Rym Benmously

Acebutolol-induced subacute cutaneous lupus erythematosus.

Beta-blocking medications are rarely associated with drug-induced lupus erythematosus syndrome and have never been incriminated as a cause of subacute lupus erythematosus (SCLE). We present herein the first case of SCLE induced by acebutolol. A 57-year-old woman presented with a 1-month history of a cutaneous eruption of the photoexposed areas. One month ago, the patient had started a treatment with oral acebutolol to cure a hypertension of 1-year evolution. Physical examination revealed erythematous scaly annular plaques, involving the face, arms and trunk. Immunologic serology findings revealed a positive titer of antinuclear antibodies up to 1/1,280 with positivity of antihistone and Ro/SSA antibodies. Acebutolol was stopped, and the lesions cleared completely 4 months later. Literature data, along with our case, suggest a link between acebutolol therapy and the onset of a lupus syndrome. Although this is the first report of acebutolol-induced SCLE, we should be aware of this occurrence, and avoidance of acebutolol is recommended in patients with stigmata of lupus erythematosus

Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing of SLURP-1 gene in order to identify the genetic defect in three unrelated families (families MDM-12, MDM-13, and MDM-14) variably affected with transgressive palmoplantar keratoderma. A spectrum of clinical presentations with variable features has been observed from the pronounced to the transparent hyperkeratosis. We identified the 82delT frame shift mutation in the SLURP-1 gene in both families MDM-12 and MDM-13 and the missense variation p.Cys99Tyr in family MDM-14. To date, the 82delT variation is the most frequent cause of MDM in the world which is in favour of a recurrent molecular defect. The p.Cys99Tyr variation is only described in Tunisian families making evidence of founder effect mutation of likely Tunisian origin. Our patients presented with very severe to relatively mild phenotypes, including multiple keratolytic pits observed for one patient in the hyperkeratotic area which was not previously reported. The phenotypic variability may reflect the influence of additional factors on disease characteristics. This report further expands the spectrum of clinical phenotypes associated with mutations in SLURP1 in the Mediterranean population.

New mutations of Darier disease in Tunisian patients

Darier’s disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (central trunk, flexures, scalp, and forehead). Pathogenic mutations in the ATP2A2 gene encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) 2 gene underlie the disease. In the present study, we performed genetic investigation of three unrelated Tunisian families affected by DD. Mutation screening was performed by direct sequencing of the coding region and exon/intron boundaries of the ATP2A2 gene. Patients in the 3 studied families exhibited classical DD phenotype. DD was associated with neurological and cardiac disorders in one family. Two novel mutations were identified: a missense mutation (R559Q) and a frameshift mutation (1713-1714 del 2A). Both pathogenic mutations are located in exon 13 of the ATP2A2 gene and affected the ATP-binding site of the SERCA2 protein. In one family, no mutation was found within the coding region and exon/intron boundaries of the ATP2A2 gene. Our findings provide further evidence for the genetic heterogeneity of DD in Tunisia and that most mutations involved in this disease are family specific.

Hémangioendothéliome épithélioïde cutané

Resume Introduction L’hemangioendotheliome epithelioide est une tumeur des tissus mous prenant naissance a partir de l’endothelium vasculaire. Elle est consideree comme une tumeur de bas grade de malignite. La localisation a la peau est tres rare et fait souvent partie d’une atteinte multisystemique. Observation Une femme de 34 ans, consultait pour un nodule cutane erythemato-violace, douloureux, siegeant a l’avant-bras droit et evoluant depuis 6 mois. Une echographie abdominale avait ete pratiquee 1 mois avant l’apparition du nodule cutane, du fait de douleurs epigastriques et etait normale. Les examens histologiques et immunohistochimiques cutanes permettaient de poser le diagnostic d’hemangioendotheliome epithelioide. Le bilan d’extension, comprenant des examens radiologiques, echographiques, un scanner thoraco-abdominal et une imagerie par resonance magnetique, revelait la presence de nodules hepatiques. Le traitement consistait en une exerese large et complete de la tumeur. Apres un an d’evolution, aucune recidive locale n’etait observee et les localisations hepatiques etaient stables. Discussion L’hemangioendotheliome epithelioide appartient au groupe des tumeurs vasculaires epithelioides ayant en commun un aspect morphologique epithelioide des cellules tumorales endotheliales. La localisation a la peau est rare et a notre connaissance, seulement 20 cas d’hemangioendotheliome epithelioide avec atteinte cutanee ont ete rapportes dans la litterature. L’hemangioendotheliome epithelioide cutane peut rester isole ou rentrer dans le cadre d’une maladie multifocale avec des atteintes viscerales associees. Ainsi, la decouverte de lesions cutanees impose la pratique d’un bilan d’extension a la recherche de localisations profondes. L’hemangioendotheliome epithelioide etant considere comme une tumeur de bas grade de malignite, l’integrite du foie chez cette malade, observee un mois avant l’apparition de la maladie, est en faveur d’une maladie multicentrique plutot que de localisations metastatiques hepatiques d’une tumeur cutanee primitive.

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.

Insect bite-like reaction associated with the relapse of non-Hodgkin B cell-lymphoma

Auteur(s) : Rym Benmously1, Houda Hammami1, Mondher Rouatbi1, Achraf Debbiche2, Adnane Souissi2, Incaf Mokhtar1, Sammy Fenniche1 1Dermatology Department, Habib Thameur Hospital, 8, Ali Ben Ayed Sreet Montfleury-1008 Tunis-Tunisia 2Histopathology Department, Habib Thameur Hospital, Tunis An exaggerated reaction to an insect bite is a non specific phenomenon described mostly with chronic lymphocytic leukemia [1]. This dermatosis has been described in about 40 patients affected by lymphoproliferative [...]

Erythroderma: A Clinical Study of 127 Cases and Review of the Literature

Background: Several publications reported different causes of erythroderma. Objective: The aim of this study was to determine the frequency of erythroderma and its aetiologies in Tunisian dermatology departments. Methods: This is a multicentric and retrospective study including all erythroderma patients in all Tunisian dermatology departments who consulted during a period of 5 years. Clinical and laboratory data were analysed. Results: Erythroderma was diagnosed in 127 patients; an incidence of 0.065% of patients is seen in dermatology consultations. In children (33 cases), the most frequent causes of erythroderma were ichthyosis (42.5%), seborrhoeic dermatitis (27.5%) and psoriasis (21%). In adults (94 cases), the main causes of erythroderma were psoriasis (41.5%), eczema (13%) and drug reactions (13%). Drug-related erythrodermas were specifically associated with fever and oedema (p = 0.0005) and eosinophilia (p = 0.01). Conclusion: No atopic erythroderma was observed, and eosinophilia was significantly associated with drug reactions.

Significant alleviation of Darier's disease with fractional CO2 laser.

Abstract Dariers disease (DD) is a dominantly inherited genodermatosis with highly variable expression. It is characterized by symmetrical hyperkeratotic papules affecting seborrheic areas and extremities. The existence of unsightly lesions could lead to discomfort and social handicap. Conventional treatment consists of topical and systemic steroids and/or retinoids alleviating DD. Ablative lasers also have been used to treat these conditions with variable results and side effects. To the best of our knowledge, fractional CO2 laser has never been used to treat DD. We present a case of a 36-year-old woman with verrucous and hyperkeratotic plaques of the forehead significantly improved after two sessions of fractional CO2 laser treatment. Neither scars nor pigmentary disorders were noted.

Subungueal haemorrhages following docetaxel (taxotere) treatment.

INTRODUCTION Docetaxel belongs to the taxane group of chemotherapeutic agents used in the management of various malignant diseases. Nail changes as a complication of such treatment are observed in about 44%. Subungual haemorrhages (SH), are very rare following docetaxel therapy and only a few cases have been previously reported. OBSERVATION An 80-year-old man suffering from prostate adenocarcinoma was treated with a 3-weekly cure of docetaxel started 3 months earlier. Nail changes occurred after the 5th cycle of docetaxel. Clinical examination revealed orange discoloration of the nail plates, subungueal haemorrhages (SH) and onycholysis involving nails of all the digits and toenails of both hands and feet. These features were highly suggestive of nail toxicity following docetaxel therapy. DISCUSSION Nail changes secondary to Taxane chemotherapy includes nail bed dyschromia, onycholysis, red or orange Beaus lines and subungueal hyperkeratosis. SH, as reported in this case, is related to the cumulative dose of docetaxel and should not be attributed to other systemic diseases. Clinicians should recognize this complication to avoid abusive treatment or investigations and inform the patients about the possibility of nail changes secondary to taxane drugs.

Granulomatose septique chronique à révélation cutanée tardive

Resume Introduction La granulomatose septique chronique est une maladie caracterisee par un deficit du pouvoir bactericide du polynucleaire neutrophile. Les manifestations cutanees bien que rarement revelatrices peuvent etre d’un apport considerable au diagnostic, surtout au cours des formes a revelation tardive. Nous en rapportons une observation. Observation Une fille de 15 ans, issue d’un mariage consanguin, avait comme antecedent une leishmaniose viscerale et une hydatidose hepatique. Elle avait depuis 3 ans, des lesions de dermatite de la face et des plis, des folliculites chroniques et des adenites suppurees axillaires et inguinales. L’absence de reduction du nitrobleu de tetrazolium a permis de retenir le diagnostic de granulomatose septique chronique. Un traitement prophylactique a permis une stabilisation des lesions cutanees. Discussion La granulomatose septique chronique regroupe diverses manifestations severes et recidivantes. Sa transmission se fait en general selon le mode recessif lie a l’X ou plus rarement autosomique recessif. Les manifestations cliniques amenant au diagnostic sont tres souvent precoces. Il s’agit principalement de pneumopathies notamment aspergillaires et d’adenites. L’atteinte cutanee bien que moins frequente est importante a connaitre car elle peut conduire au diagnostic dans les formes a revelation tardives comme chez notre malade.