Real-time, non-invasive microscopic confirmation of clinical diagnosis of bullous pemphigoid using in vivo reflectance confocal microscopy.

BACKGROUND: Bullous pemphigoid is an autoimmune disease affecting prevalently the elder. In vivo reflectance confocal microscopy is a non-invasive technique for real-time imaging of the skin with cellular-level resolution. No previous data has been reported about confocal microscopy of bullous pemphigoid. Aim of this preliminary study is the evaluation of the potential of in vivo reflectance confocal microscopy for real-time, microscopical confirmation of clinical bullous pemphigoid diagnosis. METHODS: A total of nine lesions from patients affected by pemphigoid underwent in vivo reflectance confocal microscopy before histological examination. RESULTS: In our preliminary study, confocal microscopy showed high grade of correspondence to histopathology. In particular, presence of sub-epidermal cleft and variable amount of oedema of the upper dermis associated with inflammatory cells infiltration were seen as prevalent confocal features in the bullous lesions considered. Differently, in urticarial lesions, no specific features could be appreciated at confocal analysis beside the presence of signs of spongiosis and perivascular inflammation. CONCLUSION: Confocal microscopy seems to be useful for in vivo, microscopical confirmation of the clinical suspect of bullous pemphigoid and for biopsy site selection in urticarial lesions to obtain a more significant specimen for histopathological examination.

Effective treatment of Kaposi's sarcoma by electrochemotherapy and intravenous bleomycin administration.

The present prospective study was aimed at evaluating the long-term efficacy of local electrochemotherapy (ECT) with the intravenous administration of bleomycin, on disease progression and viral activity in classic Kaposi's sarcoma (cKS), a vascular tumor related to human herpes virus-8 infection. Eighteen patients affected by isolate or multiple cutaneous lesions, refractory to conventional treatments, although in the absence of visceral involvement, were enrolled in a study. Follow-up visits were performed after 4 weeks and every 6 months for up to 48 months. A more extensive exploration of the immunologic status as well as of virological parameters was performed in nine patients. The results showed a significant clinical improvement in all patients after 4 weeks. A complete regression was observed in 12 patients after the first ECT, while four patients required a second treatment on the residual lesions after 4 weeks from the first intervention. The positive outcome persisted during the subsequent clinical control visits. Two patients, that showed rapidly evolving did not improve and relapsed despite a second round of ECT treatment. Effective treatment was associated with the reduction of viral load to undetectable levels. These data support the conduct of larger studies directed at validating the efficacy of ECT as a first-line therapy for cKS.

Unnecessary milk elimination diets in children with atopic dermatitis.

Milk elimination diets are frequently adopted in the treatment of atopic dermatitis, although the real prevalence of clinically relevant food allergy remains unclear and reports from different authors are often in disagreement. We investigated the percentage of children allergic to cow's milk compared with the rate of milk exclusion diets in a group of patients with atopic dermatitis. We enrolled 206 children (79 girls, 127 boys), mean age 45.8 (4-68) months, affected by atopic dermatitis into our study. All children underwent radioallergosorbent test for casein, alpha-lactalbumin and beta-lactoglobulin, prick test, atopy patch test, and oral provocation test. Children were followed up at 1, 3, 6, and 12 months. Of the 206 patients, 20 were excluded from statistical analysis, leaving 186. Forty-five (24.2%) were on a milk elimination diet and 141 on a normal diet. Four patients on the milk-free diet (8.9%), accounting for 2.2% of all patients, were found to be allergic. In the others, milk reintroduction did not cause the disease to worsen during the follow-up period. No children on a normal diet were found to be allergic. Our results demonstrated an actual prevalence of cow's milk allergy in patients on milk elimination diets (4%) to be significantly lower than the number of patients prescribed such diets (24.2%)-confirming that this measure is being applied excessively.

Myotonic dystrophy (Steinert disease): a morphologic and biochemical hair study.

BACKGROUND: Myotonic dystrophy is a systemic genetic disorder, with dominant transmittance. It is characterized by generalized progressive muscular abnormality. Although frontoparietal alopecia is one of the most common symptoms in myotonic dystrophy, it has not received much attention. METHODS: We examined 25 subjects from two families: 10 patients were affected by Steinert disease and 15 were not. The various morphologic and biochemical hair alterations are reported. RESULTS: All investigated subjects (affected or not) presented the same type of morphologic and biochemical hair alterations. CONCLUSIONS: These findings could be used to construct a hypothesis to explain the cause of the disease.

Pachyonychia congenita with steatocystoma multiplex. A report of two cases and a discussion of the classification.

Pachyonychia congenita is a rare syndrome in which the main and most common clinical sign is onychodystrophy of all finger and toe nails. The most frequent type of transmission seems to be autosomal dominant, but recessive forms have also been described. Typical onychodystrophy can be associated with other clinical manifestations. The most recent literature refers to descriptions of about 250 cases up until 1993. Numerous classifications of pachyonychia congenita have been suggested by several authors over the years. We report two cases of pachyonychia congenita in association with steatocystoma multiplex in a mother and son.

Neurofibromatosis type 1 associated with systemic vasculopathy.

Systemic vasculopathy in patients with neurofibromatosis type 1 is rare. We describe a case of unusual cerebral and renal involvement in a young, 29-year-old patient, who died of a cerebral ischemic attack one year after our observation.

Trichothiodystrophy: ultrastructural studies of two patients.

An 18-month-old and an 8-year-old girl had trichothiodystrophy (TTD). Microscopic observation of the hair under polarized light showed typical alternation of bright and dark bands; amino acid analysis of the hair demonstrated a marked reduction of cystine levels. Both patients had skin lesions consisting in the older child of diffuse follicular keratosis since birth, and in the younger of an ichthyosiform dermatitis on the lower legs that appeared at age 4 months. Ultrastructural studies of the skin showed striking similarities in both cases: perinuclear vacuoles with a unit membrane in the keratinocytes, and dispersed, irregularly arranged bundles of tonofilaments particularly at the desmosome junction. The origin of the vacuoles is unknown; the abnormalities of the tonofilaments could be explained on the basis of a generalized abnormality in sulfur-containing proteins, reflecting a disturbance in the synthesis of keratins. These electron microscopy findings could be considered as a peculiar feature of ichthyotic skin in patients with TTD.