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Objective:To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness.Methods:Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites.Results:Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene, which was not detected in her parents or healthy controls.Conclusion:The heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.
RESUMEN
<p><b>OBJECTIVE</b>To investigate the epidemiological and clinical features of multiple primary malignant neoplasms (MPMNs).</p><p><b>METHODS</b>One hundred and twenty-five cases of more than or equal to three primary malignant neoplasms detected in the period of 1958 to 2001 were studied retrospectively in terms of frequency, age of onset, sex ratio, tumor location and the interval between sequential tumors.</p><p><b>RESULTS</b>The overall incidence of MPMNs was 0.090%; for three, four and five MPMNs was 0.078%, 0.009% and 0.001%. The mean age of onset of MPMNs was 64 years. The sex ratio, of male to female, was 1.0:1.2. The mean time interval was 7.1 years, and it reduced from 5.7 to 2.4 years in a descending order of the first, second, third, forth and fifth primary tumors. Three, four and five primary malignant neoplasms were predicated respectively in the large intestine, breast, lung, esophagus, uterus, skin; the large intestine, breast, skin stomach, urinary bladder, uterus; and the large intestine, breast, skin, parotid glands.</p><p><b>CONCLUSIONS</b>The overall incidence of multiple primary malignant neoplasms seems to ascend. The age of onset of MPMNs tends to be increase. The incidence of in women is higher than in men. The time interval from the first to fifth primary tumor is decreasing. The susceptible organs are identical organ, bigeminal organs or organs of the same system.</p>