Presence of nucleotide substitutions in the ABO promoter in individuals with phenotypes A3 and B3.

Recently, the involvement of mutation and deletion of transcription regulatory elements in the Bm , Am , A3 and B3 phenotypes has been reported. In the present study, we carried out genetic analysis of individuals with A3 and B3 using peptide nucleic acid-clamping PCR to exclude amplification of O alleles. Two single-point mutations, -76G>C and -68G>T, were found in the ABO promoter on the A-allele in three A3 individuals and on the B allele in a B3 individual, respectively. Transient transfection of luciferase reporter plasmids carrying the same mutations into K562 cells revealed decreased luciferase activity in comparison with that carrying the wild-type promoter. These observations suggest that the mutations downregulate the promoter activity, leading to reduction in A- or B-antigen expression on red blood cells in individuals with the A3 and B3 phenotypes.

Prominent hyperkeratotic plantar and palmar warts.

We report the case of a 28-year-old man who had prominent hyperkeratotic plantar and palmar warts, and flat warts on his face and chest. By DNA hybridization, human papillomavirus 1 and/or 2, and 3 DNA were detected from the tissues of these skin lesions. Results of laboratory investigations revealed leukopenia, eosinophilia, anti-HBs antigen and anti-hepatitis C virus antibody, and decrease in the OKT4/OKT8 ratio. He had no abnormality in cellular immunity. He was treated with multiple modalities, but was successfully treated with electrocautery to the plantar and palmar warts, and cryotherapy with liquid nitrogen to the flat warts. Nine years after the initial treatment, almost no recurrence was recognized.

Cutaneous amyloidosis in patients with progressive systemic sclerosis.

It is rarely reported that amyloidosis occurs as a complication of progressive systematic sclerosis (PSS), in comparison with rheumatoid arthritis (RA). We observed pigmentation on the upper back of six of sixty-six patients with PSS (9 percent), and recognized amyloid deposits in the skin on histochemical and electron microscopic examinations. These amyloid deposits were localized cutaneous type, according to results of morphologic and immunologic studies. Patients' levels of serum amyloid A were normal or moderately elevated. Two of the six patients had Barnett type I disease and four had Barnett type II; none had severe visceral involvement with PSS.

Electron microscopic examination of cutaneous lesions by the quick re-embedding method from paraffin-embedded blocks.

We attempted to evaluate whether Widéhn's quick re-embedding method from paraffin blocks is useful for dermatopathological diagnosis. Regarding fine preservation of nuclei, tono-fibrils and desmosomes of keratinocytes in normal skin, we could recognize no difference between the quick re-embedding method and traditional re-embedding methods. However, preservation of mitochondria and Birbeck granules in Langerhans cells was poor regardless of the method used. Furthermore, we studied the ultrastructural features of some viral skin diseases including molluscum contagiosum, herpes simplex, varicella-zoster and verruca vulgaris, and some skin tumors, including angioleiomyoma, angiosarcoma, Merkel cell carcinoma and amelanotic melanoma using the quick re-embedding method. We determined that all viral structures were sufficiently preserved by the quick method to observe the virions and development of the virus. Myofilaments and dense bodies of angioleiomyoma, Weibel-Palade bodies of angiosarcoma, neurosecretory granules of Merkel cell carcinoma and melanosomes of amelanotic melanoma were recognized by the quick method. From these results, we concluded that the quick re-embedding method is useful for the diagnosis of skin diseases, especially viral skin diseases and some skin tumors.