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Biomedical subjects

M L Battini

Publications and source records attributed to M L Battini.

18 recordsLinked to original sources

Oral carcinoma in a young man: a case of dyskeratosis congenita.

We report a 28-year-old male with a voluminous growth of the tongue, present for 6 months. The histological examination revealed a squamous cell carcinoma. The patient was also affected by oral leukoplakia, nail dystrophy, reticulated poikiloderma of the neck and hyperkeratosis of palms and soles. On the basis of clinical features and histological findings, as well as findings from the family, the diagnosis of dyskeratosis congenita (DKC) was made.

Adult↗

Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report.

We report on a 14-year-old boy who presented with a 4-year history of acral pains and febrile episodes. On physical examination, numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region. Renal function was within normal limits. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. Histopathological examination of one of the cutaneous papules showed several dilated blood vessels in the superficial dermis surrounded by collarettes of thickened rete ridges, consistent with a diagnosis of angiokeratoma. The electron-microscopic study of a skin specimen demonstrated the presence of dilated lysosomes with deposition of electron-dense bodies, some of which with laminated structure, in endothelial cells and fibroblasts. These findings were regarded as indicative of Fabry's disease. Subsequent biochemical analysis confirmed the presence of a alpha-galactosidase A deficiency in leukocytes. In conclusion, we described the clinical, histopathological and submicroscopic findings of a case of Fabry's disease, in which the combination of electron microscopic and biochemical approaches allowed the correct diagnosis.

Adolescent↗

[IgA anti-endomysium antibodies in dermatitis herpetiformis: a sensitive marker of gluten enteropathy].

The paper reports the results of a preliminary study using indirect immunofluorescent methods on serum samples from 20 patients affected by dermatitis herpetiformis in various phases of development and from 7 patients affected by celiac disease in order to document the presence of anti-endomysium IgA antibodies. Serum samples from 10 patients affected by bullous pemphigoid, 1 patients with linear IgA dermatitis and 10 patients with other bullous dermatosis were included as controls. Whereas the presence of these antibodies in varying titres, ranging from 1:10 to 1:80, was confirmed in all case of dermatitis herpetiformis, no antibody activity was observed in control patients. On the basis of these findings and of other published data, it is possible to conclude that these antibodies are directly correlated to intestinal damage, but there is no relationship with the clinical characteristics of skin symptoms or with junctional immunopathological evidence.

Celiac Disease↗

Plasminogen activators and antiplasmin activity in atopic dermatitis.

Cutaneous deposits of fibrinogen activity in lesional skin, plasmatic fibrinolytic activity, and antiplasmin activity (alpha 2 macroglobulin, alpha 1 antitrypsin and antithrombin III) were evaluated in a group of ten patients with atopic dermatitis and in a sex- and age-matched control group. Plasma fibrinolytic activity was increased in the acute phase of the disease (p less than 0.05). The levels of circulating antiplasmins appeared similar in the patients and the control group. Cutaneous fibrinolytic activity was increased in the acute phase of the disease in 5 of 5 cases, suggesting a role of the fibrinolytic system in the amplification of the inflammatory phenomenon in that phase of the disease. In the chronic lichenified phase, CFA was decreased in 3 of 5 cases leading to an excessive deposit of fibrin in the skin. This could be correlated with the abnormal vascular response (blanching phenomenon). On the basis of these data, the therapeutic use of the antifibrinolytic agents only seems rational in the acute phase of the disease.

Acute Disease↗

Heterogeneity in the phenotypic profile of cerebriform cells from a patient with Sézary syndrome.

This paper reports the results of a series of light and electron microscopic, cytochemical, immunologic and cytogenetic investigations performed in a patient with Sézary syndrome. Fifty-two percent of the cerebriform cells were OKIa-1 positive and 55% were acid alpha-naphthyl-acetate esterase (ANAE) negative. Since activated T-lymphocytes are known to lose their peculiar ANAE activity while acquiring Ia-like antigens, it is conceivable that the ANAE-negative and OKIa-1-positive cells represent an in vivo activated subset. Thus, it appears that a typical Sézary cell population from a given individual can exhibit heterogeneous phenotypic profiles.

Acid Phosphatase↗