Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

The molecular defect of uroporphyrinogen decarboxylase (UROD) was examined in a patient with mild hepatoerythropoietic porphyria. To elucidate the UROD defect, we cloned UROD cDNAs from EBV-transformed lymphoblastoid cells of the proband using reverse transcriptase-polymerase chain reaction. Nucleotide sequence analysis of the cloned UROD cDNAs revealed two separate missense mutations, each occurring in a separate allele.

Skin care in the space environment.

Envisioned in the 21st century is the United States Space Program's establishment of a permanent human presence in a space station and a moon colony. Mid-21st century humans will take part in an exploratory trip to Mars from the moon (Collins, 1988; Ride, 1987). Fundamental to achieving these space goals will be human health care management.

Space dermatology: a specialty in evolution.

The last thirty years have demonstrated the ability of humans to survive both brief and prolonged durations of microgravity in the unique environment of space. The maintenance of health and well-being during spaceflight has been the focus of physicians and health care personnel involved in space medicine. It follows that dermatology will become a defined component of space medicine, as skin-related physiology and subsequent disorders are elucidated and as health maintenance protocols are developed.

Manifesto of space medicine: the next dermatologic frontier.

As the fields of astronomy, cosmology, and space travel move rapidly forward, so must space medicine. The manned space program and medical knowledge and support have developed in tandem. Dermatology will play a fundamental role in survival during space flight.

Eruptive vellus hair cysts.

Eruptive vellus hair cysts are an apparent developmental anomaly of vellus hair follicles that result in an asymptomatic papular eruption characteristically located on the anterior chest in young patients. A case of eruptive vellus hair cysts in reported, and the clinical and histologic findings are reviewed.

Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

Hepatoerythropoietic porphyria (HEP) is due to a marked deficiency of uroporphyrinogen (URO) decarboxylase, a cytosolic enzyme in the heme biosynthetic pathway. Using a radioimmunoassay method, we determined the concentration of URO decarboxylase protein in erythrocytes from a patient with mild HEP and found that the enzyme protein concentration had markedly decreased to less than 7% of the normal controls. This finding, however, was in contrast to the enzyme activity in the patient's erythrocytes, which was 16% of normal control levels and different from previously reported HEP cases in that erythrocytes in our patient contained disproportionately elevated URO decarboxylase activity in comparison to its immunoreactive material.

Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage.

Hepatoerythropoietic porphyria is caused by a marked deficiency in the activity of uroporphyrinogen decarboxylase, an enzyme that is essential for heme biosynthesis. It has been hypothesized that uroporphyrinogen decarboxylase deficiency is inherited as a homozygous defect in the disease. This suggestion has been supported by reports of a deficiency of the enzyme in parents of patients with the disorder.

Enhancement of granulopoiesis by lithium carbonate in a patient with hairy cell leukemia.

A 73-year-old patient with hairy cell leukemia and profound granulocytopenia both before and after splenectomy was treated with lithium carbonate. With serum lithium level maintained in the therapeutic range, granulocyte count steadily increased from a level below 200/mm3 to 800/mm3 over a two-week period. This trend reversed upon withdrawal of lithium.

Phototoxicity from systemic agents.

Phototoxicity caused by systemic agents has been well described in the literature for only a handful of medications. Diagnosis rests initially upon the clinical recognition of a photodistributed eruption. Thereafter, histopathology and light testing with the patient on and off of the suspected medication should confirm the clinical suspicion.

Granulocytic sarcoma of the anterior mediastinum.

Granulocytic sarcoma, or chloroma, rarely occurs in the anterior mediastinum. When it does, the clinical picture may resemble lymphoma. We report two patients in whom evaluation for mediastinal mass revealed the diagnosis of granulocytic sarcoma.

Pathogenesis of cutaneous T-cell lymphoma.

Cutaneous T-cell lymphoma is a malignant disease whose behavior reflects its T-cell lineage. The biologic characteristics of the disease are understandable when viewed from a perspective of normal T-cell-skin interactions. Thus, it is of no surprise that this malignancy of helper T lymphocytes usually demonstrates a remarkable affinity for the skin at the outset and that, coincident with decreased dependence upon this unique environment, the extent and aggressiveness of disease increases.

Pulling boat hands: a unique dermatosis from coastal New England.

We report a previously unrecognized hand dermatosis, pulling boat hands (PBH), occurring in thirteen participants at the Outward Bound School on Hurricane Island, Maine. Painful and pruritic macules, plaques, and vesicles developed exclusively while subjects lived aboard a pulling boat, the school's open rowing/sailing craft. Nine of those affected were women and eight had Raynaud's phenomenon or vasospasm.

Splenic torsion. An unusual cause of splenomegaly.

A 28-year-old woman who presented with acute abdominal pain and splenomegaly was found to have little functioning splenic tissue on liver-spleen scan but a large homogeneous spleen by computerized axial tomography. Laparotomy revealed torsion of the splenic pedicle and extensive splenic infarction. The presentation, pathophysiology, and diagnostic difficulties of this case are discussed.