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Biomedical subjects

A Zambrano

Publications and source records attributed to A Zambrano.

At least 37 records · Page 2Linked to original sources
PubMed1997

Absolute linkage of celiac disease and dermatitis herpetiformis to HLA-DQ.

This report shows the absolute genetic linkage of celiac disease (CD) to the HLA-DQ region, and supports the fact that dermatitis herpetiformis (DH) follows the same pattern of HLA-mediated susceptibility in extensive series of Caucasian Spanish patients. Ninety-five percent of CD (201 of 212) and 100% of DH (55) patients could produce DQ alpha 1*0501-DQ beta 1*02 heterodimers. Negative CD patients for this combination were mostly DR4-DQ8 (DQA1*03-DQB1*0302) (9 OF 11), along with a restricted number of complementary chromosomes. Comparison of observed and expected DQA1-DQB1 genotype distributions (Hardy-Weinberg equilibrium) showed that the excess of patients with DQB1*02 in double doses would be the consequence for which this allele should be complemented by DQA1*0501. Homozygosity for DQA1*0501 would restrain susceptibility to CD and DH.

Alleles↗
PubMed1995

Costello syndrome.

Costello syndrome is an uncommon multisystemic condition with highly characteristic cutaneous manifestations. We describe here the case of a patient with Costello syndrome, and review previous reports of this entity.

Abnormalities, Multiple↗
PubMed1995

Caseating cutaneous granulomas in a child with common variable immunodeficiency.

Cutaneous, noninfectious, granulomatous lesions have been reported occasionally in different types of immunodeficiencies, including common variable immunodeficiency (CVD). We present a child with CVID and cutaneous granulomas with a strikingly prominent caseating necrosis. We think that such granulomatous lesions constitute a distinctive manifestation of immunodeficiency, and may reflect a altered immune response. Corticosteroids have been of benefit to our patient, as well as in similar cases.

Child↗
PubMed1995

Stiff skin syndrome: a case report and review of the literature.

Stiff skin syndrome (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild hypertrichosis. We present a severe case in a 4-year-old boy. In addition to the clinical and histological features of SSS, our patient also had muscle and bone involvement along with pyloric stenosis, gastro-esophageal reflux, inguinal hernias and atopic dermatitis. We highlight the complexity of this case and the diagnostic approach to patients with this disorder. We also review and summarize the 24 cases previously reported in the literature.

Child, Preschool↗
PubMed1994

Keratosis lichenoides chronica in a child.

A young boy developed childhood keratosis lichenoides chronica. The eruption cleared spontaneously after 13 years. This is a rare condition, regarded by some as a variant of lichen planus. The great preponderance of cases occur in adults, whereas the disease in childhood is uncommon.

Child, Preschool↗
PubMed1994

Urticaria pigmentosa: a review of 67 pediatric cases.

Mastocytosis is a disorder of mast cell proliferation that may appear during infancy, childhood, or adulthood. We studied 67 consecutive patients (33 males, 34 females) with urticaria pigmentosa and assessed them fully to determine the presence of systemic involvement. Ages at onset of lesions ranged from birth to 11 years, with most developing in the first year of life. Pruritus was the primary symptom. Hematologic and serum chemistry profile, radiologic skeletal surveys, and bone marrow aspirations were performed. Slight anemia was present in three patients. Radiologic bone lesions were observed in eight. Bone marrow aspirates showed slight changes in six patients, with only an increased number of mast cells in an additional patient. The disease tended to resolve spontaneously. This prospective study emphasizes the benign nature of pediatric urticaria pigmentosa.

Age of Onset↗
PubMed1985

Acute myocardial infarction with "normal" coronary arteries: clinical and angiographic profiles, with ergonovine testing.

Among 528 patients consecutively undergoing selective coronary angiography after acute myocardial infarction, ten cases (1.9%) with angiographically normal coronary arteries were identified. Eight of these ten patients were 45 years of age or younger and comprised 11% of those studied in this age group, with higher prevalence in females (five of 18 [28%]) versus males, (three of 57 [5%]). Common features besides the young age of patients included predominance of female sex, smoking as a risk factor, and the lack of preinfarction symptoms. An ergonovine test was carried out in seven of these patients, and all tested patients failed to show any evidence of focal coronary spasm. Three patients had recanalization of the infarct-related vessel by intracoronary streptokinase. The lack of a history of variant angina in nine patients, the negative response to ergonovine provocation in seven, and documented thrombolysis after intracoronary streptokinase in three seem to indicate that a thrombotic process is a leading factor in myocardial infarction in such cases. Angiographic studies of this young subset of patients would enhance their identification and might reveal the pathophysiologic mechanisms involved with potentially significant clinical implications. Long-term follow-up of such cases will be needed to determine their ultimate prognosis.

Journal Article↗
PubMedDate not supplied

[Solitary giant cell collagenoma].

Collagenoma or collagen nevus of the connective tissue is a hamartomatous malformation of the dermis, characterized by a proliferation of normal collagen tissue. This may be congenital or acquired, solitary or multiple, hereditary or sporadic. The solitary type are sporadic, not associated with any disease, and may appear on any part of the body. Histology studies show an increase of collagen fibers in the dermis and a variable decrease in elastic fibers. We discuss the case of a child with a solitary giant cerebriform collagenoma on the lumbar region of her back.

Adolescent↗