1986 Volume 48 Issue 4 Pages 678-682
Manifestations of Bourneville-Pringle phakomatosis (B.-P. Ph.) are determined by dissemination of mesenchymal phakomatoblasts in the early embryonic stage and differ extremely among individual cases. The chief complaint of a 61-year-old man was bleeding from a verrucous lesion on his cheek. The epidermal area of the lesion was seborrheic keratosis-like, the superfical half of the dermis was composed of “angiofibromatous” tissue lacking elastic fiber. In another facial lesion, “solar degeneration” was evident in the dermal tissue, without elastic fiber. These observations may support an explanation of the cause of the solar elastosis, i. e. not degeneration of pre-existing elastic fibers but rather altered function of fibroblasts (Lever & Schaumberg-Lever, 6th. Ed., 1983). The patient was diagnosed as a case of B.-P. Ph. by clinical and microscopic findings of the lesions. The diagnosis was supported by calcified sub-ependymal nodules seen on the brain CT and positive fluorescence funduscopy. No abnormality was found in pyelograms and chest X-ray. On consideration of the present case and ones hitherto reported, attention should be drawn to the following items:
(1) Five (including the present) cases living over 60 years have been reported in Japan. Their mental deficiency was slight, occurred in the latest stage of their life or was lacking. All but one were males.
(2) Cases of B.-P. Ph. without mental retardation are common.
(3) Efficacious means for diagnosing B.-P. Ph are clinical and histological examination of skin lesions, along with funduscopy, brain CT, pyelography and chest X-ray.
(4) Lesions may bleed, and serious sequelae may follow this bleeding.
