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Biomedical subjects

F Crovato

Publications and source records attributed to F Crovato.

At least 37 records · Page 2Linked to original sources

Lyme disease in Italy.

We present the first cases of Lyme disease found in Italy. The diagnosis was based on clinical and laboratory data. The antigen used for indirect immunofluorescence (I.I.F.) was kindly supplied to us by Prof. R. Ackermann (Köln). Reciprocal titer was 64 in five patients, 128 in six, 256 in three and 512 in one. The patients came either from the Eastern Ligurian Coast or the Trieste Karst: these are consequently the first two Italian areas where Lyme disease has been recognized up to the present.

Adolescent↗

PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.

An autosomal recessive syndrome is described that associates extreme photosensitivity with a defect of the deoxyribonucleic acid (DNA) excision repair system, mild noncongenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, neurologic disorders, and short stature. A curious very sociable behavior, cataract and retinal dystrophy, recurrent infections, and unusual face are additional features. Fertility may be decreased. This syndrome is related to xeroderma pigmentosum complementation group D but differs from it in the absence of skin tumors, at least in the first two decades of life.

Abnormalities, Multiple↗

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

We studied the response to UV irradiation in cells from four patients, from three apparently unrelated families, affected by trichothiodystrophy (TTD). They showed all the symptoms of this rare autosomal recessive disorder (brittle hair with reduced sulfur content, mental and physical retardation, ichthyosis, peculiar face) together with photosensitivity. We found a decreased rate of duplicative DNA synthesis in stimulated lymphocytes, reduced survival in fibroblasts, and very low levels of unscheduled DNA synthesis (UDS) in Go lymphocytes and fibroblasts after UV irradiation. Complementation studies showed that normal values of UDS are restored in heterokaryons obtained by fusion of TTD cells with normal and xeroderma pigmentosum (XP)-complementation group A-cells. In contrast the defect is not complemented by fusion with XP-complementation group D-fibroblasts.

Cells, Cultured↗

Reticulate pigmented anomaly of the flexures associating reticulate acropigmentation: one single entity.

We describe a patient and her family in whom the clinical features of reticulate pigmented anomaly of the flexures, also known as Dowling-Degos disease, are associated with those of Kitamura's reticulate acropigmentation. This family is the second in which the concurrence of such rare genodermatoses is reported. It seems likely that Dowling-Degos disease, and Kitamura's reticulate acropigmentation are different clinical expressions of the same entity.

Adult↗

Familial multiple trichodiscomas.

Two sisters developed multiple pure trichodiscomas. The report confirms the familial occurrence of these tumors recently described and analyzes some of their histologic and ultrastructural features.

Female↗