F. Cherif

Childhood discoid lupus erythematosus: a Tunisian retrospective study of 16 cases.

Abstract: Discoid lupus erythematosus (DLE) is uncommon in children. The clinical features of childhood DLE are similar to those of adult DLE in presentation and chronic course. However, children have a particularly high level of transition to systemic disease. We undertook a retrospective study of 16 children with DLE ranging in age from 2 to 15 years, seen over a 9‐year period. Six were less than 10 years old at the onset of the disease. The sex ratio was equal. The frequency of childhood DLE was about 7% of the total number of DLE patients seen in our department. Photosensitivity was defined as a clinical history of induction or exacerbation of discoid lesions following sun exposure, and was present in 81% of patients. There was no progression to systemic lupus erythematosus (SLE); an average follow‐up time was 10.5 months (2–30 months). We would like to emphasize the increased frequency of childhood DLE in our country and the importance of photosensitivity. However, follow‐up data regarding transition to SLE is lacking, therefore we are unable to offer a prognosis to our patients.

Pemphigoïde gravidique : Etude de 20 cas

Resume Introduction La pemphigoide gravidique est une dermatose bulleuse auto-immune sous epidermique, survenant au cours de la grossesse et/ou du post partum. L’objectif de cette etude etait de determiner le profil epidemio-clinique, les aspects histopathologiques et immunopathologiques, le traitement et l’evolution de la pemphigoide gravidique chez des malades tunisiens. Malades et methodes Il s’agissait d’une etude retrospective portant sur tous les cas de pemphigoide gravidique colliges entre 1989 et 2003 dans le service de dermatologie de l’hopital la Rabta de Tunis. Les criteres d’inclusion etaient cliniques, histopathologiques et immunopathologiques. Resultats Nous avons retenu 20 malades : 15 multipares et 5 primipares. L’âge moyen de debut etait de 29 ans. Le debut des signes cliniques etait au 3 e trimestre dans 60 p. 100 des cas. Cliniquement, les plaques urticariennes etaient notees dans 90 p. 100 des cas et les bulles dans 65 p. 100 des cas. L’eruption siegeait essentiellement au tronc et aux membres. Le visage etait atteint dans 7 cas, les muqueuses dans 3 cas, les paumes dans 2 cas et les plantes dans 1 cas. L’examen histologique cutane montrait une bulle sous-epidermique dans 11 cas et un infiltrat lymphohistiocytaire dermique dans tous les cas. L’immunofluorescence directe montrait une fluorescence lineaire de C3 le long de la membrane basale dans tous les cas. Le traitement etait base principalement sur une corticotherapie generale et/ou locale. L’evolution des malades a ete favorable dans tous les cas. Le pronostic fœtal a ete apprecie dans 13 cas : 1 cas de mort fœtal, 1 mort-ne, 3 fausses couches, 1 cas d’anencephalie et 2 cas d’atteinte bulleuse transitoire du nouveau-ne. Discussion Nos resultats sont comparables aux donnees de la litterature avec cependant quelques particularites : le debut tardif de la pemphigoide gravidique au cours du 3 e trimestre de la grossesse, l’atteinte frequente du visage et des muqueuses et l’absence des deux principaux risques fœtaux : prematurite et tendance a l’hypotrophie. En plus nous soulignons l’efficacite des dermocorticoides de classe I dans le traitement de la pemphigoide gravidique.

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family

BACKGROUND Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous blistering disorder of the skin and mucous membranes. DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. On the basis of the mode of inheritance and the clinical manifestations, DEB is classified into two major subtypes: one dominant (DDEB) and one recessive (RDEB). OBJECTIVE We report, here, clinical, histological and genetic investigation of a large Tunisian family presenting with a wide range of clinical manifestations of DEB and a pedigree suggestive for a pseudodominant pattern of inheritance of a recessive mutation. METHODS Indirect immunofluorescence (IF) with the antibody LH7:2 against collagen VII and electron microscopy (EM) analyses were performed. The members of the family were genotyped with five markers flanking COL7A1, and screening for the deleterious mutation by DHPLC and direct sequencing. RESULTS The family presented four pretibial DEB patients and one generalized RDEB. Molecular investigation showed that all family members, unaffected and affected by the pretibial form, were heterozygous for the c.7178delT mutation, except for the member with the generalized form who was homozygous. IF showed that heterozygous individuals, independently of their clinical status, have a slightly reduced staining, and the homozygous individual with generalized DEB has markedly reduced staining at the dermal-epidermal junction. CONCLUSION These results are suggestive for an autosomal semidominant model of inheritance with incomplete penetrance and variable expression for the identified mutation. No genotype phenotype correlation was observed suggesting the existence of other genetic determinants influencing dermo-epidermal junction cohesion.

Mélanose pustuleuse néonatale transitoire

Transient neonatal pustular melanosis is a common, benign, but little known dermatosis in newborns. Diagnosis of transient neonatal pustular melanosis is made clinically, by the presence of vesiculopustular and pigmented macular skin lesions. This benign spontaneously regressive dermatosis should be distinguished from several serious infectious neonatal diseases. We report a case of transient neonatal pustular melanosis and discuss the nosologic problems and differential diagnosis of this entity.

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis

Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy analysis, which is not always accessible. We report here a genetic investigation of DEB consanguineous families in Tunisia. A total of 23 EB families were genotyped with 5 microsatellite markers overlapping the COL7A1 gene. Among these families, 19 presented with the dystrophic form of EB, 9 were diagnosed by histopathological examination, 2 had the simplex form, 1 had a junctional EB, and 1 was affected by an unclassified form of EB. The informativeness of the markers was studied and allowed us to select three markers for genetic testing of DEB in Tunisian families at risk. Haplotype analysis and homozygosity by descent suggest that all families classified clinically as having DEB and the patient who presented with an unclassified form of EB are likely linked to the COL7A1 gene, and showed evidence for exclusion for the simplex and junctional cases. For COL7A1 linked families, two main haplotypes were shared by eight families. For all the other cases, haplotypic heterogeneity was observed, thus suggesting a mutational heterogeneity among Tunisian DEB families. The genetic results matched with the ultrastructural analysis in all the DEB families and with the clinical examination in 94.7% of all studied DEB families. This study is to our knowledge the first genetic investigation of DEB in the Maghrebian population. We propose a selection of informative markers and show the importance of haplotype analysis as a relatively easy and cost and time effective method for carrier screening and prenatal diagnosis of DEB in consanguineous families at risk.

Subepidermal bullous dermatosis with IgA antibodies against 200‐ and 280‐kDa epidermal antigens after initiation of ultraviolet B therapy for psoriasis

SIR, The simultaneous occurrence of autoimmune bullous dermatoses and psoriasis is not unusual. Bullous pemphigoid is the most frequent association observed, while other subepidermal blistering diseases such as linear IgA disease (LAD), epidermolysis bullosa acquisita and mucous membrane pemphigoid are less frequently described. Some previous case studies have reported the induction of these bullous dermatoses by psoralen plus ultraviolet (UV) A, UVB, or irritant topical treatments. We report the induction by UVB therapy (TL-01) in a psoriatic patient of an uncommon subepidermal bullous disease with both IgA and IgG antibasement membrane zone (BMZ) antibodies. Immunoblot analysis showed that the patient’s IgA bound to 200and 280-kDa epidermal antigens. A 48-year-old woman had had psoriasis since 1996. In 2001 she received acitretin and in 2002 UVB therapy, with successful results. One year later, she developed a generalized relapse of psoriasis and was again treated with UVB therapy (TL-01) starting at 0Æ2 J cm. However, after the third UVB exposure, she developed a pruritic eruption with vesicular bullae on her extremities and trunk. Psoriatic lesions were noted mainly on her trunk, elbows, sacrum and legs (Fig. 1). She also had erosions on the genital mucosa. The face and the oral mucosa were spared. The patient denied any drug intake before the onset of the bullous disease. Laboratory tests including full blood count and serum chemistry were normal. Lesional skin biopsy revealed a subepidermal blister containing numerous neutrophils. No papillary microabscesses were noted. Direct immunofluorescence showed strong linear deposition of IgA, IgG and complement component C3 at the BMZ. Indirect immunofluorescence investigation of the patient’s serum was performed on 1 mol L salt-separated skin and revealed circulating IgA and IgG autoantibodies, with a titre of 1 ⁄40 for both, that bound exclusively to the epidermal side of the split. Immunoblot analysis on normal human epidermal extracts was performed with a 6% sodium dodecyl sulphate–polyacrylamide separating gel as previously described. Serum samples from patients with bullous pemphigoid, paraneoplastic pemphigus and pemphigus foliaceus were used as positive controls. The IgA in the patient’s serum reacted with two polypeptides of molecular weight 200 and 280 kDa; reactivity against the former was stronger (Fig. 2). Immunoblot analyses using antihuman IgG did not show any reactivity with epidermal polypeptides. The patient was treated unsuccessfully with topical corticosteroids for 3 weeks. Prednisone 60 mg daily was added and cleared both bullous and psoriatic lesions without pustule formation. We describe a patient with psoriasis who developed, during UVB (TL-01) treatment, an autoimmune subepidermal blistering disease characterized by IgG and IgA anti-BMZ antibodies. The IgG autoantibodies did not recognize any antigens in epidermal extracts but the IgA reacted with two epidermal antigens of 200 and 280 kDa. These two polypeptides have been described as target autoantigens in LAD. Thus, the definite classification of the subepidermal bullous dermatosis in our patient is unclear. A diagnosis of LAD could be suggested, but the presence of concomitant IgG with IgA anti-BMZ antibodies excludes LAD according to the original definition of Chorzelski et al. in which LAD is a subepidermal autoimmune bullous disease with exclusively IgA deposition along the epidermal BMZ. However, Chan et al. described a group of LAD patients with concurrent IgG and IgA anti-BMZ antibodies and suggested that LAD should include a subgroup of patients with both IgA and IgG anti-BMZ autoantibodies. Our patient is unusual in that she developed an autoimmune blistering disease during a course of UVB treatment for psoriasis. The association of psoriasis with various autoimmune bullous disorders has often been described, most frequently with bullous pemphigoid in which there are antibodies against 230and 180kDa hemidesmosomal antigens. Kirtschig et al. described the immunological features of four patients with acquired subepidermal bullous diseases associated with psoriasis. All patients developed autoimmune blistering disease after the onset of psoriasis. UVB treatment was performed in two cases. These patients were reported to have bullous pemphigoid; however, immunoblot analysis did not show any reactivity, in either case, against bullous pemphigoid antigen 1 or 2. Interestingly, the second patient had IgA that labelled a 270 ⁄280-kDa band on epidermal extracts, which could be similar to the 280-kDa autoantigen detected in our patient. Unlike bullous pemphigoid, the coexistence of psoriasis and LAD is unusual. Takagi et al. reported the first case of LAD in a psoriatic patient with hepatitis C virus infection. This bullous disease was not triggered by UV radiation. Immunoblot analysis showed that the patient’s IgA bound to a 97-kDa autoantigen on epidermal extracts. There are several factors that may potentially have triggered the blistering disease in our case. Firstly, our patient was treated with UV radiation, which is known to induce or aggravate autoimmune bullous diseases. On the other hand, our Fig 1. Small blisters (arrows), vesicles and crusts are seen on the sacral area. Psoriatic lesions are evident on the buttocks.

Atopic Dermatitis in Tunisia

Our aim was to investigate the epidemiology and clinical features of atopic dermatitis in Tunisia. To reach this object, a retrospective multicentre study was carried out at the 7 Tunisian departments of dermatology covering a period of 5 years. We observed 1,032 cases of atopic dermatitis during the studied period. These cases represent 0.52% of all new diagnoses in the same period. The mean age at onset was 3.5 years. Atopic dermatitis began after the age of 5 years in 14.05% of patients and was assessed to be severe in 5% of cases. Atopic dermatitis seems to be less frequent in Tunisia than in western countries. Its age at onset is higher, and this may be correlated with the less severe forms of the disease seen.

Léiomyosarcome de la lèvre

Resume Introduction Le leiomyosarcome cutane primitif est une tumeur maligne rare, qui peut deriver du derme ou de l’hypoderme. Observation Nous rapportons l’observation d’un homme âge de 58 ans ayant une tumeur de la levre inferieure evoluant depuis 3 ans. L’etude histologique et immunohistochimique a montre un aspect de leiomyosarcome dermique. Discussion Le leiomyosarcome cutane primitif dermique peut se developper a partir du muscle pilo-arrecteur, du muscle lisse des glandes sudorales ou du dartos. La forme hypodermique derive du muscle lisse de la paroi des arterioles et des veinules cutanees. Le leiomyosarcome cutane primitif siege preferentiellement sur les faces d’extension des membres inferieurs et touche exceptionnellement les semi-muqueuses. Cinq cas siegeant aux levres ont ete rapportes. Dans sa localisation labiale, le leiomyosarcome dermique pourrait deriver de glandes sudorales ectopiques ou d’un envahissement par contiguite a partir d’une tumeur de la levre blanche.

Lèpre lépromateuse révélée par un œdème des mains

Resume Introduction Nous rapportons une observation de lepre lepromateuse chez une femme tunisienne revelee par un tableau clinique trompeur realisant une infiltration isolee des mains. Observation Une femme, âgee de 37 ans, consultait en octobre 2000 pour un œdeme bilateral des mains associe a des paresthesies evoluant depuis un mois. La recherche de bacilles de Hansen confirmait le diagnostic de lepre multibacillaire. Un traitement par tritherapie antilepreuse en prise quotidienne etait institue. Discussion La survenue d’un œdeme, classiquement decrit comme un des symptomes des etats reactionnels, peut se voir au cours de l’evolution d’une lepre. Lorsqu’il est inaugural, ce mode de debut inhabituel peut etre source d’erreurs et de retard diagnostique.

Ostéosarcome extra-squelettique de l'avant-bras: à propos d'une observation.

Extraskeletal osteosarcoma is a rare soft tissue tumor. We report an exceptional case located in the forearm. A 62-year-old woman consulted for a tumor of the right forearm which she had noticed for six months. Physical examination revealed a 10 x 12 cm tumor with an ulcerated center. MRI demonstrated a heterogeneous mass exhibiting no connection with the bone or subjacent periosteum. Wide surgical resection was performed. The pathology study of the operative specimen confirmed the diagnosis of soft tissue osteosarcoma. The patient was given postoperative chemotherapy and was free of local recurrence or metastasis eighteen months after surgery. We discuss the present case and review data reported in the literature.Resume L’osteosarcome extra-squelettique est une tumeur rare des tissus mous. Nous en rapportons une observation exceptionnelle par sa localisation a l’avant-bras. La patiente etait une femme âgee de 62 ans, ayant consulte pour une tumeur de l’avant-bras droit apparue depuis 6 mois. A l’examen, la tumeur de 10 x 12 cm etait ulceree en son centre. L’IRM montrait une masse tumorale heterogene sans connexion avec l’os et le perioste sous-jacent. Le bilan d’extension etait negatif. Une exerese chirurgicale large a ete realisee. L’etude anatomo-pathologique de la piece operatoire a confirme le diagnostic d’osteosarcome des tissus mous. La patiente a recu une chimiotherapie postoperatoire. Dix-huit mois apres l’intervention, il n’existait pas de recidive locale ni de metastases. Nous discutons cette observation a la lumiere des donnees de la litterature.