A. Ben Osman

A novel missense mutation in the gene encoding SLURP‐1 in patients with Mal de Meleda from northern Tunisia

Background  Mal de Meleda (MDM) is a rare autosomal recessive skin disorder which belongs to the clinically and genetically heterogeneous group of palmoplantar keratodermas (PPK). Clinically, MDM is characterized by erythema and hyperkeratosis of the palms and soles with sharp demarcation that appears soon after birth and progressively extends to the dorsal surface of the hands and feet.

Metabolic syndrome in Tunisian psoriatic patients: prevalence and determinants.

Background  A significant association between psoriasis and the metabolic syndrome (MetS) has been frequently reported.

Tunisian endemic pemphigus foliaceus is associated with the HLA-DR3 gene: anti-desmoglein 1 antibody-positive healthy subjects bear protective alleles.

Background  Pemphigus foliaceus is an autoimmune blistering skin disease that partly results from genetic factors, especially human leucocyte antigen (HLA) class II genes.

Involvement of granzyme B and granulysin in the cytotoxic response in lichen planus

Background:  Lichen planus is an inflammatory dermatosis involving either skin and/or mucosal epithelial surfaces. A cell‐mediated cytotoxicity response is the main suspected mechanism of this dermatosis. Granzyme B and granulysin are components of the cytoplasmic granules of cytotoxic T lymphocytes and natural killers. They are involved in cell‐mediated apoptosis. This work studies the possible implication of granzyme B and granulysin in the cell‐mediated cytotoxicity response in lichen planus.

Anti‐desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non‐endemic areas from Tunisia

Background  Pemphigus foliaceus is an autoimmune blistering skin disease characterized by the production of pathogenic IgG autoantibodies directed against desmoglein 1.

Genome‐wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families

Background  Psoriasis is a relapsing chronic inflammatory skin disease affecting all population groups, with a peak prevalence of 3% in northern European and Scandinavian caucasians. Epidemiological studies have implicated a genetic component to psoriasis. In the past 12 years multiple genome‐wide linkage analyses have identified putative susceptibility loci on several chromosomes, with a major locus in the major histocompatibility complex region.

Heterozygous manifestations in female carriers of Mal de Meleda

To the Editor: Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens was first described in 1826 in the island of Mljet, Croatia, and diagnostic criteria for the disease were established in 1969 by Schnyder et al. (1). MDM has been classified among various forms of diffuse palmoplantar keratodermas (PPKs) that primarily affect the palms and soles and involve skin thickening and hyperkeratosis. Clinically, symptoms of MDM usually appear in early infancy and are typically characterized by an erythema and hyperkeratosis of palms and soles with sharp demarcation that progress with age (known as progrediens) and extend to the dorsum of the hands and feet (known as transgrediens) (1, 2). The palmoplantar hyperkeratosis is accompanied by hyperhidrosis and painful fissures. Other associated findings include nail abnormalities, keratotic plaques over the joints, perioral erythema, brachydactyly, and pseudoainhum (3). No other organ is involved by the pathologic process. Histopathologically, hyperkeratosis, acanthosis, and foci of parakeratosis are seen (4). Several clinical presentations of the disease were described in patients with various ethnic backgrounds and geographic origins (5). Although MDM is relatively rare in the general population, it occurs with a high frequency in some communities (6, 7), particularly in the Mediterranean area and in the Middle East (8–10). MDM is inherited in an autosomal recessive mode. The gene responsible for MDM, ARS (component B)-81/s, has been identified on chromosome 8qter using homozygosity mapping (10, 11). The ARS gene encodes the SLURP-1 protein (Ly-6/uPAR-related protein-1) (12). Various causative mutations within the ARS gene have been identified in different populations (5, 8, 12). We have recently demonstrated that three different homozygous mutations (82delT, C77R, and C99Y) are responsible for MDM disease in 17 patients belonging to eight consanguineous families from Northern Tunisia (13). During clinical assessment of MDM families in Tunisia, we realized that some family members, usually female obligate carriers (i.e. unaffected mothers of affected individuals assuming genetic full penetrance), presented with minor clinical signs. To further investigate these clinical features, all available family members were examined.

Localized pemphigus: a report of three cases

Localized pemphigus: a report of three cases Dear Sir, Pemphigus is an acquired autoimmune blistering disease. It is characterized by skin and mucous membrane lesions usually spread out and rarely localized. The pathophysiology of localized pemphigus (LP) is not clearly established even though several hypotheses have been suggested. A certain number of LP cases that have developed on burns, electrocoagulation, or surgical scars, have been reported in the literature suggesting a Koebner-like phenomenon. Other authors incriminated handling of pesticides and chemicals. Recently, two cases of localized contact pemphigus had been observed following the application of ketoprofene gel and imiquimod. We describe herein three cases of LP: two cases of pemphigus foliaceous (PF) located, respectively, on the scalp and face, and one case of pemphigus vulgaris (PV) on the scalp. Clinical and laboratory findings of our patients are reported in Table 1; Fig. 1. In the course of pemphigus, the lesions may remain localized before spreading over the whole integument but it is exceptional that the condition remains localized over 5 months. Reviewing the literature, we registered only 33 cases of LP, namely 21 PV and 12 PF. In our department, between 1980 and 2006, only four cases of LP were registered among 151 cases of pemphigus (one PV of the temple already published and the remaining three cases are reported here). These findings suggest the rarity of this entity. In pemphigus, according to the extension of the skin lesions, a spectrum of forms has been individualized ranging from a localized minor form to an extensive one. Localized PV prevails on the oral mucous membranes (eight cases), the nose (five cases), and the scalp (five cases), whereas the PF involved essentially the face (nine cases) (nose: six cases). This high frequency of LP involving the face can be explained by the role of the ultraviolet (UV) radiation. It has been reported experimentally that UV radiation induced an acantholysis in patients affected with pemphigus; clinical exacerbation of the disease after sun exposure is sometimes seen in practice. Both localized PV and PF were mainly observed in adults [mean age about 46.4 years (21–76 years) and 49.9 years (27–81 years)], with no sex preponderance. The clinical distribution of lesions in pemphigus is directly

Anti-desmoglein-1 antibodies are prevalent in Tunisian patients with hydatidosis and leishmaniasis.

1 Mouton RW, Jordaan HF, Schneider JW. A new type of minocycline-induced cutaneous hyperpigmentation. Clin Exp Dermatol 2004; 29:8–14. 2 Pandit S, Hadden W. Black pigmentation of bone due to long-term minocycline use. Surgeon 2004; 2:236–7. 3 Birkedal C, Tapscott WJ, Giadrosich K et al. Minocycline-induced black thyroid gland: medical curiosity or a marker for papillary cancer? Curr Surg 2001; 58:470–1. 4 Gerson DM, Robinson M. Black pigmentation of atherosclerotic plaques associated with chronic minocycline therapy. Cardiovasc Pathol 2006; 15:168–70. 5 Fakhfakh AC, Humbert P, Aubin F. Cutaneous pigmentation induced by minocycline: ultrastructural analysis and X-ray microanalysis. Ann Dermatol Venereol 1992; 119:975–9. 6 Sant’Ambrogio S, Connelly J, DiMaio D. Minocycline pigmentation of heart valves. Cardiovasc Pathol 1999; 8:329–32.

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.