Histidine decarboxylase deficiency in gene knockout mice elevates male sex steroid production.

Histamine is synthesized in cells by histidine decarboxylase (HDC). HDC-deficient knockout (KO) mice lack functional HDC and histamine in the tissues. In the present study we used this in vivo model for studying the role of HDC deficiency in the regulation of male steroid hormone metabolism. In agreement with earlier studies showing the lack of effects of central histamine on the basal secretion of gonadotrope hormones, we found no difference with in situ hybridization in the expression of GnRH in the hypothalamus of wild type and KO mice. The tissue concentrations of testosterone and several androgenic steroids were significantly elevated in the testes but not in the adrenal glands of HDC-KO mice. In contrast, serum estradiol levels failed to show a significant difference between the two groups. The weight of the testes was significantly smaller in both 7-day-old and adult KO mice. The ultrastructure of the adult testis indicated elevated steroid synthesis with more tightly coiled membranous whorls in Leydig cells. The present results suggest that changes in reproductive functions and sex steroid secretion in male HDC-KO mice are not due to altered hypothalamic GnRH expression but are probably related to definite modifications during fetal development of KO mice reinforced later by the lack of the effect of peripheral histamine. This may provide in vivo evidence that peripheral histamine is an important regulatory factor of male gonadal development during embryogenesis and of sex steroid metabolism later in adulthood.

Detection of retrovirus particles and reverse transcriptase activity in mid-term cultured peripheral blood and lymph node cells from a French woman with Sezary syndrome.

Retrovirus particles, with an ultrastructure of type C-virus similar to HTLV-I were observed in several mid-term cultures of leukemic cells derived from a woman with a well characterised Sezary syndrome who had always resided in France. Reverse transcriptase activity was detected in supernatant fluids from day 6 to day 40 of culture. However, negative anti HTLV-I serology and the absence of specific molecular hybridization between leukemic cell DNA and two HTLV-I derived probes, argue against a HTLV-I virus.

Congenital dyschromia with erythrocyte, platelet, and tryptophan metabolism abnormalities.

The case of a female child with a unique generalized congenital dyschromia is reported. She had hypopimented skin, with hypomelanosis and hypomelanocytosis, and many pigmented macules, which consisted of epidermal and dermal hypermelanosis without hypermelanocytosis. Biochemical investigations revealed normal catecholamine metabolism but abnormal tryptophan metabolism, including a decrease in blood serotonin and melatonin. A slight platelet storage pool disease was demonstrated, and a recurrent megaloblastic folate-related anemia occurred. The possible relationship between the pigmentary disease and the biochemical abnormalities is discussed. We suggest that this case represents a previously undescribed association of dyschromia, erythrocyte, platelet, and tryptophan metabolism abnormalities.

Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome).

Ichthyosis and neutral lipid storage disease (INLSD) is a nonlysosomal, multisystemic, triglyceride storage disorder. It is characterized by nonbullous congenital ichthyosiform erythroderma (NBCIE), leukocyte vacuoles, and variable involvement of the liver, muscles, eyes, and central nervous system. In our patient fat-containing vacuoles were also demonstrated in the epidermis. In patients with NBCIE, the diagnosis of INLSD is readily made by direct examination of a peripheral blood smear demonstrating cytoplasmic lipid vacuoles within most granulocytes and monocytes.

Generalized atrophic benign form of junctional epidermolysis bullosa.

There are at least six variants of junctional epidermolysis bullosa (JEB). About 20 cases of the generalized atrophic benign variant of JEB (GABEB) have been previously reported. We present an additional case of GABEB, occurring in a 14-year-old girl. Generalized cutaneous blisters occurred since birth and healed without severe scarring or milia, but with slight atrophy. In addition, mucous membrane involvement and hair, nail and tooth abnormalities were found. Electron microscopic examination showed a cleavage within the lamina lucida and the presence of numerically and structurally abnormal hemidesmosomes.

Captopril-induced lichen planus pemphigoides with pemphigus-like features. A case report.

We report a case of a bullous lichenoid eruption due to the intake of captopril. Clinical, histological, direct immunofluorescence and ultrastructural features were consistent with the diagnosis of lichen planus pemphigoides. In addition, the in vivo immunological study also revealed an intercellular fluorescence, similar to that seen in pemphigus. Complex drug-induced cutaneous reactions have been previously reported with other drugs, especially with D-penicillamine, which bears chemical similarities with captopril. However, such a drug-induced mixed pattern of lichen planus pemphigoides with pemphigus-like features has never been reported.

Cutaneous manifestations in chronic lymphocytic leukemia.

Cutaneous lesions arising during the course of chronic lymphocytic leukemia (CLL), generally of the B-cell type, are frequent. Three types of cutaneous manifestations must be differentiated: (1) specific lesions, (2) cutaneous manifestations closely related to the disease but without a leukemoid infiltrate and (3) associations with various dermatologic conditions. The various clinical features are discussed.