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BACKGROUND: The use of highly active antiretroviral therapy (HAART) has been associated with a marked decrease in the prevalence of opportunistic infections in HIV-infected patients. However, chronic mucocutaneous herpes simplex virus (HSV) infection remains a difficult clinical challenge. OBJECTIVE: The aim of the study was to optimize the diagnosis and follow-up of chronic HSV-2 infection in HIV-infected patients and to correlate clinical data with CD4 cell count, in vitro HSV virological resistance and histology. METHODS: A retrospective case series was collected from a specialist out-patient clinic providing consultations to patients with infectious skin diseases. Clinical, biological, virological and histological data were analysed. RESULTS: Seven HIV-infected patients with genital and perianal herpes simplex infection were followed over 10 years. Ulcerative and pseudo-tumoral forms were observed. Lesions occurred at various stages of immune suppression (CD4 counts from 1 to 449 cells/µL). Clinical resistance to conventional anti-herpetic drugs was correlated with the in vitro resistance of HSV in 70% of cases. CONCLUSIONS: Chronic mucocutaneous HSV infection in AIDS patients remains a rare but regularly observed infection in very immunosuppressed patients or those with unstable immunity during HAART. Virological results obtained from mucocutaneous samples were in most cases found to be correlated with clinical evolution and should therefore be used in making decisions on treatment. Despite efficient antiviral therapy, mucocutaneous healing is slow in the majority of cases.

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BACKGROUND: Pemphigus herpetiformis (PH) is a rare dapsone-responsive variant of pemphigus, characterized by annular and vesiculopustular cutaneous lesions. Most PH serum samples contain autoantibodies against desmoglein (Dsg)1, but not Dsg3, and the presence of the latter is almost invariably associated with mucosal involvement, as predicted based on the 'Dsg compensation theory'. METHODS: We describe a patient with features characteristic of PH with histologically eosinophilic spongiosis who repeatedly tested positive for anti-Dsg3 but not anti-Dsg1 autoantibodies by ELISA. To investigate whether the peculiar clinical phenotype was due to a distinct immunological profile, the patient's serum was tested by ELISA and immunoblotting using recombinant forms of Dsg3. RESULTS: Serum samples were found to have low and high reactivity against the EC1 and the EC4 domains of Dsg3, respectively, whereas the autoantibodies belonged predominantly to the IgG1 and IgG4 subclasses. The overall immunological profile was typical of pemphigus vulgaris. The patient finally developed isolated oral erosions 22 months after initial presentation, without significant changes in the autoantibody profile and of the targeted antigenic sites. CONCLUSIONS: Our patient presented features characteristic of PH. Although circulating anti-Dsg3 antibodies were present, the patient had only cutaneous involvement for a long period. Our findings indicate that the proposed Dsg compensation theory cannot always explain the clinical phenotype, changes in which may occur without apparent modification of the autoantibody profile and antibody specificity. Hence, additional factors, such as Fcgamma-dependent neutrophil activation, may critically affect the clinical presentation of pemphigus.

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BACKGROUND: Scleroedema adultorum Buschke (SB) is a rare disease involving scleroedema of the neck and shoulders. It can extend to the rest of the trunk and the limbs but characteristically spares the extremities. Three types of SB are distinguished: the first is acute and develops after an infectious disease, the second is of insidious evolution and is associated with monoclonal gammopathy, and the third is associated with type 2 diabetes. PATIENTS AND METHODS: We report the case of a type 2 diabetic patient presenting with progressive, oedematous timbering of the trunk associated with impaired mobility, dysphagia and restrictive respiratory syndrome. SB was diagnosed on the basis of clinical presentation and histology. Treatment was mandatory because of the adverse impact of the disease. A therapy that would not worsen the patient's comorbidities had to be chosen. Intravenous immunoglobulins were thus initiated with excellent response as of the first cycle regarding trunk mobility and dysphagia. Cutaneous rigidity improved steadily until the end of treatment (eight cycles). CONCLUSION: Therapeutic abstention is the rule in SB if it has no severe functional repercussions. Nevertheless, there is no clearly indicated treatment once therapy becomes necessary. Control of underlying diabetes usually does not improve the scleroedema and the metabolic syndrome contraindicates most of the treatments reported in the literature. In this article, we suggest a new treatment of SB in the diabetic patient.

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Skin localizations in disseminated tuberculosis may present a clinical resistant evolution. An 81-year-old woman, treated by long-term steroids and methotrexate for rheumatoid polyarthritis, developed a disseminated tuberculosis in chest, bones and skin. While pulmonary symptoms quickly improved under conventional tuberculostatic drugs, skin ulcers showed positive cultures for 5 months and healed after 12 months of treatment.

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A new entity was described by Crickx et al. in 1991, associating amicrobial pustulosis of the folds with systemic lupus erythematosus in young females. It is proposed to regroup this entity under the name of 'neutrophilic cutaneous lupus'. We report a case of a 13-year-old girl with a pustular eruption of the cutaneous folds and scalp associated with undetermined connective tissue disease. We performed a screening for the expression of 174 cytokines in the pustules and compared it with other pustular diseases (acne flare, acute generalized exanthematous pustulosis, pustulosis of Sneddon and Wilkinson). Matrix metalloproteinase 9 and Siglec-5 (CD170) were highly expressed in all types of pustules and reflect high neutrophil density. Amicrobial pustulosis of the folds was characterized by a higher expression of interleukin (IL) 1alpha, IL-2 receptor alpha, macrophage colony-stimulating factor, insulin-like growth factor binding protein 1, brain-derived neurotrophic factor, tumour necrosis factor (TNF) alpha and a lower expression of CD14, IL-1beta, IL-12, soluble TNF receptors I and II, growth-regulated oncogene alpha, fibroblast growth factor 4 and vascular endothelial growth factor as compared to the controls.

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Sirolimus is an immunosuppressive macrolide with antineoplasic properties that is increasingly used in posttransplantation immunosuppression. The treatment is frequently associated with cutaneous side effects such as sirolimus-associated acneiform facial dermatitis, which has been observed in up to 50% of treated patients. We report a 51-year-old female with liver transplantation who developed inflammatory papules and nodules on the face and the upper chest 3 weeks after the initiation of sirolimus therapy. Sequential biopsies revealed lymphocytic infiltration of the dermis with a peculiar pattern of sebotropism, while older lesions showed acquired reactive perforating collagenosis. The lesions were responsive to hydroxychloroquine treatment despite continued sirolimus treatment.

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Erlotinib is a small molecule tyrosine kinase inhibitor that is used as an anticancer agent. Most patients develop a pustular facial dermatitis within the first week of treatment. Pyogenic granulomas of the nail folds are another typical adverse event occurring in about 10-15% of cases. We report on a patient who developed a generalized dermatitis characterized by neutrophilic spongiosis. Neutrophilic inflammation has been observed in several drugs that interfere with EGFR signaling, suggesting a class effect. The present case may be yet another manifestation of this particular reaction pattern.

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BACKGROUND: Eruptive epidermolysis bullosa (EB) naevi comprise a subset of melanocytic naevi with atypical features that characteristically occur in areas of former blistering in patients suffering from hereditary EB. OBSERVATION: The case is reported of a girl who presented with pruritus, blistering and erosions of the vulval region. Clinical and immunopathological features were consistent with the diagnosis of childhood vulval pemphigoid. In the course of the disease, she developed an atypical melanocytic naevus on the left labium at a site of former blistering. Although its clinical and dermoscopic features resembled malignant melanoma, the lesion completely regressed clinically during the 24-month follow-up. CONCLUSION: This is the first report describing the development of a melanocytic naevus at sites of blistering in an auto-immune subepidermal blistering disease in childhood. Our observation extends the spectrum of disorders, in addition to the group of congenital EB, in which 'eruptive' atypical melanocytic naevi may occur. Knowledge of this complication is important for appropriate management and follow-up and to avoid radical surgery.

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Multiple miliary osteoma cutis of the face represents a rare and frequently unrecognized complication of chronic inflammatory acne. Their differentiation from microcomedones and macrocomedones may be challenging. The case of a 46-year-old Asian woman who suffered from chronic inflammatory acne is described. She had multiple papular lesions of the cheeks that did not respond to various topical and systemic therapies including oral isotretinoin. Light microscopy studies as well as ultrasound and computed tomography (CT) scan investigations demonstrated the presence of multiple osteoma cutis. Needle microincisions followed by mechanical extirpation of the bony formation resulted in a considerable cosmetic improvement of her skin disease. Knowledge of this rare complication of acne is mandatory, as its treatment is different from that of retentional and inflammatory acne and frequently relies on surgical modalities. Our novel technique consisting of needle microincisions with curettage of the lesions is simple and safe, leading to good cosmetic results.

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Coumarins and heparins are commonly used for temporary or long-term anticoagulation. These molecules have potentially devastating side-effects, including widespread skin necrosis. We report the case of an elderly patient under oral anticoagulation with coumarins, who developed widespread necrotic cutaneous lesions upon introduction of intravenous and subcutaneous unfractionated heparin administration for a surgical procedure. Laboratory investigations revealed the presence of circulating antibodies directed against heparin-platelet factor 4. The lesions slowly resolved after withdrawal of heparin, whereas oral coumarin was re-introduced without complications. This case illustrates the rare occurrence of skin necrosis as a result of unfractionated heparin in a patient under chronic coumarin medication. Recognition of this rare complication and appropriate laboratory testing is mandatory for prompt institution of alternative anticoagulant therapies.

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BACKGROUND: Palmoplantar keratodermas (PPK) encompass a large genetically heterogeneous group of diseases associated with hyperkeratosis of the soles and/or palms that occur either isolated or in association with other cutaneous and extracutaneous manifestations. Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK. OBSERVATION: We have identified a patient with a focal non-striated form of PPK associated with discrete troubles of keratinisation at sites exposed to mechanical trauma, such as the knees, ankles or finger knuckles, and with mild nail dystrophy. Genetic analyses disclosed a novel dominantly inherited heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon. The mutation was also present in the father and in a sister. CONCLUSION: Our observation extends the spectrum of clinical features associated with genetic defects in DSG1 and provides further evidence that perturbation of desmoglein 1 expression has a critical impact on the integrity of tissues experiencing strong mechanical stress.

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BACKGROUND: Amicrobial pustulosis of the folds is a recently described entity characterized by relapsing pustular lesions involving predominantly the cutaneous folds and the scalp. The disease typically occurs in the context of an autoimmune or systemic disease and should be included within the spectrum of neutrophilic dermatoses. OBSERVATION: We describe a patient with a history of systemic lupus erythematosus, who developed amicrobial pustulosis of the folds. Strikingly, the patient also exhibited recurrent oral and gastrointestinal manifestations that paralleled the course of the cutaneous signs. CONCLUSIONS: Our observation indicates that, in analogy to the other neutrophilic dermatoses, amicrobial pustulosis of the folds can also be complicated by the development of extracutaneous neutrophilic involvement, knowledge of which is critical for its diagnosis and proper management.

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Calcifying panniculitis is a rare form of calcinosis cutis belonging to the spectrum of calciphylaxis that has almost invariably been described in patients with severe renal disturbances. We report a patient with osteomalacia without chronic renal failure, who developed calcifying panniculitis following subcutaneous administration of nadroparin-calcium. Light microscopy studies of biopsy specimens revealed multiple foci of microcalcification within the adipose lobules, in the interadipocyte spaces, in connective tissue septa and in the media of small arteries in the subcutis. The patient had an elevated level of intact parathyroid hormone, whereas the calcium-phosphorus product was normal. The lesions slowly resolved upon discontinuation of nadroparin. We conclude that calcifying panniculitis is a rare complication associated with the subcutaneous administration of nadroparin-calcium that may rarely also occur in the absence of renal disturbances. Low molecular weight calcium-containing heparins should probably be used with caution in the presence of hyperparathyroidism.

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BACKGROUND: ERBIN is a binding partner of Erb-B2, an orphan receptor within the Erb-B family critically involved in the regulation of cell growth and differentiation. Although its function remains unclear, ERBIN is thought to affect the polarity of epithelial cells and cell growth via the Ras signalling pathway. OBJECTIVES: To examine and compare the tissue distribution and the expression levels of ERBIN and Erb-B2 in normal skin and in cutaneous carcinomas. METHODS: Fifteen cases of basal cell carcinoma (BCC), 12 cases of squamous cell carcinoma (SCC) and five cases of keratoacanthoma (KA) were analysed by immunohistochemistry on paraffin-embedded sections using anti-ERBIN and anti-Erb-B2 antibodies. RESULTS: ERBIN and Erb-B2 had a similar distribution in normal human skin. They were primarily localized at the plasma membrane in differentiated keratinocytes and in duct cells from eccrine glands, whereas they were localized diffusely in the cytoplasma of basal keratinocytes. In both SCC and KA the subcellular distribution of ERBIN and Erb-B2 remained unchanged, whereas both proteins were redistributed from the plasma membrane into cytosolic aggregates in BCC. CONCLUSIONS: The subcellular localization of ERBIN in normal human skin is similar to that of Erb-B2 and varies with cell differentiation. Based on our findings and on the biological activities of Erb-B2, it is conceivable that disturbed expression or functioning of ERBIN and Erb-B2 is implicated in the development of the malignant phenotype of BCC.

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We report an illustrative case of an apparently healthy 38-year-old man with a past history of alopecia universalis who developed extensive, slightly pruritic, infiltrated annular verrucous lesions of the scalp, perioral, lumbar, perianal and genital areas over a 6-month period. The combination of an unusual clinical presentation, positive syphilis serology and rapid response to penicillin therapy was consistent with a diagnosis of extensive annular and verrucous late secondary syphilis. We present this case to illustrate a rare and potentially misleading clinical feature of late secondary syphilis, a disease considered to be of the past but still present in today's practice.

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BACKGROUND: Localized vulval childhood pemphigoid is a rare variant within the pemphigoid group. Although its prognosis seems favorable, the best therapeutic strategy remains unclear. OBSERVATION: We here describe the case of an 8-year-old girl presenting with a 5-year history of relapsing vulval pain and lesions suggestive of lichen sclerosus. Clinical features, light microscopy and direct immunofluorescence microscopy were consistent with vulval cicatricial pemphigoid, although the autoantigen(s) involved could not be characterized. Her disease responded to treatment with topical tacrolimus ointment 0.1% within 3 months without any evidence for disease activity, except for slight residual scarring. After 12 months, her treatment was stopped without relapse. CONCLUSION: This observation suggests that in this rare immune-mediated blistering disease topical tacrolimus is an interesting therapeutic option without the adverse effects associated with topical steroids.

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Amyloid elastosis is a rare variant of primary systemic amyloidosis characterized by amyloid deposited around elastic fibres. Only two cases, with pseudoxanthoma elasticum-like features and fatal outcome, have been reported. A 56-year-old woman presented with polyneuropathy and a diffuse plane xanthoma-like eruption. Light and electron microscopy studies revealed deposits of amyloid L encasing either normal-looking or short, fragmented elastic fibres in the dermis in a pattern characteristic of amyloid elastosis. The patient had medullary plasmocytosis with lambda light chain restricted expression and underwent autologous stem cell transplantation, which resulted in progressive regression of mucocutaneous signs and stabilization of the polyneuropathy. Our case extends the spectrum of clinical and histopathological presentations of amyloid elastosis. Haematopoietic cell transplantation might improve outcome in patients with multisystem disease.

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