue proliferation with well-differentiated eccrine glands and ducts in the periphery and centre of the nodule. These features were suggestive of ALS. ALS is a rare microscopic variant of cutaneous lipoma having similar clinical features to lipoma. The most frequent locations of this tumour are thighs (as in our patient), shoulders, chest and arms. Histologically, the tumour is composed of lobulated adipose tissue with larger and more prominent lobules than those in normal subcutaneous adipose tissue. A well-developed capsule may also be identified. Eccrine glands and ducts, without proliferative changes, are well-differentiated within the adipose tissue. Differential diagnosis of adenolipoma includes the common lipoma and its variants, skin tag and other hamartomatous lesions, such as nevus lipomatosus superficialis, and the lipomatous variant of eccrine angiomatous hamartoma.

[Contribution of the cryosurgery in the management of xeroderma pigmentosum]. / L'apport de la cryochirurgie dans la prise en charge du xeroderma pigmentosum.

BACKGROUND: Basal cell carcinoma (BCC) occurs frequently in young patients with xeroderma pigmentosum (XP). Because tumours are multiple and usually found on the face, alternatives to surgery are proposed. The purpose of this study was to evaluate the efficacy of cryosurgery for BCC in XP patients. PATIENTS AND METHODS: This was a retrospective study that included all instances of BCC occurring in XP patients treated by cryosurgery between January 2002 and October 2008. RESULTS: Forty-five cases of primary facial BCC and one case of relapsing BCC (16 on the cheeks, 11 on the nose, six on the face and five on the inner edge of the eye area) were treated by cryosurgery in 18 XP patients (average age: 18.7 years; sex ratio: 0.5). Mean carcinoma size was 10mm. Thirty-six tumours were nodular and 10 were nodular and ulcerated. Follow-up ranged from 16 to 60 months (mean: 30 months). Complications were rare. Cosmetic results were satisfactory. We noted 10 cases of hypopigmentation (21.7%) and one notch on the nose following treatment for recurrent BCC on a radiotherapy scar. Relapse occurred in one case (2.17%). CONCLUSION: Because of its simplicity, its good safety, its sparing of skin and its reliability of oncological outcome, cryosurgery is the treatment of choice for CBC in XP patients.

Atypical clinical appearance and localization of trichilemmoma. a case report.

Trichilemmoma is a benign cutaneous tumor that shows characteristics of differentiation similar to the outer hair sheath. We report the case of a woman presenting with a nodular tender mass of the back that was diagnosed as an isolated trichilemmoma. Several lines of evidence suggest that trichilemmoma should be considered in the differential diagnosis of any indistinct facial papule. This report documents a non-facial example of trichilemmoma. Atypical clinical appearance and localization of this neoplasm in our patient suggest that only histological findings are specific of this tumor.

[Pseudoxanthoma elasticum: a study of 22 cases]. / Le pseudoxanthome elastique: etude de 22 cas.

Pseudoxanthoma elasticum is a heritable connective-tissue disorder affecting the eye, skin, and vascular system. The aim of our study was to specify the epidemiological and clinical characteristics of this disease in a hospital series. A total of 22 patients were included during a period of 19 years. There were 15 women and 7 men. Patient's mean age was of 36,1 years. Parental inbreeding was reported in 10 cases. However, the parents were apparently healty. All patients exhibited cutaneous signs. The association between pseudoxanthoma elasticum and elastosis perforans serpiginosa was reported in two cases. The histological features were characteristic in all cases. The ophthalmologic examination realized on 13 patients revealed angioid streaks in 6 cases and a orange peel aspect in one case. Cardiac evaluation performed in 11 patients did not reveal specific PXE abnormalities. A follow-up was recommended in the majority of the cases. In conclusion, a family history of PXE was frequently reported in our study mainly among brothers and sisters. The disease was probably of autosomal recessive transmission. Cutaneous lesions were often the first signs. A list of laboratory investigations is useful to search for asymptomatic visceral localizations and specify their frequency.

Cutaneous metastases from internal cancers.

BACKGROUND: Cutaneous metastases (CMs) from carcinoma are relatively uncommon, being usually late events in the course of internal malignancies. CMs from internal tumors seen at a secondary dermatological centre in Tunis are reported. METHODS: A retrospective review of the available clinical records and histological material of all patients with CMs from internal malignancies was performed over a 14-year period. RESULTS: Fourteen cases of CMs were recorded: 8 males and 6 females. The age range was 53 to 96 years, with a mean of 63.5 years for males and 76.5 years for females. CMs represented the first indication of an internal malignancy in 64% of cases. Firm solitary or multiple nodules were the most relevant clinical presentation (93%). Preferred sites were the thorax (50%), the abdomen (29%), and the head and neck region (21%). The common sites of primary malignancy were the lungs (38%) in males and breast (33%) in females. Four out of 14 patients died within a short follow-up period (mean 9.5 months). DISCUSSION: CMs are relatively rare in patients with internal cancers, but they may be a presenting sign of such cancers.

[Adverse events related to systemic treatment using Glucantime for cutaneous leishmaniasis: a report from Tunisia]. / Effets indésirables du traitement systémique de la leishmaniose cutanée par Glucantime: expérience Tunisienne.

Glucantime is the firstline treatment for cutaneous leishmaniasis in Tunisia. Adverse effects related to systemic administration of Glucantime are frequent. The purpose of this retrospective study was to review the files of 53 patients who were treated for cutaneous leishmaniasis using meglumine antimoniate at a dose of 60 mg/kg/day for 15 days during the period between 1998 and 2007. Adverse effects were observed in 5 men and 4 women with an average age of 40.8 years. Antimony intolerance occurred in 8 patients and stibio-intoxication occurred in 4. Glucantime was considered as the most likely cause of adverse effects in 6 patients and as the plausible cause in 3 patients. Fever was the most frequent complication of antimony intolerance followed by cough, myalgia, and cutaneous lesions. Hepatic cytolysis was the most frequent sign of stibio-intoxication. Asymptomatic elevation of amylase level to 108 UI/l was observed in one case. The most serious complication was acute toxic kidney failure on the 15th day of treatment. The incidence of adverse events to Glucantime ranges from 16% to 59%. The most severe complication is acute renal failure on the 15th day of treatment, as observed in one patient in this series. Patient status must be monitored by performing laboratory tests at the beginning and end of the treatment. Since cutaneous leishmaniasis observed in Tunisia is a self-healing dermatosis that never results in sequels, treatment with Glucantime should be discontinued in any patient who develops suspicious symptoms.

[Late-occurring cutaneous vasculitis after successful treatment of diffuse lepromatous leprosy: Lucio's phenomenon]. / Vasculite cutanée a révélation tardive après guérison d'une lèpre lépromateuse diffuse: le phénomène de Lucio.

O Lucio's phenomenon is an uncommon type 2 reactional state occurring exclusively in patients with diffuse lepromatous leprosy (Lucio-Latapi leprosy). Previous case reports have been most frequent in Central America and rare in Asia and Africa. Lucio's phenomenon is characterized by necrotic ulcerations of the skin preferentially on the lower extremities usually in association with ongoing Lucio lepromatosis. The purpose of this report is to describe an unusual case of Lucio's phenomenon occurring four years after successful treatment of diffuse lepromatous leprosy. The patient was a 51-year-old man who had presented diffuse lepromatous leprosy ongoing since 1998. Diagnosis was documented based on histological and bacteriologic evidence. After successful treatment using dapsone (100 mg/d), rifadine (600 mg/month) and ethionamide (250 mg/d), the patient was lost from follow-up for 4 years. In January 2005, he consulted again for alteration of general status. Clinical examination showed inflammatory livedo on the lower extremities in association with several infiltrating maculo-papular lesions and painful erythemato-pupuric lesions on the legs and buttocks. The patient's skin was dry, shiny and galabrous with alopecia of the eyelashes and eyebrows. Examination of smear samples (skin and nasal) to identify mycobacterium leprae was negative. Histological study demonstrated epidermic necrosis with aspects of leucocytoclastic vasculitis. No Virchow cells were detected and Ziehl staining was negative. Search for circulating immune complexes and antiphospholipid antibodies was negative. Diagnosis of Lucio's phenomenon was made and the patient was treated using prednisone at a dose of 1 mg/kg/d in association with rifampicine (600 mg/month) and dapsone (100 mg/d). Outcome was favorable after one month of treatment. Lucio's phenomenon has rarely been observed in Tunisia. To our knowledge this is the third case reported from Tunisia and only 13 cases have been reported in the world since 1983. In all cases including the two from Tunisia, Lucio's phenomenon occurred during the course of treatment of ongoing Lucio-Latapi lepromatous leprosy (2). The remarkable features of our case are that Lucio's phenomenon occurred a long time after successful treatment of lepromatous leprosy and that the patient responded promptly to treatment. The pathogenesis of Lucio's phenomenon is often compared with that of erythema nodosum leprosum. Discussion focuses on pathophysiologic features and natural course of Lucio's phenomenon.

[Childhood cutaneous leishmaniasis in Tunisia: retrospective study of 60 cases]. / La leishmaniose cutanée de l'enfant en Tunisie: étude rétrospective de 60 cas.

Cutaneous leishmaniasis (CL) is a widespread parasitic disease that represents a major public health problem in several countries including Tunisia. The aim of this study was to determine the characteristics of childhood CL in a university hospital center in Tunis. The files of all children treated for of CL in the Dermatology Department of Habib Thameur Hospital over a 23-year period were reviewed. A total of 60 children were included. The mean age was 9.2 years and the sex ratio was 0.93. All patients lived or had stayed in an endemic area. Infectious risk was highest in autumn (41.6%). The most frequent clinical finding consisted of crusty nodules (53.3%) that were most often the only manifestation (63.3%) and usually located on the face (65%). Clinical diagnosis was confirmed by either peripheral blood smear (56.6%) or histological examination (35%). The treatment of choice was Glucantime administered by the intralesional route in 70% of patients or by intramuscular route in 30%. The outcome was favorable in all cases within 2 weeks to 6 months. Sequels were noted in 9 cases (18%) in the form of pigmented (7 cases) or atrophic (2 cases) residual scars. The frequency of childhood CL is relatively high especially during the second decade of life. Childhood CL is characterized by a generally favorable outcome and lack of distinguishing clinical characteristics form adult CL. If possible, therapeutic abstention is more widely in the children due to the high risk of adverse reactions.