11/34. Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase.The development of Cushing's disease among patients with deficiency of 21-hydroxylase has not been observed to date. The clinical manifestations and the hormonal profile of this exceptional association are herein described through the study of two cases. The first one was a 39-yr-old woman who had undergone non-curative transsphenoidal surgery for a pituitary-dependent Cushing's syndrome 12 yr before. She showed hypertension, central obesity, severe hirsutism, alopecia and hyperpigmentation. Urinary excretion of cortisol was normal, but ACTH levels were very high and hormonal dynamic studies (cortisol circadian rhythm, insulin-induced hypoglycemia and dexamethasone suppression tests) revealed the qualitative disturbances that characterize Cushing's disease. serum concentrations of androstenedione, free testosterone and 17-hydroxyprogesterone were clearly increased. Reexamination of the tissue samples from previous surgery confirmed the presence of an ACTH-producing pituitary adenoma. CYP21 gene analysis found the splicing 655G mutation at intron 2 and the V281L mutation at exon 7. The second case was a 21-yr-old woman who was diagnosed with pituitary ACTH-dependent Cushing's syndrome according to unequivocal clinical and laboratory findings. However, hirsutism was particularly severe and both serum androgens and 17-hydroxyprogesterone were elevated. The patient was heterozygote for a large conversion of CYP21 gene. In these cases, the clinical and biochemical expression of Cushing's syndrome was determined by the different severity of 21-hydroxylase deficiency and the subsequent residual ability of adrenal cortex to synthesize cortisol.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
12/34. Cardio-facio-cutaneous syndrome: two cases in the same generation.A 4-year-old Japanese boy, the youngest of three brothers, presented with ichthyosiform hyperkeratosis over his whole body, eczematous erythema with partial desquamation and erosion on the flexor side of the joints of extremities, the fossa axillaries, and the genital and buttock regions, and total hair loss on the scalp and the absence of eyebrows and eyelashes. In addition to the ichthyotic eruptions and hair abnormalities, he also had a ventricular septal defect, mental retardation, growth retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and ocular hypertelorism; therefore, he was diagnosed with cardio-facio-cutaneous (CFC) syndrome. The patient's family did not have a history of consanguineous marriage. The parents and the eldest son were healthy. However, the second son, also born with ichthyosiform hyperkeratosis over his whole body, total hair loss on the scalp, myocardial deficiency, mental retardation, growth retardation, and characteristic facial features, had died of pneumonia and sepsis at the age of 1.5 years. Because the middle brother had the same disease, the present case is considered to be a rare case of CFC syndrome with in a single generation.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
13/34. Omenn syndrome: therapeutic effects of cyclosporin.Omenn syndrome is a severe combined immunodeficiency with features of generalised erythroderma alopecia and evidence of Th2 inflammation (eosinophilia and raised IgE). We describe a differential effect of 2 calcineurin inhibitors, cyclosporine A (CsA) and tacrolimus, with CsA rapidly improving the erythroderma and lymphocytosis but tacrolimus having little effect.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
14/34. Omenn's syndrome and related combined immunodeficiency syndromes: diagnostic considerations in infants with persistent erythroderma and failure to thrive.A 4-month-old male infant had a 2-month history of an exfoliative erythroderma and alopecia. Recurrent mucosal infections, diffuse lymphadenopathy, hepatosplenomegaly, lymphocytosis and eosinophilia, anemia, and failure to thrive later developed. Investigation revealed a combined immunodeficiency with T cells of an unusual phenotype in his peripheral blood, skin, and lymph nodes. Our patient's clinical manifestations most closely resemble Omenn's syndrome, a rare form of autosomal recessive combined immunodeficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
15/34. alopecia totalis and vitiligo in common variable immunodeficiency.Three cases of severe and irreversible alopecia occurring in patients with common variable immunodeficiency are described. In all three cases, hair loss developed after the diagnosis of immune deficiency; one of the patients also had extensive vitiligo. A fourth patient had vitiligo in the absence of alopecia. No change in the alopecia or vitiligo was noted in any patient as a result of immunoglobulin replacement therapy.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
16/34. GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.GAPO syndrome was described in 12 patients from 7 families. Constant manifestations include dwarfism, alopecia, pseudoanodontia, and a peculiar, "geriatric" facial appearance. We describe the autopsy findings and all available clinical data on one deceased patient and his living affected sister, previously reported as short abstracts (Epps et al.: Cienc Cult 29(Suppl):740, 1977; Wajntal et al.: Cienc Cult 34(Suppl):705, 1982). Both had the characteristic anomalies of this syndrome but optic atrophy was absent; instead, they had glaucoma and keratoconus; hypogonadism was present in both patients. biopsy and autopsy findings show that the GAPO syndrome is a dyshistogenetic sequence due to accumulation of extracellular material and thus should be called GAPO dysplasia. We suggest that the basic defect in this autosomal recessive disorder is possibly related to a lack of breakdown of the extracellular components, perhaps due to an enzyme deficiency involved in the metabolism of extracellular matrix.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
17/34. Partial biotinidase deficiency associated with Coffin-Siris syndrome.Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.- - - - - - - - - - ranking = 545.98065232507keywords = biotinidase deficiency, biotinidase, deficiency (Clic here for more details about this article) |
18/34. Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome.A patient has been studied in whom an atypical ichthyosiform erythroderma was associated with congenital neurosensory deafness, vascularization of the corneas progressing to blindness, alopecia totalis, abnormalities of the teeth and nails, and postnatal growth deficiency. Twelve other patients with a similar pattern of malformation have been reported previously. This syndrome appears to represent a distinct disorder with a pattern of inheritance which is most likely autosomal recessive.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
19/34. Deaths occurring during clinical studies of topical minoxidil.Eight deaths that occurred during Upjohn-sponsored clinical trials of topical minoxidil and two deaths in subjects who used extemporaneous formulations of the drug are summarized. Of the eight patients in clinical trials, five had cardiovascular abnormalities and two had acquired immunodeficiency syndrome-related pneumonia. One patient died of a self-inflicted gunshot wound. One of the subjects who was using extemporaneous topical minoxidil had hypertension and arteriosclerotic disease and the other died of a myocardial infarction. There is little likelihood of significant adverse effects attributable to topical minoxidil because of its low systemic absorption. The evidence suggests that these deaths were the result of causes other than use of the drug.- - - - - - - - - - ranking = 0.16666666666667keywords = deficiency (Clic here for more details about this article) |
20/34. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.There are two distinct forms of multiple carboxylase deficiency. A neonatal onset form is due to deficiency of holocarboxylase-synthetase. A later onset form in which neurological abnormalities are seen as well as those of the skin and hair is due to biotinidase deficiency. It is the purpose of this report to describe a patient with biotinidase deficiency who presents bilateral optic atrophy. The dosage of biotinidase enzyme in the patient's serum and in other members of his family confirms the autosomal recessive transmission of this condition.- - - - - - - - - - ranking = 693.55930326001keywords = biotinidase deficiency, biotinidase, carboxylase, deficiency (Clic here for more details about this article) |
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