Xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a form of general dermatosis characterised by photo-induced cutaneous-ocular impairment and by skin cancers. In addition to these signs, there may also be neurological involvement. This disease is related to a defect in genes within the nucleotide excision repair system for the first seven genetic groups (A-G), and to an abnormality in transcription groups for the eighth group (xeroderma pigmentosum variant - XPV). Cutaneous carcinomas are the most common types of cancer seen. They may begin in childhood. Multiple melanoma commonly occurs during the course of XP but given the frequency of spontaneous regression, the incidence is underestimated. The clinical appearance is characterised by polymorphous lesions with characteristic dyschromia and in most cases it is sufficient to establish the diagnosis. Investigation of unscheduled DNA synthesis (UDS) and cell survival following ultraviolet (UV) radiation were formerly considered the reference examination for laboratory diagnosis. However, these tests are now being replaced by new molecular biology techniques to screen for the genetic mutations characteristic of the disease. These techniques have proved extremely useful in identifying heterozygous patients and in antenatal diagnosis. Photoprotection is the key preventive measure: patients must avoid all exposure to the sun and to artificial sources of UV radiation. The therapeutic arsenal has recently been enriched by several modern therapeutic methods used to destroy cutaneous tumours such as imiquimod and photodynamic therapy (PDT). These approaches are valuable since they eliminate incipient tumours while sparing healthy skin. Surgery and cryosurgery are the most suitable methods for treating cutaneous tumours in children. Chemotherapy may be considered an alternative for the treatment of keratoacanthomas and squamous cell carcinomas (SCC). Cryosurgery may be combined with other therapeutic approaches to eliminate SCC of the lip. Management of these patients in reference centres, coupled with assistance from associations providing support for patients' families, has resulted in improved quality of therapy while slowing down disease progression.

Papillary haemangioma: a case report of multiple facial location.

Papillary haemangiomas were recently defined as morphologically distinct and benign cutaneous haemangiomas showing a predominantly intravascular capillary proliferation within dilated thin-walled dermal blood vessels. We describe the case of a 45-year-old woman who presented with multiple eruptive red-bluish raised papules and nodules distributed over the skin of the chin that were related to a papillary haemangioma.

A multicenter, randomized, open-label, controlled study comparing the efficacy, safety and cost-effectiveness of a sequential therapy with RV4104A ointment, ciclopiroxolamine cream and ciclopirox film-forming solution with amorolfine nail lacquer alone in dermatophytic onychomycosis.

BACKGROUND: The efficacy of topical antifungals is controversial. OBJECTIVE: To compare the efficacy and safety of a sequential(SEQ) treatment with chemical nail avulsion and topical antifungals to amorolfine nail lacquer in dermatophytic onychomycosis. METHODS: This was a randomized,parallel-group, controlled study comparing a 36-week SEQ treatment with chemical nail avulsion with RV4104A ointment(class I medical device containing 40% urea) followed by ciclopirox cream for 8 weeks and ciclopirox nail lacquer for 25 weeks (SEQ group) to amorolfine nail lacquer for 36 weeks (AMO group). Patients had to have a big toenail onychomycosis,sparing the matrix. The primary efficacy criterion was complete cure at week 48. A cost-effectiveness analysis was performed. RESULTS: A total of 142 patients were randomized. The complete cure rate at week 48 was significantly higher in the SEQ group than in the AMO group (36.6 vs. 12.7%, p = 0.001). Clinical cure at week 48 was observed in 53.5% of patients in the SEQ group versus 17% in the AMO group (p < 0.01). The cost of cure per patient was 50% lower with SEQ treatment (EUR 33) compared with amorolfine(EUR 76). CONCLUSION: A treatment of onychomycosis comprising chemical avulsion of the pathological nail, ciclopirox cream and nail lacquer is significantly more effective than amorolfine nail lacquer.

Pinkus tumour: an unusual case.

Fibroepithelioma of Pinkus is a rare cutaneous tumour. Its classification is controversial and is considered as a variant of either basal cell carcinoma or trichoblastoma. Its presentation as a multiple tumour is rare. We are reporting such a case occurring in a 55-year-old man presenting with multiple seborrheic keratosis-like lesions corresponding histologically to Pinkus tumours. The clinical diagnosis of Pinkus tumour represents a challenge. Histological examination is extremely useful in aiding in the diagnosis of difficult cases.

The course and prognosis of pemphigus in 47 Tunisian patients.

BACKGROUND: Pemphigus is a severe and life-threatening autoimmune bullous dermatosis. OBJECTIVE: We have analysed parameters that may influence prognosis of pemphigus (P). METHODS: It was a retrospective study (2002-2010), with pemphigus considered as severe if body surface involvement ≥ 30%. Disease control and relapse-free survival (Kaplan-Meier) were analysed and compared according to several parameters (P < 0.05). RESULTS: 47 cases of pemphigus were collected, mean age 51 years ± 16.8 (F/H = 3.27). There were 30 pemphigus profundus and 17 superficial pemphigus. The median remission period was of 9 months (1.2 months-5 years). The mean healing time was of 40 days (6 days-4 months), which did not depend on type of P, its severity or infectious complications, whereas it was shorter in aged patient (≥ 65 years) compared to non aged ones (P = 0.018). 36.2% of patients had relapsed. Relapses were significantly more frequently observed only in the presence of mucosal involvement at presentation (P = 0.015). The median overall 1st relapse-free survival was of 2.33 years. Only mucosal involvement at presentation was associated with a shorter median 1st relapse-free survival time (1.28 years vs. 3 years) (P = 0.0017). Mortality rate was of 10.6% (n = 5); in four patients the death was directly related to pemphigus and occurred rapidly after the onset of lesions. CONCLUSION: Our study illustrates the poor prognosis of pemphigus by a long duration to disease control, a high initial dose of oral steroid, a high rate of relapse and a short remission period. Only mucosal involvement at presentation was identified as a poor prognostic factor.

[Autoimmune progesterone dermatitis]. / Dermatose auto-immune à la progestérone.

BACKGROUND: Autoimmune progesterone dermatitis (AIPD) is caused by an immune reaction to endogenous progesterone following exposure to exogenous progesterone, especially in oral contraceptives and intrauterine devices. Skin eruption develops cyclically during the luteal phase of the menstrual cycle when progesterone levels are elevated. The resultant clinical symptoms are frequently confused with other forms of dermatosis. We describe a young woman presenting AIPD. PATIENTS AND METHODS: A 23-year-old woman had a history of a chronic pruritic papular-vesicular eruption on the trunk, present since the onset of puberty and unsuccessfully treated with antihistamines and topical steroids. Skin lesions normally began a few days before menstruation and resolved a few days afterwards. Intradermal testing using progesterone was positive, thereby confirming the diagnosis. The patient's skin lesions improved under oral contraceptives designed to inhibit ovulation and there was no relapse during subsequent menstrual cycles. DISCUSSION: AIPD is a rare autoimmune disorder. The diagnostic criteria of AIPD include recurrent cyclical worsening of skin lesions and symptomatic improvement after inhibition of progesterone secretion by suppression of ovulation. The pathogenesis is unclear. Positive response to various tests with progesterone suggests involvement of various mechanisms such as antibodies and/or cell-mediated immune reactions. CONCLUSION: AIPD is a rare disease that can seriously affect patients' quality of life and which may even be life-threatening in certain cases.

Epidemiological and etiological study of foot mycosis in Tunisia.

BACKGROUND: Tinea pedis and onychomycosis are among the commonest fungal diseases in the world. Recently, there has been an increase in the numbers of fungal agents implicated in these conditions. OBJECTIVE: To analyze the epidemiology of fungal foot diseases and to identify associated etiological factors in outpatients attending the Department of Dermatology of Charles Nicolle Hospital in Tunis, Tunisia. PATIENTS AND METHODS: One hundred and forty eight patients were assessed for the presence of fungal foot diseases during the period between January and April 2009. The mean age was 41.5 years (range: 2-87 years) and sex ratio was 0.8. A complete dermatological examination was performed on all subjects, and specimens of the feet were taken from patients presenting signs of tinea pedis or onychomycosis for microscopy and fungal culture. RESULTS: Fungal foot infection was suspected in 71 subjects, and the diagnosis was confirmed in 67 cases (45.3%) by positive microscopy or culture. Older age and family history of mycosis were predisposing factors for foot fungal infection. The condition was caused by dermatophytes in 57.1% of cases and Candida species in 35.7%. Trichophyton rubrum and Candida parapsilosis were the predominant dermatophyte and yeast species, respectively.

Malignant proliferating trichilemmal cyst of the scalp: histological aspects and nosology.

BACKGROUND: Malignant proliferating trichilemmal cyst is a rare tumour usually located on the scalp of elderly women. About 40 cases of malignant proliferating trichilemmal tumour have been documented. CASE REPORT: We report a case of a malignant proliferating trichilemmal cyst of the scalp in a 57-year-old woman. On the vertex she had a voluminous vegetated and multinodular tumour measuring 7 x 5 cm with spontaneous and abundant bleeding, and another lesion of the scalp corresponding to a trichilemmal cyst. Based on histopathological findings, the case was diagnosed as malignant proliferating trichilemmal cyst. CONCLUSION: Diagnostic, clinicoprognostic and histological features of this tumour are discussed. Treatment is not yet standardized given its rarity.

[Pyoderma gangrenosum: 6 cases]. / Le pyoderma gangrenosum: à propos de 6 observations.

Pyoderma gangrenosum (PG) is an uncommon extensive cutaneous ulceration belonging to the neutrophilic disease spectrum. It is associated to a systemic disease in almost 50% of cases. The diagnosis primarily relies on clinico-pathological features and the treatment is empirical. We report a retrospective series of 6 observations of PG (4 women and 2 men, median age = 43 years) enrolled over 15 years. The diagnosis was established based on the presence of 2 major criteria and 2 minor criteria of the disease. In 3 patients, PG was associated to an already known ulcerative colitis. The treatment consisted in general corticotherapy.

[Leg ulcers are rare in Tunisian women]. / Les ulcères de jambes sont rares chez la femme tunisienne.

Numerous reports from Tunisia and Morocco have underlined the low frequency of leg ulcers in women from the Maghreb region in comparison with European women. This retrospective study describes patients hospitalized for leg ulcers in the Dermatology Department of Charles Nicolle Hospital in Tunis between January 1995 and December 2005. A total of 134 patients including 107 men and 27 women (M/F sex-ratio: 3.96) were hospitalized for leg ulcers. Venous leg ulcer was the most common accounting for 54.5% of cases overall, 57% of cases in men and 33.3% of cases in women (p = 0.028).

[Evaluation of the role of dietary intake in the occurrence of alopecia]. / Evaluation du rôle des apports alimentaires dans la survenue d'une alopécie diffuse.

Transversal case-control study was conducted among 42 patients aged between 20 and 35 years who had diffuse alopecia. Alimentary inquiry according to the 3-day method was achieved in each case. The following nutriments were evaluated: total proteins, calcium, copper, iron, iodine, magnesium, manganese, phosphorus, potassium, selenium, zinc, omega 3 and omega 6. A control group (composed of 230 individuals), matched for age, gender and metabolic profile was established. These persons did not suffer from hair and nail disorder. The nutriments were codified according to the data of the software Food processor 8.3 version. The data were analyzed using "SPSS" 11.5 version. Comparisons of the means were performed using the Student's t test. ROC graphics allowed to determine the statistically significative limits for the comparison of both groups. On multivariate analysis, only a protein intake was directly associated to alopecia, odds ratio of 1,5 (1,06 - 2,3) p=0,02.

Acquired erythroderma in adults: a clinical and prognostic study.

BACKGROUND: Erythroderma is a severe syndrome and prognostic studies are rare in the literature. OBJECTIVES: Through a retrospective study of erythroderma in adults, we have analysed epidemiological and clinical data and precised the relevant aetiologies and survival in our patients. METHODS: This study was performed at the Department of Dermatology of Charles Nicolle Hospital of Tunis (1995-2007) including 82 cases of acquired erythroderma (>16 years). We have recorded epidemio-clinical, biological and histological data, treatment and outcome. Clinical-histological correlation was analysed [kappa coefficient (kappa)]. Follow-up time and disease-free survival time were calculated as were Kaplan-Meier estimates of overall survival and relapse-free survival for some aetiologies. RESULTS: Erythroderma represented 0.44 per thousand of all dermatoses with an age of 55.13 +/- 18.16 and no sex predilection. Psoriasis was the predominant aetiology (32.9%) with a median duration of 6.75 years and previous one or more episodes of erythroderma. Psoriasis was significantly associated with pruritus (P = 0.0001), pachyonychia (P = 0.00001), palmoplantar keratoderma (P = 0.0001) and hypereosinophilia (P = 0.008). The latter is then not specific for drug induced erythroderma (P = 0.004). Carbamazepine (27.8%) and penicillin (22.2%) were the most implicated drugs. Positive Clinical-histological correlation was found in 77% of cases (kappa = 0.753). Relapse was seen in all aetiologies, but drug reactions and had occurred in the first 3 years in 90% of them. Mortality rate was 11.3 per 1000 patients-years. CONCLUSIONS: Our study illustrates the severity of erythroderma. It alters heavily the quality of life of patients which is initially altered by the pre-existent dermatosis. It may be life threatening as mortality rate is high.

Primary amelanotic anorectal melanoma: an uncommon neoplasia with poor prognosis.

BACKGROUND: Anorectal melanoma is a rare and aggressive mucosal cancer. There is usually a delay in diagnosis because about 30% of these cancers are amelanotic and are often mistaken for benign conditions. Herein, we report a case of amelanotic anorectal malignant melanoma with an unusual metastatic deposit in the vulva and also review the literature. CASE REPORT: A 67-year-old woman presented with a history of prolapse of an anal tumour. Clinical examination showed a pedunculated and ulcerated amelanotic tumour associated with three other nodules, 1 cm in diameter, localized in the vulval mucosa. A left inguinal node was palpable. Histological examination and immunohistochemical staining of all tumours demonstrated malignant melanoma. Radiological diagnostic procedures revealed no evidence of metastases. DISCUSSION: Nine cases of amelanotic malignant melanoma have been reported in the literature. The age at diagnosis ranged from 45 to 77 years. Females appear to be far more frequently involved than males (F/M = 7/2). Anorectal melanoma is most common in the rectum, followed by the anal canal. Metastases occur early. Our case is the tenth case of amelanotic anorectal melanoma and probably corresponds to multiple synchronous primary melanomas of the anorectal region and the vulva, with the possibility that one of the lesions is a primary melanoma and the others are satellite lesions. Wide local excision where negative margins can be achieved is the preferred treatment.