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Biomedical subjects

A M Zina

Publications and source records attributed to A M Zina.

At least 19 recordsLinked to original sources

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↗

[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↗

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↗

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↗

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↗

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↗

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↗

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↗

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↗

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↗

The ultrastructure of corified skin.

We studied the ultrastructure of human skin in a particular form of postmortem transformation: so-called "corification." Six- and 12-month-old corpses were examined. The epidermis showed a remarkable ultrastructural preservation of its components comparable to freshly fixed material. The dermis was less well preserved with altered bandage of collagen fibrils and amorphous precipitates in the ground substance. No explanation is found for such a phenomenon.

Humans↗

Pigmented hidroacanthoma simplex with porocarcinoma. Light and electron microscopic study of a case.

A case of pigmented hidroacanthoma simplex showing malignant transformation into porocarcinoma is reported. Although no intracellular duct formation could be observed as in benign tumors, ultrastructurally the tumor cells showed characteristics similar to those of eccrine poroma. Many melanocytes were seen dispersed within the tumoral nests. The melanocyte-keratinocyte relationship was found similar to that occurring in melanoacanthoma. Porocarcinoma cells showed ultrastructural features similar to those of benign cells.

Adenoma, Sweat Gland↗

Infantile acropustulosis.

A case of infantile acropustulosis is described. The condition responded to sulfones while it was not affected by any other therapy. Histologically, subcorneal pustules were found; persistent modest eosinophilia and eosinophils were present in the vesicular content, a feature never observed before. The significance of this finding is discussed.

Dapsone↗

Familial mandibuloacral dysplasia.

A family is described in which two sisters and their two female fifth-cousins were cases of mandibuloacral dysplasia. This syndrome is characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated terminal club-shaped phalanges associated with acroosteolysis and atrophy of the skin over hands and feet. Furthermore, in this family alopecia and loss of the lower teeth were noted. We stress the importance of the cutaneous alterations and the possible existence of partial froms of the disease as in one of the patients presented.

Adult↗

Bullous Sézary syndrome.

The clinical course of a patient with Sézary syndrome presenting under bullous form is described. The bullae were flaccid on a non-erythematous base. Indirect and direct immunofluorescence were both negative. In the peripheral blood WBC was high (54,000/mm3) and large cells with T lymphocyte properties and small cells with 'null' cell features were present. Blister fluid contained only large, E-rosette positive and alpha-naphthylacetate esterase-positive Sézary cells. A remarkable spontaneous cyclicity was observed: marked reduction in the number of large circulating Sézary cells each time bullae appeared. This suggests that only the large cells were capable of migrating to the skin and from the skin to peripheral blood.

Female↗