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.
D000328:Adult; D000469:Alkaline Phosphatase / Q000378:metabolism; D001940:Breast / Q000473:pathology; D001941:Breast Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007931:Leucyl Aminopeptidase / Q000378:metabolism; D008047:Lip Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009260:Nail Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009558:Nipples / Q000201:enzymology / Q000473:pathology; D013577:Syndrome; D013684:Telangiectasis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
D000469:Alkaline Phosphatase; D007931:Leucyl Aminopeptidase