Aida Khaled

The course and prognosis of pemphigus in 47 Tunisian patients.

Background  Pemphigus is a severe and life‐threatening autoimmune bullous dermatosis.

Nevus lipomatosus cutaneous superficialis: Report of eight cases.

IntroductionNevus 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.MethodsThe study was a retrospective case series including all patients with histopathologically documented NLCS who attended the Dermatology Department of Charles Nicolle hospital between January 1997 and December 2010. The objective of our study was to determine the epidemioclinical characteristics, the histopathologic features, and the treatment of this hamartoma. Patients included three males and five females aged between 7 and 41 years.ResultsIn four cases hamartoma was present since childhood, and in the other four cases it appeared in the third and fourth decades. Classical form was noted in seven cases and the solitary form in one case. Lesions involved limbs in four patients and trunk in four patients. Seven patients underwent surgical excision, and for one case no treatment was proposed.ConclusionThe multiple or classical form is largely predominant in our study. Habitually, NLCS has an asymptomatic course. Treatment is usually not necessary unless for cosmetic reasons; surgical excision is curative and recurrence after is rare.

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.

Late-onset disseminated superficial actinic porokeratosis in an elderly woman

IntroductionDisseminated 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.MethodsAn 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.ResultsHistological examination of a cutaneous biopsy showed the presence of rare cornoid lamellae, confirming the clinical diagnosis of DSAP.ConclusionIn this report, the atypical presentation of DSAP is discussed in this elderly patient and also the possible triggering factors at this age.

Bullous eruption in a five-month-old girl

A five-month-old girl was referred to our department for an erythematous papular nonpruritic eruption that evolved into the formation of blisters on the trunk, hands and feet over a two-week period. Her medical history was unremarkable. She had received a combined polio, diphtheria, tetanus and

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.

Chronic linear ulcerations of the inguino-crural and buttocks folds

Vulvo-perineal Crohns disease is a rare condition either when it is isolated or associated with digestive manifestations. In the former condition named metastatic Crohns 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 Crohns disease in a 46-year-old woman. A 46-year-old woman was diagnosed with a vulvo-perineal Crohns 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 Crohns disease.

Lupoid cutaneous leishmaniasis: a case report.

BackgroundLupoid 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 reportA 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. Microscopic examination of a parasitological smear showed numerous leishmania in their amastigote form, inside monocytes, confirming the diagnosis of CL. Clinical aspect was in favor of lupoid CL. The patient was cured by fluconazole 200 mg/day for 6 weeks after pancreatic intolerance with intramuscular meglumine antimoniate (60 mg/kg/day for 7 days), and no response to doxycycline (200 mg/day for 6 weeks).DiscussionLupoid CL is easily suspected in countries in which there is an endemic of leishmaniasis. In countries where there isn’t an endemic, although rarely observed, this diagnosis should also be kept in mind in front of an infiltrated facial lesion of a tuberculoid aspect on histology, especially when there is a positive travel history to an area in which there is an endemic.

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

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.

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.