Pemphigus Vegetans Confined to the Face and Scalp.

A 58-year-old man presented to our department with multiple chronic vegetant plaques on the face and scalp that had been present for 4 months. The plaques were well-defined hypertrophic areas, measuring between 3 cm × 3 cm and 3 cm × 4 cm, that were located mainly on the face symmetrically and on the forehead (Figure 1). The patient did not report itching or pain. There were also dry, crusty, well-defined plaques on the scalp. No other lesions were present on the skin or mucous membranes.

Melanoma of the Nasal Cavity.

78-year-old man presented with complaints of progressive nasal blockage and epistaxis over the previous 2 months. Clinical examination revealed a nodular, polypoid, ulcerated nonpigmented tumor filling the right nasal cavity (Figure 1). A punch biopsy was taken from the mass for histopathologic examination, which revealed many melanocytes in the submucosa. The stroma contained large numbers of spindle-shaped cells with hyperchromatic spindleoid nuclei (Figure 2), confirming the diagnosis of malignant melanoma. The tumor cells stained positive for melan-A (Figure 3) and HMB-45.

Multiple Eccrine Spiradenomas in a Zosteriform Distribution.

A 52-year-old man was referred to our department with a 28-year history of painful nodular lesions located on his left buttock and left inguinal region that had recently increased in size and number. The lesions had developed progressively over many years. Cutaneous examination revealed multiple, well-circumscribed, subcutaneous, blue-gray nodules in a zosteriform distribution across the left inguinal region and the left buttock. Some of the painful nodules were large and ulcerated (Figure 1). Computed tomography showed multiple cutaneous nodules but no bone metastases or subcutaneous invasion. Histologic examination of a nodule demonstrated sharply delineated dermal nodules comprising basaloid cells arranged in a trabecular pattern surrounded by eosinophilic fibrous strands (Figure 2). No evidence of malignant transformation was noted. A diagnosis of multiple eccrine spiradenomas was made, and the patient underwent surgical excision of the painful and ulcerated nodules. He was regularly followed up in our department for 12 years.

Cutaneous Metastases: Clinicopathologic Study of 30 Patients.

Cutaneous metastases (CMs) of internal malignancies are uncommon. The breast in women and the lung in men represent the two elective sites of internal malignancies metastasizing to the skin. The aim of this study was to determine the epidemiologic, clinical, and pathologic features of CMs. A retrospective study of the patients diagnosed with CMs over 30 years was conducted. Thirty cases of CMs were enrolled in our study. In 16 cases (53%), the skin metastasis revealed the internal malignancy. The mean age was 66.4 years with sex ratio men/women of 2. CMs were solitary in 18 cases and multiple in 14 cases. The most frequent location was the chest (12 cases), followed by the abdomen (eight cases), the scalp (seven cases), and the arms (six cases). The common sites of primary malignancy were the lungs in men (nine cases) and the breast in women (three cases). Nine out of 30 patients died with an average of 33 months after diagnosis. In our study, the most frequent primary malignancy in men was lung cancer and in women breast cancer. The onset of CMs during the course of internal malignancy worsens the prognosis of the disease.

Splenogonadal fusion: A case series of two challenging diagnoses.

Splenogonadal fusion is an abnormal connection between the spleen and gonads. This rare entity can be easily confused with testicular tumors. It usually accompanies congenital malformations, such as cryptorchidism, making diagnosis more difficult. Surgeons must be aware of this entity to avoid unnecessary orchiectomy. In some cases, biopsy may help with diagnosis.

[Basal cell carcinoma of unusual site]. / Carcinome basocellulaire de siège inhabituel.

BACKGROUND: Labial mucosa is an atypical site of basal cell carcinoma. The involvement of the vermilion lip, devoid of hair follicles and sweat glands, contrasts with the concept of its origin from pilar structures. We report a case of basal cell carcinoma developed on the vermilion upper lip. CASE REPORT: A 49-year-old woman, presented with an asymptomatic, 1-cm-diameter, erythematous, telangiectatic and crusted nodule on the upper lip evolving for 9 months and having once interested the vermilion border. There were no cervical lymph nodes. Diagnosis of infiltrative basal cell carcinoma was made by histological study, which showed a tumoral proliferation of epithelial basal cells infiltrating the dermis with perineural and muscular infiltration. DISCUSSION: Our report illustrates a rare but not exceptional site of basal cell carcinoma. The nodule, initially confined to the vermilion border, has then developed onto the mucosal and the cutaneous areas. Histopathological study revealed, as previously reported, infiltarative features. Basal cell carcinoma of the lip should be rapidly managed since its invasion to deeper structures occurs early.

[Hyalinosis cutis et mucosae : 5 cases from Tabarka (Tunisia)]. / La hyalinose cutanéo-muqueuse : 5 cas originaires de Tabarka (Tunisie)

BACKGROUND: Hyalinosis cutis et mucosae (HCM), is a rare autosomal recessive genodermatosis. Cutaneous features are characteristic and allow to suspect diagnosis. AIM: To report a series of HCM. METHODS: A retrospective study of all cases of HCM, diagnosed in a dermatology department over a period of 25 years (1983-2007). RESULTS: Over the considered period, 5 new cases of HCM were diagnosed. Patients were aged between 14 and 41 years. They were 3 females and 2 males. All patients were native of Tabarka (northwestern Tunisia). The age of the onset of the disease varied from neonatal period to 5 years. Hoarseness was the first clinical manifestation in all cases. Skin lesions developed between the ages of 3 and 8 years. Vesiculobullous lesions were observed in 2 patients. Moniliform blepharosis was seen in all patients. Warty and hyperkeratotic papules were observed in 3 patients. Diffuse thickening of the skin was seen in 3 patients. Lesions were primarily distributed on the face. All patients presented diffuse scars. Linear palmoplantar keratoderma was seen in one patient. Asymptomatic endocranial calcifications were noted in 4 patients. A pituitary adenoma was noted in one patient. Histopathological examination of a skin lesion revealed a typical pattern of HCM. Two patients were treated with systemic retinoids without improvement. CONCLUSION: We reported five new cases of HCM. All patients were native from Tabarka. We report also one case of linear palmar keratoderma associated with HCM. This association was not reported in the literature. Finally, the association HCM-pituitary adenoma, seen in one patient, may be fortuitous.

[Steatosis in chronic hepatitis C: prevalence and predictive factors]. / Stéatose au cours de l'hépatite chronique C : prévalence et facteurs de risque de survenue.

BACKGROUND: Patients with hepatitis C virus seem to often have hepatic steatosis. AIM: To assess the prevalence and the predictive factors of steatosis during chronic hepatitis C. METHODS: We studied 50 HCV RNA positive subjects, who had liver biopsy performed. Steatosis was searched and patients were divided into to groups according to the presence or not of steatosis. RESULTS: On liver biopsy, 28 patients (56%) had steatosis. Multivariante analysis showed that steatosis was associated with age 58 years > 1,1 µmol/l, odds ratio 2 (95% CI 1.48 - 2.6; p= 0.02) and triglycerides level, odds ration 4,22 (95% CI 1.05 - 16.98; p = 0,03. CONCLUSION: In this study, steatosis was significantly associated with metabolic factors.

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

Erythrokeratodermia variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3. Genetic heterogeneity of EKV has already been suggested. We investigated at the clinical and genetic level a consanguineous Tunisian family with 2 sisters presenting an autosomal recessive form of EKV to better characterize this disease. Mutational analysis initially screened the connexin genes and Whole-exome sequencing (WES) was performed to identify the molecular aetiology of the particular EKV phenotype in the proband. Migratory shaped erythematous areas are the initial presenting sign followed by relatively stable hyperkeratotic plaques are the two predominates characteristics in both patients. However, remarkable variability of morphological and dominating features of the disease were observed between patients. In particular, the younger sister (proband) exhibited ichthyosiform-like appearance suggesting Autosomal Recessive Congenital Ichthyosis (ARCI) condition. No causative mutations were detected in the GJB3 and GJB4 genes. WES results revealed a novel missense homozygous mutation in NIPAL4 gene (c.835C>G, p.Pro279Ala) in both patients. This variant is predicted to be likely pathogenic. In addition, in silico analysis of the mutated 3D domain structure predicted that this variant would result in NIPA4 protein destabilization and Mg2+ transport perturbation, pointing out the potential role of NIPAL4 gene in the development and maintenance of the barrier function of the epidermis. Taken togheter, these results expand the clinical phenotype associated with NIPAL4 mutation and reinforce our hypothesis of NIPAL4 as the main candidate gene for the EKV-like ARCI phenotype.

Myxofibrosarcoma of the leg: A diagnostic challenge.

We should keep in mind slowly growing malignancies when the lesion is located close to the synovial regions of the extremities. The diagnosis of certainty of myxofibrosarcoma is histological and is based on the demonstration of the myxoid matrix, fibroblastic cells with a curvilinear arrangement of the vessels.

Pemphigus vulgaris presenting as an isolated crusted plaque of the cheek.

A healthy 45-year-old man presented with a three-month history of an isolated enlarging eroded plaque on the left cheek. Pemphigus vulgaris was diagnosed by biopsy and positive direct immunofluorescence. The patient was lost to follow up, but returned two months later with generalized cutaneous involvement without mucosal involvement. He responded rapidly to oral corticosteroid therapy.

Anguillulosis: circumstances of infestation and evolution towards the malignant form.

INTRODUCTION: Anguillulosis is a ubiquitous digestive parasitosis. Rare in Tunisia, it is due to a round worm, strongyloid stercoralis, whose natural lodging is the duodeno-jejunal mucosa. Its malignant form is rare but it represents a potentially life-threatening disease. AIM: We report a case of malignant anguillulosis occurring in a context of immunosuppression. OBSERVATION: The case we report is about a 46-year-old man treated by a long-term corticosteroid therapy for Takayasu disease. He was hospitalized for an acute digestive syndrome. Biopsies were performed but the evolution was rapidly marked by multiorgan failure, sepsis and death of the patient. Histological analysis of the digestive biopsies concluded to an oeso-gastroduodenal anguillulosis. CONCLUSION: Anguillulosis is a rare parasitosis but it can pose a health problem especially in its malignant form wich can be a life-threatening.

Erythematous nodule of the eyelid.

A 68-year-old woman had a 15-day history of a well-circumscribed, erythematous nodule of the left eyebrow/eyelid area. After excision a primary cutaneous large B-cell lymphoma was diagnosed. The tumor was excised with clear margins and the patient has shown no recurrence over two years.

H syndrome: Clinical, histological and genetic investigation in Tunisian patients.

H syndrome is a rare autosomal recessive disorder with characteristic dermatological findings consisting of hyperpigmentation and hypertrichosis patches mainly located on the inner thighs and multisystemic involvement including hepatosplenomegaly, hearing loss, heart abnormalities and hypogonadism. The aim of this study was to conduct a clinical and genetic investigation in five unrelated Tunisian patients with suspected H syndrome. Hence, genetic analysis of the SLC29A3 gene was performed for four patients with a clinical diagnosis of H syndrome. We identified a novel frame-shift mutation in the SLC29A3 gene in a female patient with a severe clinical presentation. Furthermore, we report two mutations previously described, the p.R363Q mutation in a male patient and the p.P324L mutation in two patients of different age and sex. This paper extends the mutation spectrum of H syndrome by reporting a novel frame-shift mutation, the p.S15Pfs*86 in exon 2 of SLC29A3 gene and emphasizes the relevance of genetic testing for its considerable implications in early diagnosis and clinical management.

[Sweet's syndrome: a propos of 8 cases]. / Le syndrome de Sweet: a propos de 8 cas.

BACKGROUND: Sweet's syndrome is a dermatosis classically determined by painful erythematous plaques or nodules associated with fever, neutrophilia and dense neutrophilic dermal infiltrate. In most cases, Sweet's syndrome may occur in the absence of other diseases. However, it can be associated with an inflammatory disease and essentially with malignant conditions in 20% of cases requiring a careful investigation. AIM: We report herein, the epidemiological, clinical, therapeutic and evolutive features of a hospital serie. METHODS: We retrospectively reviewed all the files of patients conforming with the diagnosis of SS, seen at the dermatology departement of Habib Thameur hospital during a 7-year period (from 1997 to 2003). All patients fulfilled at least two major criteria and two minor criteria of Su et Liu's diagnostic criteria modified by Von Den Driesch. RESULTS: 8 cases of .Sweet's syndrome were diagnosed. All patients were females. The mean age was 51.62 years. The lesions occurred on the upper limbs in 7/8 cases. SS was isolated in 6 cases and para-inflammatory in one case corresponding to an associated Sjogren's syndrome. Besides the standard therapy using oral corticosteroids (3 patients), non steroidal inflammatory agents has been efficient in 4 cases. CONCLUSION: In our serie, we report an exclusive female involvement and a lower frequency of associated diseases compared with the relevant literature. Association of SS and Sjogren's syndrome is exceptional. To our knowledge, only 6 cases have already been reported.