Hereditary hemorrhagic telangiectasia and its pathologic anatomy.
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We report four newborn infants with a distinctive evanescent cutaneous eruption that clinically and histologically resembled lupus erythematosus; two of the mothers had undifferentiated connective tissue disease. The tendency for lesions to occur in a periorbital location and the association of prominent telangiectasias were characteristic clinical signs in our patients. Immunoglobulin deposition at the basement membrane was demonstrated in one patient. Cytogenetic studies, done to exclude Bloom syndrome, revealed only nonspecific chromosomal abnormalities. A brief review of the literature, with speculations on the possible relationship of these changes to the occurrence of connective tissue disease in the mothers, is included in the discussion.
Over a period of one month three patients attending a women's outpatient clinic at a general hospital were observed to have unilateral telangiectatic lesions. To our knowledge, only 12 cases of unilateral nevoid telangiectasia have been previously reported; this report would bring to 15 the number of cases of this syndrome. The temportal aspect of the onset of the lesions among these patients strongly supports the role of estrogen in the appearance of unilateral nevoid telangiectasia.
We describe a mother and two daughters who had the following clinical manifestations: bluish discoloration of the vermillion ridge of the lips, nipple areolae, and nail beds; discrete telangiectasia of the chest, elbows, and dorsa of the hands; varicosities of the lower part of the legs; and (in the two daughters) migraine headaches. Routine histologic examination of tissue from the lips and elbows disclosed extensive, dilated, horizontal subpapillary telangiectases. Enzyme histochemical stains demonstrated activity of adenosine triphosphatase and leucine aminopeptidase around these dilated vessels. Alkaline phosphatase activity was strikingly absent from the dilated subpapillary vessels. By electron microscopy, these vessels were demonstrated to be postcapillary venules. We propose an autosomal dominant mode of inheritance.
Three Japanese brothers had the rosacea-like facies and multiple intraepidermal epitheliomas that characterize Haber's syndrome. They also had xerosis of the lower extremities. The facial lesions were dry, warm, erythematous, and indurated, with enlarged follicular orifices and telangiectasia. One patient had disturbing "burning" of the face, which was relieved by short courses of steroid therapy that were given for systemic effects.
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A 0.25-mL quantity of 0.25%, 0.5%, and 1.0% polidocanol (Aethoxysclerol [France]), 0.5% sodium tetradecyl sulfate (Sotradecol injection), and 23.4% hypertonic saline was injected into the dorsal marginal rabbit ear vein; clinical and histologic thrombosis resulted that lasted between four and eight days. The lowest concentration of polidocanol (0.25%) demonstrated immediate thrombosis; however, no clinical or histologic changes occurred eight days after injection. With all other agents, histologic fibrosis of the vessel correlating with clinical disappearance occurred after eight days. However, 0.5% polidocanol and sodium tetradecyl sulfate developed recanalization through the initially sclerosed vessel between eight and 14 days, with clinical reappearance of the 0.5% polidocanol-injected vessel at 30 days, after injection. Cutaneous necrosis was noted clinically and histologically in three of ten vessels injected with 1.0% polidocanol and in two of ten vessels injected with hypertonic saline. Clinical and histologic evidence of necrosis occurred with and without extravasation of the sclerosants.
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