Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients.

BACKGROUND: Epidemiological features and trends of cutaneous melanoma (CM) in North-African populations remain unclear. Those populations are of particular interest as they belong to a mosaic of various other origins (sub-Saharan, European Ancestry, and North-African Berbers). The aim of this study is to draw epidemiological profile and clinicopathological features of CM in the Tunisian population. METHODS: Incidence analyses were based on data from regional cancer registries. Clinical data were collected from dermatological departments and xeroderma pigmentosum (XP) referral centers and provided CM clinicopathological characteristics and progression. Statistical analyses were achieved using R packages and SPSS 20.0. RESULTS: The incidence of CM in Tunisia is relatively low (0.5-0.7 per 100,000 inhabitants per year). Gender differences were observed regarding anatomical distribution (P = 0.004). Acral lentiginous melanoma (ALM) was the most frequent histological subtype (32.3%); however, nodular melanoma (NM) was the most aggressive and responsible for 54.8% of deaths. CM in XP patients develops at a median age that is 42 years earlier than sporadic cases, with preferential localization on the head and neck (P < 0.001). Finally, male patients exhibited survival disadvantages compared with females (adjusted hazard ratio (HR) = 2.22, 95% CI: 1.05-4.68, P = 0.037). CONCLUSIONS: Cutaneous melanoma features in Tunisia are closer to those of non-Caucasians, even though gender differences that are similar to those observed in Caucasians were uncovered. This study also emphasizes the aggressiveness of NM and its effect on melanoma patient deaths. Xeroderma pigmentosum stands as the major predisposing host factor.

IgA pemphigus showing IgA antibodies to desmoglein 1 and 3.

BACKGROUND: IgA pemphigus is a rare autoimmune vesiculo-pustular skin disease. Only approximately 70 cases have been reported to date. We report a case of IgA pemphigus with IgA antibodies to desmoglein 1 (Dsg1) and desmoglein 3 (Dsg3). CASE REPORT: We report the case of an 60-year-old man with intraepidermal neutrophilic IgA pemphigus with IgA antibodies to Dsg1 and Dsg3. Histologic examination revealed subcorneal neutrophilic pustules with few acantholytic cells. The disease was not effectively controlled by conventional therapeutic regimens (colchicine, dapsone). Systemic treatment with isotretinoin 25 mg/d and prednisone 20 mg/d achieved only a slight effect after six months. CONCLUSIONS: Our case confirmed the recalcitrant nature of IgA pemphigus in response to distinct therapies, indicating that further research focusing on therapeutic approaches for this type of pemphigus is needed. Physicians should keep IgA pemphigus in mind when approaching patients with bullous eruption.

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.

[Treatment of psoriasis by methotrexate in the era of biotherapies: a study in 21 Tunisian patients]. / Traitement du psoriasis par méthotrexate à l'ère des biothérapies : étude chez 21 patients tunisiens.

INTRODUCTION: We present here results of methotrexate, in term of efficacy and tolerance, administrated in 21 Tunisian patients with severe psoriasis. METHODS: It was a retrospective study conducted between january 2002 and december 2009 in the department of dermatology of Charles Nicolle Hospital of Tunis. We have included 21 patients with severe psoriasis treated by methotrexate. RESULTS: Patients were 53 year-middle aged with a sex-ratio = 6. Psoriasis evolved for a mean of 10 years (1month-60 years). Patients had: plaque psoriasis (n = 18, 85.8%) with 63% body surface involvement, erythrodermic psoriasis (n = 2, 9.5%) and psoriatic arthritis (n = 1, 4.7%). Methotrexate was orally administrated at an initial dose of 5-7.5 mg/week. The maximum dose was of 7.5 mg-12.5 mg/week. Complete remission was achieved in 62% of cases and partial remission in 28.5% of cases. Haematological and hepatic toxicities were observed in 2 patients (9.5%). Mean remission period was of 14 months (3 months-3 years). Seven patients had severe relapses. CONCLUSION: Our study concluded to the efficacy of methotrexate in severe psoriasis with a high rate and long term remission, despite lower doses than those classically used in the literature.

Cutaneous adverse drug reactions in children. A series of 90 cases.

BACKGROUND: Cutaneous adverse drug reactions (CADR) are frequent in children. They have different clinical presentations and may be caused by several drugs. AIM: To evaluate the epidemioclinical features of cutaneous adverse drug reactions (CADR) and the different causative drugs in a Tunisian paediatric series. METHODS: We have retrospectively included 90 children (under 16 years old) with a well documented cutaneous drug reaction, seen in the Department of Dermatology of Charles Nicolle hospital of Tunis over 18 years (1991-2008). Age, gender, duration of skin disorders, type of cutaneous lesions, incriminated drugs, delay between drug consumption and eruption, validation by the national pharmacovigilance centre, treatment and outcome were recorded. RESULTS: Our patients were 6.9 year-aged (sex-ratio M/F 1.19). They had maculopapular eruption (MPE) (57.7%), acute urticaria (16.6%), fixed drug eruption (14.4%), erythema multiform (2.2%), photosensitization (1.1%) or severe cutaneous drug reactions (10%).Incriminated drugs were: Antibiotics (55.5%), non-steroidal antiinflammatory drugs (18.8%), antiepileptics (11.1%), and analgesics (5.5%). Betalactamins were the most commonly incriminated antibiotics (32 out of 50 patients; 64%). Barbiturates were the most commonly incriminated anti-epileptics (7/90 cases, 7.7%). Favourable outcome was noted in all patients, even those with severe drug reactions. CONCLUSION: MPE to antibiotics were the most common kinds of CADR in children. Drug responsibility should be based on solid criteria given the frequency of MPE of infectious origin and the frequent prescription of antibiotics in paediatric population.

[Not Available]. / Traitement du psoriasis par méthotrexate à l'ère des biothérapies : étude chez 21 patients tunisiens.

INTRODUCTION: We present here results of methotrexate, in term of efficacy and tolerance, administrated in 21 Tunisian patients with severe psoriasis. METHODS: It was a retrospective study conducted between january 2002 and december 2009 in the department of dermatology of Charles Nicolle Hospital of Tunis. We have included 21 patients with severe psoriasis treated by methotrexate. RESULTS: Patients were 53year-middle aged with a sex-ratio=6. Psoriasis evolved for a mean of 10years (1month-60years). Patients had: plaque psoriasis (n=18, 85.8%) with 63% body surface involvement, erythrodermic psoriasis (n=2, 9.5%) and psoriatic arthritis (n=1, 4.7%). Methotrexate was orally administrated at an initial dose of 5-7.5mg/week. The maximum dose was of 7.5mg-12.5mg/week. Complete remission was achieved in 62% of cases and partial remission in 28.5% of cases. Haematological and hepatic toxicities were observed in 2 patients (9.5%). Mean remission period was of 14months (3months-3years). Seven patients had severe relapses. CONCLUSION: Our study concluded to the efficacy of methotrexate in severe psoriasis with a high rate and long term remission, despite lower doses than those classically used in the literature.

Postvaccination morphea profunda in a child.

We report a new case of postvaccination morphea profunda (MP) in a child and discuss its different clinical presentations, prognosis, and therapy and its relationship with "solitary morphea profunda." A 2-year-old healthy girl presented with an induration of the anterior aspect of the left thigh of 9 months duration. The lesion had appeared 3 months after a third dose of diphtheria-tetanus-pertussis vaccine. Cutaneous examination showed an induration of 7 × 7 cm with an "orange peel" texture after pinching the skin. Histologic examination confirmed the diagnosis of MP. Systemic steroids (1 mg/kg/day) led to the stabilization of the lesion. After 4 months of treatment, we began the concomitant use of oral methotrexate (10 mg/wk) for 2 months. Methotrexate was then continued alone for 10 months, leading to a significant regression of the induration with no relapse.

Chronic actinic dermatitis: two patients with successful management using narrowband ultraviolet B phototherapy with systemic steroids.

BACKGROUND: Chronic actinic dermatitis (CAD) is a debilitating photodermatosis with characteristic clinical, histological and photobiological features (reduced minimal erythema dose: MED). Its management involves various therapeutic approaches, among them there is phototherapy. Efficacy of psoralen ultraviolet therapy (PUVA therapy) was previously demonstrated but there are no current data on the use of narrowband ultra violet B (UVB) therapy (NB-UVB) in CAD. NB-UVB has already been proven to be effective and safe in several other photodermatoses. CASE REPORTS: We report here two dark-skinned patients (skin type IV and V) with CAD, successfully treated with an incremental regimen of NB-UVB phototherapy coupled to a 3 month-course of systemic steroids (1mg/Kg/day). CONCLUSION: Our protocol of NB-UVB with steroids seems to be effective for the management of CAD with a good short term safety profile.

Giant trichoblastoma of the scalp.

BACKGROUND: Trichoblastoma is a rare and benign adnexial tumor with characteristic histological features. It occurs on any hair folliclebearing location, and usually presents as a solitary lesion most often less than 2 cm in size. Giant trichoblastoma has been rarely reported in the literature. AIM: To report a new case of giant trichoblastoma, misleading for malignancy. CASE REPORT: A 57-year-old woman presented with a 5 cm-solitary asymptomatic nodular lesion of the scalp, of 28 years. It had been previously excised with recurrence and progressive regrowth. On examination, it was a dome-shaped, erythematous, firm, papillomatous, non infiltrated nodule. Full body work up revealed no metastases. Cutaneous biopsy concluded to trichoblastoma but failed to eliminate malignancy. After excision with secondary skin graft, histological examination confirmed the benignity with clear margins. There was no evidence of recurrence after a 5 year-follow-up period. CONCLUSION: This case illustrates a rare clinical variant of trichoblastoma with an unusual important size. This can be misleading for malignancy, but the slowly progressive course of the tumour in our patient, together with histological benignity led to the correct diagnosis. This tumour is considered as a distinct entity by some authors.

Chronic linear ulcerations of the inguino-crural and buttocks folds.

Vulvo-perineal Crohn's disease is a rare condition either when it is isolated or associated with digestive manifestations. In the former condition named metastatic Crohn's disease, it may constitute a diagnostic challenge and may be confused especially with other infectious or inflammatory disorders. We report a case of vulvo-perineal Crohn's disease in a 46-year-old woman. A 46-year-old woman was diagnosed with a vulvo-perineal Crohn's disease without digestive involvement. There was a chronic edema of the vulva with linear ulcerations on the inguino-crural regions and the buttocks fold, of 3 years. Treatment with metronidazole (1 g/day for 6 months) led to almost complete healing of the ulcerations with a sustained result. Physicians must be aware of the diverse manifestations and confusing presentations of vulvo-perineal Crohn's disease.

[Hydroxyurea induced-leg ulcer in polycythemia vera]. / Ulcère de jambe induit par l'hydroxyurée dans la cadre d'une thrombocythémie essentielle.

BACKGROUND: Hydroxyurea (HU) is an antineoplastic drug commonly used to treat chronic myeloproliferative disorders. Dermatological side effects are frequent and usually benign. Leg ulceration following HU therapy is less common. AIM: To describe epidemioclinical and therapeutic features of leg ulcers induced by HU. CASE REPORT: A 70-year-old woman is treated with hydroxyurea for polycythemia vera. One year later; she presented with a malleolar painful ulcer, initially healed without discontinuation of the treatment, but has been recurred 2 months later, becoming multiple and bilateral. HU has been discontinued and ulcers were completely cured. CONCLUSION: Leg ulcers induced by hydroxyurea are rare. Pathogenesis of HU-induced ulcers remains unknown and is multi factorial. Discontinuation of treatment is still the option of choice for complete recovery.

Endogenous ochronosis: case report and a systematic review of the literature.

BACKGROUND: Endogenous ochronosis (EO) is a rare autosomal recessive disorder due to accumulation of oxidized and polymerized forms of homogentisic acid (HGA) in connective tissues, giving them a deep dark blue pigmentation. AIM: Through a new Tunisian case of EO and a review of the literature, we aimed to define the epidemioclinical features of EO, its diagnostic criteria, and evolution. METHODS: Three hundred and forty patients were enrolled through 54 articles and four abstracts. CASE REPORT: A 35-year-old woman, born in consanguineous parents, presented with blue-grey patches of fingernails, first interdigital spaces, and ears with brown conjunctival pigmentation. Urine specimen turned dark on standing overnight. The diagnosis of EO was confirmed by urinary high levels of HGA. Investigations revealed radiologic signs of ochronotic arthropathy. REVIEW OF THE LITERATURE: EO is ubiquitary. Its prevalence was estimated at almost 6.5 cases/year. The mean age at diagnosis was 55.9 years (M/F: 1.85). Onset symptoms mainly consisted in cutaneous signs. Ochronotic arthropathy was the most frequently reported manifestation. Treatment was mainly symptomatic. DISCUSSION: EO is often revealed in adulthood mainly after the fourth decade. Urinary darkening is the first sign of the disease but is rarely reported as an onset sign. Skin signs are the alerting features. Ochronotic arthropathy is insidious but may be debilitating. No specific medical treatment of EO is available. CONCLUSION: Cutaneous manifestations are the hallmarks of OE. As vital organ involvement has been reported, close monitoring and continuous surveillance is warranted.

Late-onset disseminated superficial actinic porokeratosis in an elderly woman.

INTRODUCTION: Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis. A case of late-onset DSAP is reported with an uncommon presentation in an elderly patient. METHODS: An 80-year-old woman, with diabetes mellitus treated with metformin, and hypertension treated with metoprolol and captopril, presented with multiple 2 mm-to-7 cm brown patches, for 5 years. The patches were often confluent with an atrophic center and a well-demarcated keratotic border located on the thighs, lower legs, and feet. RESULTS: Histological examination of a cutaneous biopsy showed the presence of rare cornoid lamellae, confirming the clinical diagnosis of DSAP. CONCLUSION: In this report, the atypical presentation of DSAP is discussed in this elderly patient and also the possible triggering factors at this age.

Erosive lichen planus of the soles: Effective response to prednisone.

BACKGROUND: Erosive lichen planus (LP) of the soles is a rare variant of LP, characterized by chronic, painful, and disabling plantar ulcerations. Herein, we report a case with complete healing following treatment with systemic steroids. CASE REPORT: A 38-year-old woman was referred with painful and disabling erosive bilateral plantar LP, which she had experienced for 6 weeks. A 1 mg/kg/day, oral prednisone therapy led to rapid improvement and complete healing within 3 weeks, with a sustained result under a low dose maintenance therapy. DISCUSSION: Ulcerative plantar LP is significantly known to be unresponsive to several topical and systemic therapies. Surgical excision and grafting is the treatment of choice. Systemic steroids are reported to have inefficient or partial results; both on cutaneous healing and on maintenance of the result. Our patient achieved complete cicatrisation with a sustained result of 3 months under a low dose of prednisone (5 mg/day).