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Biomedical subjects

E Ohtoshi

Publications and source records attributed to E Ohtoshi.

6 recordsLinked to original sources

Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum.

Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of pigmented and hypopigmented macules on the extremities and freckles on the face. However, if clinical features are not fully developed in infantile patients, it is difficult to differentiate DSH from xeroderma pigmentosum by clinical features alone. A 2-year-old boy (patient 1), revealed atypical features of DSH with slight susceptibility to sunburn. However, his grandfather (patient 4) who was 67 years old, revealed typical features of DSH, which helped to make an exact diagnosis in patient 1. For patient 2, a 5-year-old boy, and patient 3, a 3-year-old girl, it was more difficult to make a diagnosis because there were no family members with DSH features. DNA repair ability was tested for all four cases by means of unscheduled DNA synthesis and colony formation of skin fibroblasts after ultraviolet light irradiation, which resulted in an accurate diagnosis of DSH. We propose that these tests be performed to make a diagnosis of DSH in the case of poor or atypical clinical symptoms.

Aged↗

Cutaneous sarcoidosis with cardiac involvement.

Despite the clinical importance of cardiac involvement in the prognosis of sarcoidosis, it is often overlooked because of the subclinical disease progression and difficulty in diagnosis. We report here five patients with cutaneous sarcoidosis lesions where cardiac involvement was detected with the appearance of mild cardiac symptoms on a careful examination of the heart after cutaneous sarcoidosis was diagnosed. In four of the five cases, the patients had annular lesions while the fifth case showed a nodular eruption on the face. Three of the five patients showed complete AV block while one showed complete right bundle block and left bundle anterior branch block. All four patients with conduction disturbances underwent a permanent pacemaker implantation with prednisolone tapering therapy. The remaining patient had congestive heart failure and was treated with prednisolone alone. The present findings support the belief that sarcoidosis patients with cutaneous lesions, especially facial annular lesions, should be carefully examined and monitored for cardiac involvement, even in cases without apparent cardiac symptoms.

Aged↗

Foot ulcer due to arteriovenous malformation: report of a case.

A 41-year-old woman had erosive eruptions surrounded by irregularly shaped pigmentation on the lateral aspect of her right foot, where she had noted gradually increasing warmth and pain for 10 years. The eruptions waxed and waned without complete healing, and an ulcer which had formed one year previously did not respond to topical treatments. Arteriography performed on the right lower extremity disclosed multiple diffuse arteriovenous malformations in the right lower leg and foot. The ulcer was treated by bed rest, surgical debridement, and topical application of bucladesine sodium ointment. After three months, the ulcer healed, leaving a shallow scar and pigmentation.

Administration, Cutaneous↗

A case of autoimmune bullous dermatosis with features of pemphigus vulgaris and bullous pemphigoid.

Pleomorphic blisters, including tense bullae and annularly arranged vesicles around the erythema as well as erosive eruptions in the oral cavity, appeared on a 61-year-old woman 5 years after surgery for cholangiocellular carcinoma. A biopsy specimen from the oral cavity showed intraepidermal blisters, and those from skin lesions showed subepidermal blisters with infiltrates of eosinophils and neutrophils. The early-stage vesicles showed infiltrates along the epidermal-dermal junction, where electron microscopy disclosed disruption of the lamina densa, basal cells remaining on the dermis, and acantholytic keratinocytes among the infiltrates, but there was no cleavage of the epidermal-dermal junction at the lamina lucida. Direct immunofluorescence studies showed immune deposition at the intercellular space (ICS) and along the basement membrane zone (BMZ). Indirect immunofluorescence studies confirmed coexistence of IgG class anti-ICS and anti-BMZ antibodies. Although this case showed immunohistochemical features of bullous pemphigoid, the presence of suprabasal cleavage in the oral mucosa, acantholytic cells in the blister cavity, the deposition of IgG at the ICS of the perilesional epidermis, and circulating anti-ICS antibodies strongly suggested that this case was primarily pemphigus. The strong inflammation along the epidermal-dermal junction due to unknown factors may have modified the clinical appearance and the histopathology.

Autoantibodies↗