Incaf Mokhtar

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients

Background  Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by cutaneous and ocular alterations. Eight genes, Xeroderma Pigmentosum group A (XPA) to Xeroderma Pigmentosum group G (XPG) and Xeroderma Pigmentosum group V (XPV), are known to be responsible for the disease and products of these genes are involved in the repair of deoxyribonucleic acid (DNA) lesions generated by UV radiation. Several XP patients suffer from neurological defects, found in the XPA (the most common form), D and G groups. The aim of this study was to investigate the mutational spectrum of XPA in Tunisia, in order to propose a simple tool for molecular diagnosis.

Radiotherapy‐induced pemphigus vulgaris with autoantibodies targeting a 110 kDa epidermal antigen

Background  Pemphigus is an autoimmune intraepidermal blistering disease mediated by autoantibodies targeting desmosomes. It can be induced by many triggers, such as ionizing radiation.

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family

Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP‐A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP‐A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype–genotype correlation for this new phenotypic expression of XP‐A.

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.

Tongue hyperpigmentation during PEG-interferon-alfa/ribavirin therapy in a non-Caucasian patient with chronic hepatitis C: a case report and review of the literature

Morphol 2002; 10: 7–14. 3 Wu YH, Chen HC, Hsiao PF, et al. Hydroa vacciniforme-like Epstein-Barr virus-associated monoclonal T-lymphoproliferative disorder in a child. Int J Dermatol 2007; 46: 1081–1086. 4 Quintanilla-Martinez L, Kimura H, Jaffe ES. EBV-positive T-cell lymphoproliferative disorders of childhood. In: Swerdlow SH, Campo E, Harris NL, et al., eds. WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Lyon: IARC Press, 2008: 278–280. 5 Oono T, Arata J, Masuda T, Ohtsuki Y. Coexistence of hydroa vacciniforme and malignant lymphoma. Arch Dermatol 1986; 122: 1306–1309. 6 Feng S, Jin P, Zeng X. Hydroa vacciniforme-like primary cutaneous CD8-positive T-cell lymphoma. Eur J Dermatol 2008; 18: 364–365. 7 Doeden K, Hernan MK, Perez E, et al. Hydroa-like lymphoma with CD56 expression. J Cutan Pathol 2008; 35: 488–494. 8 Xu Z, Lian S. Epstein-Barr virus-associated hydroa vacciniforme-like cutaneous lymphoma in seven Chinese children. Pediatr Dermatol 2010; 27: 463–469. 9 Cohen JI, Kimura H, Nakamura S, et al. Epstein-Barr virus-associated lymphoproliferative disease in nonimmunocompromised hosts: a status report and summary of an international meeting, 8–9 September 2008. Ann Oncol 2009; 20: 1472–1482. 10 Lyssel J, Wiegleb Edstrom D, Linde A, et al. Antiviral therapy in children with hydroa vacciniforme. Acta Derm Venereol 2009; 89: 393–397.

Should we continue to indicate meglumine antimoniate as first-line treatment for cutaneous leishmaniasis in Tunisia.

Meglumine antimoniate compounds have been the mainstay of treatment for cutaneous leishmaniasis (CL) for decades. We propose to evaluate the place of these drugs in this indication in Tunisia. We retrospectively reviewed medical records of 67 patients treated for (CL) using meglumine antimoniate at a dose of 20 mg/kg/day for 15 day from 1998 to 2010. Clinical and laboratory data, tolerance, and outcome were precised. Side effects were recorded in 17 among 67 patients (25%). The average age was 44.4 years (2–86 years). Antimony intolerance events occurred in 11 patients, stibio‐intoxication events in nine cases, and the both type of antimony adverse effects were observed in three patients. Fever was the most frequent complication of antimony intolerance (five cases), followed by cough (three cases), rash (two cases), injection site erythema (two cases), musculoskeletal pain (one case), asthenia (one case), and vomiting (one case). Signs of stibio‐intoxication were asymptomatic elevation of amylase level (four cases), hepatic cytolysis (three cases), hematologic toxicity (three cases), and acute toxic kidney failure (one case). Meglumine antimoniate was stopped in 13 cases. Systemic administration of pentavalent antimonials in the treatment of CL has been associated with severe adverse effects. CL observed in Tunisia is a self‐healing dermatosis that never induces sequela; therefore, other therapies such as topical treatment or cryotherapy should be considered.

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 [...]

Unilateral upper limb skin sarcoid reaction after homolateral mastectomy for breast cancer

in patients with familial benign chronic pemphigus (Hailey–Hailey disease). J Am Acad Dermatol 1989; 21: 506–510. 3 Remitz A, Lauerma AI, Stubb S, et al. Darier’s disease, familial benign chronic pemphigus (Hailey–Hailey disease) and contact hypersensitivity. J Am Acad Dermatol 1990; 22: 134. 4 Pónyai G, Kárpáti S, Ablonczy E, et al. Benign familial chronic pemphigus (Hailey–Hailey) provoked by contact sensitivity in two patients. Contact Derm 1999; 40: 168– 169. 5 Walker SL, Beck MH. Undiagnosed Hailey–Hailey disease causing painful erosive changes during patch testing. Br J Dermatol 2005; 153: 253–254.

Lupoid leishmaniasis of the nose responding well to cryotherapy

A 23-year-old girl from Tunisia presented to our dermatology department in May 2007 with a 9-month history of a slowly enlarging, asymptomatic nodule of the nose. Her medical history was unremarkable. Clinical examination showed a 2-cm diameter, well-demarcated, granulomatous nodular lesion of the tip of the nose (FIG. 1A). The lesion was painless and had an erythematous, large, raised border with numerous papules and a mild scaling (FIG. 1B).There was no cervical lymphadenopathy, and no evidence of organomegaly. The hematologic and biochemical studies were all within normal limits. A direct smear from the exudate of fluid obtained by needle aspiration of the lupoid lesion was stained with Giemsa for leishmania parasite. A biopsy was performed, and a part of the tissue was used for culture. The smear showed leishmania bodies, and the culture was negative. The histopathological examination showed hyperkeratosis, parakeratosis, and acanthosis within the epidermis. The dermis was filled with aggregates of large, pink histiocytes and mixed chronic inflammatory cells. The histiocytes contained dot-like organisms typical of CL (FIG. 1C). The patient was admitted for a daily intramuscular injection of meglumine antimoniate (60 mg/kg), but no improvement was obtained 2 weeks later. Then, she received ketoconazole 200 mg daily for 1 month. The patient was controlled 4 months later, and the lesion still showed no evidence of healing. She was admitted again for a second 15-day course of intramuscular injection of meglumine antimoniate (60 mg/kg). After 2 months, only a mild improvement was noted. The present authors attempted to identify the parasite agent of this resistant case of CL by polymerase chain reaction (PCR) method. Unfortunately, the result of PCR yielded negative. The cutaneous lesion was disfiguring and had a psychosocial impact on our patient. So, the present authors decided to try cryotherapy. A handheld unit for spraying (Cry-ac, Brymill, CA) with a 1-mm nozzle was used to spray liquid nitrogen on the lesion. The spraying was performed at a 2-cm distance between the nozzle and the lesion for 10–15 seconds until the freezing reached up to a few millimeters within the healthy skin surrounding the lesion. Applications were repeated until the entire lesion was included. Cryotherapy was performed every 2 weeks.The lesion healed completely after six sessions with very good cosmetic result (FIG. 2). The patient was followed-up for 1 year and showed no signs of recurrence. LL, also known as chronic or relapsing leishmaniasis, is usually resistant to conventional therapies. Diagnosis of LL may be difficult if no parasites are detected. In fact, leishmaniasis amastigotes are frequently absent on microscopy, and culture for leishmaniasis is frequently negative. PCR method had a sensitivity of about 45.5% in LL. There is no standardized treatment for this condition. Treatment options include local injection of amphotericin B (1); combination of systemic meglumine antimoniate and allopurinol (2); triple therapy with paramomycin, cryotherapy, and intralesional meglumine antimoniate (3); combination therapy of topical trichloroacetic acid (TCA) and systemic meglumine antimoniate (4); and carbon dioxide laser (5). These wide ranges of therapies may be expensive, toxic, and not so effective in the treatment of LL. Our patient, who responded

Long-pulsed Nd:YAG laser in the treatment of facial hypertrichosis during topical minoxidil therapy.

Abstract Hypertrichosis is a well-recognized adverse effect of therapy with either oral or topical minoxidil. We report a case of fronto-temporal hypertrichosis occurring in an 8-year-old girl treated for patchy alopecia areata of the frontal area of the scalp with 2% minoxidil solution. After failure of 5-months minoxidil-discontinuation, hair removal with Nd:YAG laser (1064 nm line) (Smartepil II, Deka) was tested leading to complete resolution within 2 sessions.