Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

Multiple Cutaneous Metastases in the Chest from Prostatic Carcinoma

We report a case of multiple cutaneous metastases from prostate cancer. A 78-year-old man with an 8-year history of prostate cancer had multiple nodular lesions in the chest. Histologically, the lesion showed an abortive glandular lumina and tall columnar cells with abundant cytoplasm. Immunohistochemical staining for AE1:AE3 cytokeratin cocktail, prostate-specific antigen, and prostate-specific acid phosphatase was positive in tumor cells, confirming the diagnosis of cutaneous metastases from prostate cancer. We report this case because of the rarity of cutaneous metastases from prostatic adenocarcinoma in the chest region.

Epidemiological study of Italian patients with Fabry disease.

Norwegian (crusted) scabies of glans penis in an immunocompetent patient

Symptomatic hypoglycemia in children receiving oral purine analogues for treatment of childhood acute lymphoblastic leukemia

Background Antimetabolite-based continuation therapy is commonly used for childhood acute lymphoblastic leukemia (ALL) and hypoglycemia after prolonged fasting has been recently reported. We have found that spontaneous, symptomatic hypoglycemia (SH) may also occur in such patients. Procedure Between 1995 and 1999, patients treated according to the AIEOP-ALL-95 study received BFM-type intensive chemotherapy; mercaptopurine (6-MP) was given (60 mg/m2/days, orally for 14 days) during the second part of induction and during consolidation therapy (25 mg/m2/day, orally for 8 weeks); thioguanine (6-TG) was given during reinduction therapy with protocol II (60 mg/m2/day, orally for 14 days); contin…

Fabry disease: enzyme replacement therapy

Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide, galabiosylceramide and two additional glycosphingolipids. Four hemizygotes patients with a family history of Fabry disease and deficiency of the enzyme alpha-galactosidase A were selected. Each patient received purified alpha-galactosidase by intravenous infusion (0.2 mg/kg). The infusion was administered every 2 weeks, for 40 min, for a …

Road Traffic Pollution and Childhood Leukemia: A Nationwide Case-control Study in Italy

Background The association of childhood leukemia with traffic pollution was considered in a number of studies from 1989 onwards, with results not entirely consistent and little information regarding subtypes. Aim of the study We used the data of the Italian SETIL case-control on childhood leukemia to explore the risk by leukemia subtypes associated to exposure to vehicular traffic. Methods We included in the analyses 648 cases of childhood leukemia (565 Acute lymphoblastic–ALL and 80 Acute non lymphoblastic-AnLL) and 980 controls. Information on traffic exposure was collected from questionnaire interviews and from the geocoding of house addresses, for all periods of life of the children. Re…

A Rare Presentation of Mycosis Fungoides Mimicking Psoriasis Vulgaris

Mycosis fungoides (MF) is an uncommon primary cutaneous lymphoma with a wide spectrum of clinicopathological manifestations. Diagnosis can be difficult in its early stages given the considerable overlap with more common benign dermatoses. We report an unusual case of MF in a 52-year-old male presenting with psoriasiform plaques on the palms and the soles who rapidly developed additional lesions on the scalp, limps and trunk. Punch biopsy of the face was obtained for routine histology and immunohistochemical stains. Chest X-ray, total body computed tomography scanning and excisional biopsy of the inguinal lymph node were performed. Review of the face biopsy revealed a diffuse dermal infiltra…

A single high dose of idarubicin combined with high-dose ARA-C for treatment of first relapse in childhood ‘high-risk’ acute lymphoblastic leukaemia: a study of the AIEOP group

The outcome of children with acute lymphoblastic leukaemia (ALL) and early relapse remains unsatisfactory. In January 1995, the AIEOP (Associazione Italiana di Oncologia ed Ematologia Pediatrica) group opened a trial for children with ALL in first isolated or combined bone marrow relapse defined at high risk according to the length of first remission and the immunophenotype. The treatment plan included the combination of a single high-dose idarubicin and high-dose cytarabine as induction therapy followed by an intensive consolidation and stem cell transplant (SCT). In total, 100 children from 16 Italian centres were enrolled; 80 out of the 99 evaluable patients (81%) achieved second complet…

Combined treatment of epidermodysplasia verruciformis with etretinate and α-interferon*

Epidermodysplasia verruciformis (EV) is an uncommon cutaneous disease in which a focal and genetically determined immunological impairment is associated with chronic human papilloma virus (HPV) infection. In sun-exposed areas, when an oncogenic HPV type is the agent, skin cancer may occur. The treatment of EV is difficult and often unsatisfactory; etretinate has been reported in some instances as effective in improving lesions. We report a typical case of EV with pityriasis versicolor-like lesions on the trunk and many flat, erythematous wart-like lesions on the face, dorsal areas of the hands and legs. We performed a treatment with etretinate (1 mg/kg/day for 6 weeks) and subsequently with…

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic stem‐cell transplantation. Since 1999, mutations in the perforin gene giving rise to this disease have been identified; however, these account only for 40% of cases. Lack of a genetic marker hampers the diagnosis, suitability for transplantation, selection of familial donors, identification of carriers, genetic counselling and prenatal diagnosis. Mutations in the Munc13–4 gene have recently been des…

Reflectance mode confocal microscopy and digital image analysis in naevus of Hori and pathogenetic evaluation

Proliferating tricholemmal tumour with lymph node metastases

SUMMARY A 42-year-old woman with a proliferating tricholemmal tumour (PTT) with regional lymph node metastases is reported. Histochemical studies showed evidence of tricholemmal keratinization. There was recurrence following excision and subsequently the patient developed lymph node metastases.

Localized crusted scabies in the acquired immunodeficiency syndrome

Summary Crusted scabies (CrS) is an uncommon occurrence among patients with AIDS. Indeed to date only five cases have been described, all with widespread lesions. A case of localized CrS appearing as a yellowish and crusted plaque on the second right toe is reported in a woman with AIDS. Scraping off the verrucous surface, as well as punch-biopsy revealed many mites within the horny layer. The infestation is related to the cutaneous immune response and thus CrS should be considered an opportunistic infestation in AIDS. The importance of the early diagnosis of CrS in order to prevent disseminated lesions and involvement of other health-care workers is underlined.

Granulomatous slack skin: report of a case associated with Hodgkin's disease and a review of the literature.

We report a case of granulomatous slack skin (GSS) associated with Hodgkin's disease, and review the literature on this entity. GSS, a variant of cutaneous T-cell lymphoma, clinically presents with erythematous patches in the flexures, which gradually transform into bulky, pendulous areas of skin. Histology shows an elastolytic granulomatous infiltrate, with atypical lymphoid cells, and occasional epidermotropism. As far as we are aware, 10 cases of GSS, including our patient, have been reported in detail. The male:female ratio of these cases is 9:1, and the age range 15-51 years. Five cases were associated with Hodgkin's disease, one with small lymphocytic lymphoma, and one developed cutan…

The behaviour of Bcl-2, Bax and Bcl-x in Darier's disease

SummaryBackground Darier's disease (DD) is a rare autosomal dominant disorder of keratinization caused by a mutation of the ATP2A2 gene. There is little information on the behaviour of Bcl-2, Bax and Bcl-x in DD. Objectives To investigate the dynamic control and the behaviour of Bax, Bcl-2 and Bcl-x in DD. We asked whether members of the Bcl-2 family might manifest their effects through modulation of intracellular calcium signalling or whether the gene that encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2) modulates the Bcl-2 family in the regulation of apoptosis in DD. Methods Immunohistochemical methods were used. Results There was no immunoreactivity for Bcl-2 and Bc…

Naevus Comedonicus Immunohistochemical Features in Two Cases

Sir, Naevus comedonicus was first described by Kofmann in 1895 (1). It was arranged in groups or linear patterns along Blaschko’s line and located on the face, neck, upper arms, chest and abdomen. It has been well documented that naevus comedonicus occurs as a single entity but occasionally in association with other disorders. The objective of this study was to analyse the clinical and immunohistochemical features of two patients with extensive naevus comedonicus arranged in groups and linear patterns without non-cutaneous abnormalities.

Adalimumab for treatment of moderate to severe psoriasis and psoriatic arthritis

Psoriasis and psoriatic arthritis are common diseases associated with considerable morbidity and disability. Their pathophysiology comprises similar processes leading to inflammation of skin, entheses, and joints. Although traditional systemic agents can be effective, their use may be limited by lack of efficacy and concerns regarding adverse effects. The objective of this study was to assess the efficacy and safety of adalimumab, a fully human antitumor necrosis factor (anti-TNF) monoclonal antibody, over 16 weeks. The present authors report their personal experience in 15 patients with severe plaque psoriasis and psoriatic arthritis, refractory to other treatments, in which a decisive reg…