Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

Two unrelated infants with a new disorder characterized biochemically by elevated levels of free sialic acid in urine, serum, and cell lysates have exhibited severe mental and physical impairments since the early weeks of life. Three other biochemically diagnosed cases and two possible cases from the earlier literature are reviewed to delineate this condition. Clinical features including sparse, white hair, coarse facies, hepatosplenomegaly, profound inactivity, diarrhea, and anemia permit early diagnosis of this neurovisceral storage disease. Osseous stippling may be present and clear vacuoles may be demonstrated in lymphocytes and cultured fibroblasts. The course is one of relentless deterioration with death in early childhood. Specific diagnosis depends on demonstration of elevated free sialic acid in urine and cell lysates.

Laboratory diagnosis of Rocky Mountain spotted fever by immunofluorescent demonstration of Rickettsia in Cutaneous lesions.

Direct immunofluorescent staining for Rickettsia rickettsii was performed on cryostat sections of skin biopsies from 27 patients suspected of having Rocky Mountain spotted fever. In nine of the 17 patients whose final diagnosis was Rocky Mountain spotted fever, coccobacillary forms of R. rickettsii were identified in endothelium and vascular walls within the dermis. Facotrs recognized as contributing to false-negative results were prior treatment with tetracycline or chloramphenicol for 24--48 hours or longer and failure to obtain a section through the focus of vasculitis. No false-positive result was obtained in the ten patients whose final diagnoses were not Rocky Mountain spotted fever. The laboratory test offers an immediate, positive laboratory diagnosis for this treatable, life-threatening disease.

Human papillomavirus type 16 in bowenoid papulosis, intraoral papillomas, and squamous cell carcinoma of the tongue.

A 33-year-old immunosuppressed man developed bowenoid papulosis on his genitalia, velvety papules and plaques in his mouth, and invasive squamous cell carcinoma of his tongue. All three lesions were positive for human papillomavirus type 16 (HPV-16). The case provides further circumstantial evidence for a role of HPV-16 in epithelial neoplasia. The possible roles of a second HPV infection and of immunosuppression are also discussed.

Monsel's solution: a histologic nuisance.

Monsel's solution produces artifacts which can be troublesome if rebiopsy of a lesion is necessary. The tattoo produced can distort or obscure the basic pathologic process. It may lead an unwary pathologist into the false interpretation of the depth of a melanoma. Pathologists should recognize the artifact and we describe its characteristics. The use of Monsel's solution for hemostasis should be discouraged following biopsies of pigmented lesions or tumors which may prove to be diagnostic problems. The pathologist should be informed if Monsel's solution has been used.

Cutaneous myiasis.

Although cutaneous myiasis remains uncommon in North America, any traveler to the tropics may return with this ailment. A history of travel to a tropical country, a persistent pruritic lesion resembling a boil but having a dark central punctum with seropurulent or serosanguineous drainage, and complaints of a crawling sensation in the area of the lesion should lead the physician to consider myiasis. Treatment is directed at prompt removal of the fly maggot by incision and extraction.

Childhood malignant melanoma. Incidence and etiology.

Etiology of malignant melanoma in persons younger than 20 years of age was examined using data from two sources: medical records of 78 patients with this diagnosis at six hospitals, and information on 101 individuals included in 10 U.S. population-based SEER cancer registry areas between 1973-1976. Annual melanoma incidence rate was 3.4 per million in boys, 3.9 per million in girls, and 10-fold greater in white children than in black children. Melanoma was seven times more frequent in the second decade of life than the first. Skin was the primary site of melanoma in approximately 90% of the children in the two study series. The predominant cutaneous sites were head, neck, and trunk among boys, and arms and legs among girls. These variations by age, race, and sex suggest the etiologic role of cumulative skin exposure to sunlight, particularly in two patients with xeroderma pigmentosum. In 14 patients in the hospital series, melanoma was reported to develop within pigmented nevi that were present at birth.