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.

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed.

Histiocytosis X revealed by diabetes insipidus and skin lesions.

Langerhans cell histiocytosis is part of a larger group of syndromes described as histiocytoses. The disease may involve single or multiple systems including skin and nervous system. Here we report an adult case where Langerhans cell histiocytosis presented with diabetes insipidus and cutaneous ulcers.

Lupoid cutaneous leishmaniasis: a case report.

Background: Lupoid cutaneous leishmaniasis (CL) is a rare form of CL having a striking resemblance to other granulomatous cutaneous conditions of infectious or inflammatory origin. The authors present a patient with a facial lupoid CL and discuss the diagnostic tools of this parasitological infection, the main differential diagnosis, and treatment.

Case Report: A 54-year-old Tunisian woman, with no past medical history of lupus erythematosus or infectious disease, presented with a 3-month history of a slowly enlarging erythematous and infiltrated plaque, extending over the nose, the right cheek, and the internal aspect of the right lower eyelid.

Bullous Darier's disease mimicking Hailey-Hailey disease.

Background: The bullous variant of Darier's disease (DD) is a rare type characterized by histological and clinical overlap with Hailey-Hailey disease (HDD).

Case Reports: The following case report describes two cases of familial DD; a 51-year-old woman who presented with erythematous plaques, covered by small blisters in axillary and inguinal areas, and the first patient's daughter, who presented with keratotic papules localized on the axillary and inframammary folds.

Conclusion: These two cases are original by the predominant flexural distribution, and by a bullous form in the first case, clinically and histologically mimicking HHD.

Nevus lipomatosus cutaneous superficialis: Report of eight cases.

Introduction: Nevus lipomatosus cutaneous superficialis (NLCS) is a rare benign hamartomatous skin tumor characterized by dermal deposition of mature adipose tissue. It's classified in two types: the classical form with multiple soft, pedunculated, cerebriform papules and nodules that coalesce into plaques, and the solitary form that consists of a solitary papule or nodule. In this study, eight cases of NLCS are reported.

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 case of multiple epithelioid angiomatous nodules.

Cutaneous epithelioid angiomatous nodule (CEAN) is a distinct type of epithelioid vascular tumor that is usually solitary. Herein we present a 31-year-old man with multiple, rapidly growing nodules on the scalp.

[Treatment of psoriasis by methotrexate in the era of biotherapies: a study in 21 Tunisian patients].

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.

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.

[Not Available].

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.

Pigmented lesion in the inguinal region.

Pigmented Bowen disease (PBD) is a rare tumor characterized by increased melanin pigment in the epidermis or papillary dermis in addition to the typical findings of Bowen disease. We report the case of a 60-year-old woman who presented with a 6-month history of a gradually enlarging solitary dark brown plaque in her right inguinal region. Histopathology showed hyperkeratosis with parakeratosis, acanthosis, disorganization of epidermal architecture, atypical keratinocytes, and increased melanin pigment of the papillary dermis.

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.

A delayed diagnosis of lepromatous leprosy: pitfalls and clues to early recognition.

Purpose: To remind special attention to atypical symptoms of Hansen's disease, we report a case of an atypical case due to a delayed diagnosis.

Background: Clinical features of leprosy are well known, cutaneous lesions and involvement of the peripheral nerves being the cardinal clinical signs. Among these presentations, systemic involvement, including mucous membranes of the upper respiratory tract and eyes, is rarely reported even if it is still commonly seen in endemic areas, in particular lepromatous leprosy.

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.

[Kindler syndrome: clinical and ultra-structural particularities, a propos of three cases].

Introduction: Kindler's syndrome is a rare type of genetic skin condition belonging to the class of bullous poikilodermia. We report three new sibling cases of this rare syndrome.

Cases Reports: The condition was seen in three sisters aged 12, 16 and 20 years, born of a first-degree consanguineous marriage with no family history of Kindler's syndrome.

Erythema elevatum diutinum: an "idiopathic" case.

Erythema elevatum diutinum (EED) is a rare condition with an unclear pathogenesis. Initially classified within neutrophilic dermatoses, it is now considered as a leukocytoclastic vasculitis accordingly to its histopathologic pattern. Several clinical presentations as well as many associated diseases are reported in the literature.

Linear IgA bullous dermatosis in tunisian children: 31 cases.

Background: Linear IgA bullous dermatosis (LAD) of children is relatively frequent in Africa.

Aim: We undertook this study to evaluate the frequency of this disease among autoimmune bullous diseases (AIBDs) in Tunisian children.

Materials And Methods: We present a 32-year retrospective study (January 1976 to December 2007).