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Biomedical subjects

J L Diaz-Perez

Publications and source records attributed to J L Diaz-Perez.

At least 19 recordsLinked to original sources
PubMed1995

Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome.

OBJECTIVE: The aim of this study was the endocrinological, enzymatic, and genetic evaluation of a family with a complex syndrome associating hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis and renal malformation. DESIGN: Hypothalamic-pituitary-testicular function, olfaction, steroid sulphatase activity, and morphological renal studies were assessed. DNA molecular analyses were carried out in all the patients. PATIENTS: Two brothers and their maternal uncle showed the clinical picture of congenital ichthyosis, hypogonadism, hyposmia and unilateral renal maldevelopment. MEASUREMENTS: LH and FSH were determined by RIA basally and after GnRH stimulation, and the test repeated after a period of GnRH priming. Testosterone response to hCG was measured. Arylsulphatase C assay was performed as a measure of steroid sulphatase activity. DNA amplification analysis and Southern blot analysis of four Xp22.3 loci were performed. RESULTS: Low levels of gonadotophins, basally and after acute GnRH, increased clearly after GnRH priming. Low testosterone levels increased promptly after hCG. Subnormal levels of arylsulphatase C were detected. Hyposmia and renal hypoplasia or aplasia were demonstrated. A large Xp 22.3 deletion including the genes responsible for X-linked ichthyosis (steroid sulphatase deficiency) and Kallmann syndrome was demonstrated. CONCLUSIONS: The absence of the gene encoding steroid sulphatase accounts for the X-linked ichthyosis in these patients, whereas the absence of the Kallmann syndrome gene accounts for hypogonadism, anosmia and for the single kidney found in two of the three patients.

Adolescent↗
PubMed1993

Phenofibrate-induced lichenoid photodermatitis.

Phenofibrate is an hypolipemiant drug derived from fibric acid. Cutaneous side effects such as pruritus, rash, urticarial lesions and some rare cases of photosensitivity have been described (1-3). The reported photosensitivity cases are clinically described as eczematous (1-3); some have been reproduced by photopatch-testing (2, 3). We studied a patient with a clinical and histopathological lichenoid eruption over light-exposed areas clearly related to phenofibrate therapy for an essential hypercholesterolemia.

Dermatitis, Photoallergic↗
PubMed1988

[Familial eosinophilic fascitis induced by toxic oil].

Three of four family members in husband, wife and one of two daughters developed in a short time interval (eleven months) eosinophilic fasciitis. The clinical, analytical and histopathological changes were characteristic of this disease. Familial cases of eosinophilic fasciitis have not been previously published. The process of these patients was probably caused by the ingestion of denatured oil (toxic oil syndrome), although the clinical picture begun two and a half years after the epidemic phase of the toxic oil syndrome declined.

Adult↗
PubMed1988

[Bowenoid papulosis in a patient with AIDS].

A patient with a acquired immunodeficiency syndrome (AIDS) and Kaposi's angiosarcoma developed bowenoid papulosis of the genitalia (BP). The clinical and histopathological criteria were both characteristic of BP. With vinblastine treatment a moderate improvement of Kaposi's lesions was observed, but no significant changes of the BP lesions were noted during this treatment.

Acquired Immunodeficiency Syndrome↗
PubMed1984

Pre-Sézary syndrome.

Eighteen patients with erythroderma, recurrent cycles of circulating Sézary cells of less than 1,000 cells/mm3, and a chronic course were followed for a mean time of nearly 5 years and were diagnosed as having pre-Sézary syndrome. Only one patient died, and none developed lymphoproliferative disease. All ten patients who underwent patch testing showed positive results. The elevation of IgE was striking when this group was compared with a group with Sézary syndrome. Most patients achieved partial or complete remission on low-dose chlorambucil and prednisone therapy. Some patients had lymphocytic or lymphomatoid bands on skin biopsy specimens and were like previously reported patients with pre-Sézary syndrome whose condition progressed to Sézary syndrome. A nontoxic chemotherapy or an anti-T cell treatment program can control this chronic erythroderma state.

Adult↗
PubMed1984

The treatment of Sézary syndrome.

The results of treatment programs were studied in forty patients with Sézary syndrome. Thirty-three patients died. The principal treatment was a low-dose chlorambucil and prednisone regimen. Patients so treated lived longer from diagnosis of erythroderma (median survival, 6.2 yr) than did patients on other regimens (median survival, 3.05 yr). The addition of x-ray or chemotherapeutic programs did not increase significant long-term benefit. Seven patients receiving chlorambucil and prednisone had remission (1 yr or more); most patients had partial remission, but two patients did not have a response to this program. The complications of sepsis, progressive disease, and lymphoma occurred both in patients who were and in those who were not treated with chlorambucil and prednisone. We believe that a regimen of low-dose chlorambucil and prednisone is satisfactory treatment that can be the basis for comparison of new therapeutic approaches to Sézary syndrome.

Adult↗
PubMed1980

Cutaneous periarteritis nodosa: immunofluorescence studies.

The study of ten cases of cutaneous periarteritis nodosa by direct immunofluorescence microscopy of excision biopsy specimens revealed positive findings in nine. Deposition of IgM was found in the vessel walls in six cases, and C3 was observed in four; however, only in two cases was C3 found with IgM in the vessel walls. Deposits of IgM in the superficial vessels were found in five cases, although only the deep muscular vessels showed evidence of the vasculitis in cutaneous periarteritis nodosa. Serum hepatitis B antigen was absent in the nine cases that were tested. Positive immunofluorescence findings in superficial as well as in deep vessels suggest that although periarteritis nodosa is characterized by an inflammatory panarteritis, occasional vasculitis of small vessels might be expected.

Complement C3↗
PubMed1980

Disabling pansclerotic morphea of children.

Fourteen children with generalized morphea involving all levels of the skin and soft tissues were examined. The term "acral pansclerotic morphea" describes the distribution and the multiple levels of sclerosis. Lymphocytic inflammation and hyaline pannicultitis were observed on biopsy specimens in some cases. Laboratory data were characterized by a polyclonal elevation of gamma-globulin level and by peripheral eosinophilia. Pulmonary changes in five patients and esophageal changes in one imply that acral pansclerotic morphea may be assoicated with mild nonprogressive visceral change. Although cyclophosphamide may retard the process, no satisfactory treatment for progressive, mutilating acral pansclerotic morphea has been found.

Adolescent↗
PubMed1980

Toxic doses of vitamin A for pityriasis rubra pilaris.

Seven patients who were disabled by pityriasis rubra pilaris were given toxic doses of oral vitamin A (1 million IU/day in six of the seven patients) for five to 14 days. Within 72 hours, the patients began to exfoliate the hyperkeratotic and keratodermatous lesions. The desquamative process was completed between ten and 14 days. The skin remained erythematous for several months before assuming a normal color. The skin of six of the seven patients was virtually cleared by the treatment, and none suffered a relapse of the pityriasis rubra pilaris. Serial skin biopsy specimens showed evidence suggestive of an accelerated turnover rate of epidermal cells during treatment. Transient abnormalities of liver function test results were noted in two patients.

Adult↗
PubMed1980

[Trichoepithelioma].

Trichoepithelioma can be classified according to clinical and especially histopathological criteria. The following review illustrates the histological variants of this tumor.

Diagnosis, Differential↗
PubMed1977

Serum IgE in dermatitis and dermatosis: an analysis of 497 cases.

Serum IgE values from 497 patients with various forms of dermatitis, dermatosis, and tinea pedis were analyzed statistically and compared with values from 95 normal controls. The median and geometric mean values were significantly elevated (except in acne without atopy, lichen planus, and tinea pedis), even after exclusion of patients with a history of atopy or of cutaneous reaction to food or drugs. Serum IgE levels and atopic dermatitis have a close correlation. A modest positive correlation (p approximately equal to .05) appeared between the log serum IgE level and peripheral blood absolute eosinophil count in 80 cases of atopic dermatitis. A unique group of adult nonatopic patients had acquired generalized dermatitis and markedly elevated serum IgE levels (greater than 12,000 ng/ml). Our results suggest that, in most common dermatologic disorders, elevated serum IgE is a secondary phenomenon rather than a primary causative factor.

Acne Vulgaris↗