Search

Background: Major histocompatibility complex class II deficiency, also referred to as bare lymphocyte syndrome is a rare primary Immunodeficiency disorder characterized by a profondly deficient human leukocyte antigen class II expression and a lack of cellular and humoral immune responses to foreign antigens. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections. The infections begin in the first year of life and involve usually the respiratory system and the gastrointestinal tract. Severe malabsorption with failure to thrive ensues, often leading to death in early childhood. Bone marrow transplantation is the curative treatment., Case Reports: Here we report two cases with a late outcome MHC class II deficiency. They had a long term history of recurrent bronchopulmonary and gastrointestinal infections. Bone marrow transplantation could not be performed because no compatible donor had been identified. At the age of 12 years, they developed oral papillomatous lesions related to HPV (human papillomavirus). The diagnosis of HPV infection was done by histological examination. HPV typing performed on the tissue obtained at biopsy showed HPV type 6. The lesions were partially removed after two months of laser treatment., Conclusions: Viral infections are common in patients with MHC class II and remain the main cause of death. Besides warts caused by HPV infection do not exhibit a propensity for malignant transformation; they can cause great psychosocial morbidity.

Background: Pemphigus is a life-threatening autoimmune blistering disease mediated by autoantibodies against adhesion molecule of the skin. Its concurrence with systemic and organ-specific autoimmune disease was described in case reports., Objectives: To evaluate the presence of a broad spectrum of organ-specific and non-organ-specific autoantibodies other than anti-desmoglein antibodies in pemphigus patients., Patients and Methods: Serum samples were obtained from 105 pemphigus foliaceus (PF) patients, 51 pemphigus vulgaris (PV) patients and 50 controls. Both indirect immunofluorescence assay and ELISA were used to assess the presence of autoantibodies related to connective tissue diseases, autoimmune hepatitis, vasculitis, rheumatoid arthritis, coeliac disease, diabetes and thyroiditis., Results: Significant difference was observed between the three groups for anti-thyroglobulin antibodies in the pemphigus foliaceus group (18% vs. 4%, P=0.03). A significantly higher occurrence of IgM anti-cardiolipin (P=0.03), IgG anti-reticulin (P=0.01) and IgG anti-gliadin antibodies (P=0.008) were observed in the PV group. Cases with more than four autoantibodies were frequently positives for both anti-desmoglein 1 and anti-desmoglein 3., Conclusion: Autoantibodies other than anti-desmoglein antibodies are not rare in pemphigus patients. Clinical and serological follow-up of pemphigus patients with positive autoantibodies are needed to clarify their impact in disease evolution., (© 2010 The Authors. Journal of the European Academy of Dermatology and Venereology © 2010 European Academy of Dermatology and Venereology.)

Background: Haemorrhagic erysipelas is a recently described clinical condition., Aim: Our aim is to study the clinical and evolutive particularities of haemorrhagic erysipelas treated with adjuvant corticotherapy., Methods: It's a retrospective study of 6 cases of erysipelas of the lower limbs with serious local signs (purpura, bullae, petechia)., Results: Surgical examination as well as evaluation of muscular enzymes blood level were achieved in all cases. Adequate antibiotherapy and rapidly degressive systemic corticosteroids (0.5 mg/Kg daily) were prescribed. Fever, pain and cutaneous signs regressed rapidly. Haemorrhagic erysipelas is different from common erysipelas by the presence of serious local signs (bullae, purpura), by its bad response to adequate antibiotics and by its response to systemic steroids.

Aims: To study by flow cytometry (FCM) the ploidy and the cellular cycle of nodular hidradenoma (NH) and hidradenocarcinoma (HC) and to assess the prognostic utility of this technique in such tumors., Methods: We studied retrospectively 2 HC and 11 NH one of which was considered as an atypical NH. Monoparametric study by FCM was realized on paraffin-embedded material. The extracted cells were marked by Propidium's lodure and cellular cycle was analyzed by the software Mod-Fit LT., Results: Our study showed eleven 100% diploid profiles, 10 of which had low S-phase varying between 2 and 12%. All of these 11 tumors were NH. S-phase was high (23.79%) in a single case that corresponded to the atypical NH. Two tumors showed aneuploid profiles; these corresponded to the 2 HC., Conclusion: The results of the cytometric study suit perfectly to those of the histopathologic examination. FCM could so help to establish the prognosis of these tumors. But further studies are necessary to determine the value of this technique.

Aims: To study the immunohistochemical expression of HHV8 in Kaposi's lesions and in other vascular lesions and to determine the utility of this technique in differentiating between Kaposi's disease (KD) and other vascular lesions., Methods: Fixed, paraffin-embedded tissue sections from 25 cases of KD, 9 cases of hemangioma, 2 cases of angiolymphoid hyperplasia with eosinophilia and 9 cases of angiosarcoma were examined immunohistochemically using the monoclonal antibody monoclonal LNA 53 (ABI). Strong, nuclear and granular staining in at least a cell was considered as a positive result., Results: Sixteen cases of KD showed positive staining, whereas all cases of hemangioma, angiolymphoid hyperplasia with eosinophilia and angiosarcoma were negative for this antigen, Conclusion: Immunohistochemical detection of the human herpesvirus-8 latent nuclear antigen-1 is a useful for differentiating between KD and other vascular lesions.

Syringocystadenoma papilliferum (SCAP) is a rare cutaneous adnexal neoplasm with variable clinical appearance and characteristic histology. It arises in about one third of cases within a sebaceous hamartoma (SH) and in this case, multiple other benign adnexal neoplasms may be associated with it. We report the clinical and pathological data of 8 cases of syringocystadenoma papilliferum. The age at the time of the diagnosis varied from 3 to 48 years with an average age of 28 years. Three tumors were localized in the scalp, 2 in the trunk, and 3 others of unusual locations: 1 in the eyelid, 1 in the thigh and 1 in the popliteal fossa. Histopathological examination revealed 3 SCAP occurring within SH. The SCAP observed in the eyelid was associated with an apocrine cystadenoma without features of SH. The four others were not associated with any other lesion.

We describe the histomorphometric changes in the superficial peroneal nerve biopsy from 13 patients with xeroderma pigmentosum (XP). The mean age at time of biopsy was 15 yr (range 2.5-24 yr). The clinical examination was normal in the two youngest patients and showed absence of the deep tendon reflexes, with choreo-athetosis in ten patients. In addition, in the three oldest patients there were cerebellar signs, ataxia and Babinski signs. The nerve biopsy showed an age-dependent decrease of myelinated fibres, which was mild in the youngest and severe in the oldest patients. This was associated with rare acute axonal degeneration, sparse axonal regeneration, rare axonal atrophy and few onion bulb formations. These findings suggest a neuropathic process. This neuronal degeneration seems to be a progressive and stereotyped phenomenon in XP.