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Biomedical subjects

S Bundino

Publications and source records attributed to S Bundino.

At least 19 recordsLinked to original sources
PubMed1995

[Echographic diagnosis of a large, asymptomatic, perirenal hematoma caused by a bleeding angiomyolipoma in tuberous sclerosis].

The authors describe a case of 21-year-old man suffering from tuberous sclerosis, more than once operated for subependymal astrocytomas, presenting multiple bilateral renal angiomyolipomas of 1.5 cm as greatest diameter. Last abdominal ultrasonographic exam, done a few years after the former, revealed an angiomyolipoma measuring 10 cm in diameter at the upper pole of the right kidney. This angiomyolipoma projected into a large haematoma of 15 cm in diameter, absolutely asymptomatic. After CT control bone lesions were removed. This case shows the progressive increase in number and size of renal angiomyolipomas, with subsequent haemorrhagic complications, suggesting as opportune periodic ultrasonographic controls.

Adult↗
PubMed1993

Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.

A 20-year-old patient was born with epidermolysis bullosa and a severe, slowly progressive muscle disease. Skin biopsy demonstrated junctional epidermolysis bullosa. Muscle biopsy demonstrated degenerative changes with increase in connective tissue, fibre size variability, rods and cytoplasmic bodies, central nuclei. In muscle biopsy dystrophin, chondroitin unsulphate, chondroitin 4-sulphate, chondroitin 6-sulphate, heparan sulphate, collagen III, collagen IV and VI, laminin, and fibronectin were normally distributed. This is the first report of the association of a form of congenital muscular dystrophy with junctional epidermolysis bullosa and, together with the previous reports of muscle involvement in epidermolysis bullosa simplex and dystrophica, it suggests the existence of a syndrome characterized by the contemporaneous presence of skin and muscle involvement.

Adult↗
PubMed1992

Immunoglobulin and HLA-DP genes contribute to the susceptibility to juvenile dermatitis herpetiformis.

HLA-DQ genes and gluten diet are the main factors involved in the pathogenesis of Dermatitis Herpetiformis (DH), as well as Coeliac Disease (CD). However other genetic factors are probably relevant, since about 10% of the patients with DH and CD lack the DQA1*0501/B1*0201 heterodimer while the majority of individuals presenting this genotype and also being exposed to gluten diets did not suffer from these diseases. To evaluate the role of other genes, 36 Northern Italian children with DH were analysed for DNA polymorphisms at HLA-DP and immunoglobulin (Ig) heavy chain loci. DPA1*0201 and DPB1*1301 frequencies were higher in patients than in controls (Pc = 0.0357 and Pc = 0.0273). With respect to immunoglobulin heavy chain restriction fragment length polymorphisms (RFLP), the 4.6 kb SacI RFLP at the switch alpha 2 gene was more frequent in patients (0.13) than in controls (0.019; Pc = 0.036). Moreover, rare alleles or duplications in the switch regions occurred more frequently in the patients than in the controls. These results support the hypothesis of a multifactorial inheritance of DH, the HLA and Ig constant heavy chain genes being some of the loci contributing to the susceptibility. In accordance with previous CD studies, these data also confirm that DP subregion is probably involved in the pathogenesis of DH.

Adolescent↗
PubMed1990

[Ulcerative herpes simplex as the first manifestation of AIDS].

We present the case of an ulcerative lesion of the nasal mucous membrane and of the cutis surrounding the nose, starting six months ago, in a 26 year-old woman. From the histological picture a necrotic Herpes-virus infection was diagnosed. This suggested the existence of a deficiency of cell-mediated immunity. In fact a selective quantitative defect in the helper/inducer subset of T lymphocytes, as observed in AIDS, was noticed. HIV infection was confirmed by the ELISA test and the Western Blot test. Viral cultures grew HSV I from the skin lesion, which rapidly recovered after treatment with Acyclovir. We emphasize the absence of other signs and symptoms that could make us suspect an HIV infection and the rarity in the literature of the occurrence of HSV infections in that particular location as an initial manifestation of AIDS.

Acquired Immunodeficiency Syndrome↗
PubMed1988

Papular xanthoma. Clinical, histological and ultrastructural study.

The 5th case of papular xanthoma is reported. This entity can be differentiated on the basis of clinical and histological features: normolipidemic, nonconfluent, eruptive xanthomas located on the face, trunk and mucous membranes with no internal involvement. Histologically there are foamy cells and Touton giant cells without an inflammatory or histiocytic component. Electron microscopy shows macrophages packed with free lipidic vacuoles and lacking specific markers.

Humans↗
PubMed1987

Hepatoerythropoietic porphyria.

A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis. Biochemically elevated levels of protoporphyrins in erythrocytes, uroporphyrins in urine, and coproporphyrins in feces are markers of this form of porphyria. A family study confirmed that he was homozygous for a defect of uroporphyrinogen decarboxylase. A trial with hydroxychloroquine produced no improvement.

Child↗
PubMed1987

Dermatitis in a rubber tyre factory.

An outbreak of occupational dermatitis in a rubber tyre factory is reported. An unusual clinical picture was recognized. Patch tests revealed a high sensitization rate to the MBT derivative used: 2-(2'-4'dinitrophenylthio)benzothiazole. Since tests with MBT mix and dinitrophenol were negative; sensitization to a contaminant was suspected. DNCB was traced as the substance responsible.

Dermatitis, Atopic↗
PubMed1987

Sea-blue histiocyte syndrome with cutaneous involvement. Case report with ultrastructural findings.

A patient with infiltration of the skin resulting in eyelid swelling and facial nodules was recognized as a case of sea-blue histiocyte syndrome with cutaneous involvement. Typical sea-blue histiocytes were found in the skin and confirmation was provided by electron microscopy. Hepatosplenomegaly, lung infiltrates and bone marrow involvement were the other symptoms. The relationship between sea-blue histiocyte syndrome and adult Niemann-Pick disease is also discussed.

Adult↗
PubMed1986

Recurrent digital fibromatosis of childhood. An ultrastructural and immunohistochemical study of two cases.

Two cases of recurrent digital fibromatosis of childhood were studied by electron microscopy and immunohistochemistry, using rabbit anti-actin antisera. The tumor cells were typical myofibroblasts, containing inclusion bodies and bundles of microfilaments. Immunohistochemistry showed the presence of actin in these cells, thus proving the myofibroblastic nature of the tumors. Inclusions were negative or showed a weak annular positivity. A possible explanation of these findings is discussed.

Actins↗
PubMed1985

Gross pathology and scanning electron microscopy of pilomatricoma.

We have examined gross specimens of pilomatricomas, divided in half after surgical excision and have found a peculiar gross appearance that has enabled us to arrive at a correct diagnosis. The macroscopic structure of the tumor appears to conform to the scanning electron microscopic picture.

Humans↗
PubMed1985

Acrosyringial epidermolytic papulosis neviformis.

A 42-year-old woman showed multiple verrucous papules on her right ring finger. Histology revealed a hyperkeratotic plug and epidermal foci of epidermolytic hyperkeratosis exclusively involving the intraepidermal sweat duct units. We propose the term acrosyringial epidermolytic papulosis neviformis or epidermolytic sweat duct nevus to define this unique entity.

Adult↗
PubMed1984

Pyoderma gangrenosum associated with selective hereditary IgA deficiency.

A case of pyoderma gangrenosum is described in a girl aged 4. The condition was associated with selective IgA deficiency. The father and the 2 brothers suffered from the same deficiency (autosomal dominant transmission). Treatment with prednisolone and clofazimine produced an excellent clinical response.

Child, Preschool↗