Hereditary acrolabial telangiectasia. A report of familial blue lips, nails, and nipples.

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.

Immunolocalization of aromatase in human minor salivary glands of the lower lip with primary Sjögren's syndrome.

The enzyme aromatase is involved in the conversion of androgens to estrogens and in the modulation of various androgenic and estrogenic actions. Abnormalities of estrogen metabolism have been postulated to play roles in the development and/or pathophysiology of Sjögren's syndrome. In the present study, aromatase was immunolocalized in 75 cases of inflammatory disorders of human minor salivary glands of the lower lip. These included cases of primary Sjögren's syndrome (19 cases), of chronic sialadenitis (34 cases) and of mucous extravasation cysts (22 cases), in order to clarify the possible involvement of in situ estrogen production in primary Sjögren's syndrome. Aromatase immunoreactivity was detected in myoepithelial cells of acini and in interstitial cells adjacent to acini and ducts in 13/19 (68%) cases of primary Sjögren's syndrome. In contrast, aromatase expression was detected in only six of 34 (18%) cases of chronic sialadenitis and in seven of 22 (32%) cases of mucous extravasation cyst. These results suggest that increased aromatase expression in minor salivary glands with primary Sjögren's syndrome in premenopausal women may be involved in the biological features of primary Sjögren's syndrome through the production of estrogens in situ and possibly through the aggravation of the inflammatory reaction.