CASE REPORTThe patient, a 33-year-old Caucasian male, initially presented at another hospital complaining of a mass in the anterior left leg which had been present for several years. There was no history of varicosities, pain, erythema, or antecedent trauma. The mass was opened, thought to be a hematoma, and evacuated without surgical pathological consultation. Over the next eight months the mass recurred and gradually increased in size.With the second presentation, physical examina- tion revealed a soft, nontender, pretibial mass of the left leg fixed to the tibia1 fascia approximately 10 cm below the knee. An incisional biopsy was performed, the diagnosis deferred, and outside consultation obtained. The patient was readmitted after several weeks for complete excision .of the mass. The physical examination was essentially unchanged. X-rays of the left leg including venography and arteriography were normal. A soft 4 x 5 cm mass was excised with adherent periosteum. MATERIALS AND METHODSTissues obtained from the incisional biopsy and the later excision were routinely examined and fixed in 10% neutral buffered formalin. Blocks were prepared for histopathology, and slides were stained with hematoxylin and eosin. Selected blocks were further examined with Wilder's reticulin stain, Verhoeff-van Gieson, aldehyde fuchsin alcian blue, Masson trichrome, phosphotungstic acid-hematoxylin (modified from Mallory), the Fraser-Lendrum stain, and Gomori's iron stain.Other tissue was minced and fixed in 5 % buffered glutaraldehyde. After a buffer rinse the tissue was osmicated, dehydrated, and embedded in plastic. Thick sections were cut on a Sorvall MT-1 Porter Blum microtome and stained with toluidine blue. Ultra-thin sections were cut with a diamond knife on a Sorvall MT-2 ultramicrotome, mounted on copper grids, and stained with lead citrate and uranyl acetate. These grids were examined with an Hitachi-12 electron microscope.

Microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurred in a mother and daughter when each was in her third decade. The mother had prominent neurological findings, fever, and expired from renal insufficiency. Her daughter’s only major symptom was renal insufficiency. The similarity of the mother’s illness to thrombotic thrombocytopenic purpura and of the daughter’s to adult hemolytic uremic syndrome suggests that these diseases are variants of a single clinical disorder, while their occurrence in direct descendents strengthens the postulate that in selected instances a genetic predisposition to these disorders may be important.

No abstract

No abstract

No abstract