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Biomedical subjects

A Torrelo

Publications and source records attributed to A Torrelo.

At least 19 recordsLinked to original sources
PubMed1999

Cholesteatoma in a child with congenital ichthyosiform erythroderma.

A 7-year-old girl had non-bullous congenital ichthyosiform erythroderma (NBCIE) in treatment with retinoids. She also suffered continuous desquamation of the external ears, recurrent external otitis, chronic adenoiditis, tubaric dysfunction and intermittent episodes of otitis media and developed a cholesteatoma in her left ear. Chronic scaling disorders, such as NBCIE and other ichthyosis, can be entities at risk for the development of cholesteatoma in childhood.

Child↗
PubMed1999

The CD69 early activation molecule is overexpressed in human bone marrow mast cells from adults with indolent systemic mast cell disease.

We have analysed the quantitative expression of surface CD69 antigen on human mast cells (MC), from both normal and pathological bone marrow (BM) samples, using flow cytometry. Our major aim was to analyse whether CD69 is constitutively expressed by normal BMMC and to explore the possible differences between CD69 expression by BMMC from normal controls and patients suffering from different pathological conditions. The constitutive expression of surface CD69 was clearly demonstrated in BMMC; however, systemic mast cell disease (SMCD) patients showed significantly higher levels of surface CD69 expression than healthy controls (P < 0.001), chronic lymphocytic leukaemia (P = 0.001), monoclonal gammopathy of unknown significance (P < 0.001), multiple myeloma (P < 0.001) patients, and myelodysplastic syndromes (P = 0.002). Furthermore, almost no overlap between the levels of CD69 expression on BMMC was observed between SMCD cases and the remaining groups of individuals except for the paediatric mastocytosis group (P > 0.05). From the other groups of patients, monoclonal gammopathy of unknown significance (P = 0.04), myelodysplastic syndromes (P = 0.03) and paediatric mastocytosis (P = 0.003) cases showed a significantly higher expression of surface CD69 as compared to normal subjects. In summary, our findings show that the CD69 antigen is overexpressed in SMCD patients.

Adolescent↗
PubMed1998

Human bone marrow mast cells from indolent systemic mast cell disease constitutively express increased amounts of the CD63 protein on their surface.

The quantitative measurement of the expression of both cytoplasmic and surface CD63 antigen by human mast cells from both normal and pathological bone marrow samples was studied by use of flow cytometry. Our major goal was to analyze whether in vivo CD63 expression by human bone marrow mast cells could be useful to discriminate bone marrow mast cells from patients with mastocytosis from other conditions. For that purpose, a total of 65 subjects corresponding to 12 healthy volunteers, 25 B-cell chronic lymphoproliferative disorders, 5 reactive bone marrow samples, 4 myelodysplastic syndromes, and 19 mastocytosis were analyzed. The expression of both surface and cytoplasmic CD63 by human bone marrow mast cells is clearly demonstrated. Our results show that high amounts of CD63 are present in human bone marrow mast cells most of it corresponding to an intracellular localization. No significant differences in CD63 expression were observed as regards both total and cytoplasmic CD63, except for higher CD63 levels in adult patients with mastocytosis (P = 0.05). By contrast, the mean level of surface CD63 significantly varied between the different groups of individuals. Accordingly, patients with monoclonal gammopathies displayed a slight decrease (P = 0.1) in surface CD63 expression, whereas bone marrow mast cells from adults with indolent systemic mast cell disease showed significantly (P = 0.0005) higher levels of surface CD63 as compared to healthy controls.

Adult↗
PubMed1998

Informativeness of polymorphic markers for prenatal diagnosis of recessive dystrophic epidermolysis bullosa in Spanish families at risk.

DNA polymorphic markers are useful for the prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa (GRDEB) in families with at least one child affected with the disease. It is our policy to investigate families at risk using DNA polymorphic markers before a new pregnancy is intended, to inform about the real chances of offering an accurate prenatal diagnosis based on such DNA markers. We have analysed 10 Spanish families with at least one child affected with GRDEB with three different markers linked to the type VII collagen gene: the intragenic PvuII RFLP, and two markers mapped close to the COL7A1 gene, an MspI polymorphism belonging to the anonymous marker D3S2, and the microsatellite D3S1100. The PvuII marker was partially informative in two of 10 families, and was fully informative in three additional families; The MspI marker was partially informative in two of 10 families, and was fully informative in three additional families; it was not informative in five families. The D3S1100 microsatellite was partially informative in two out of 10 families, and fully informative in the other eight families. Combination of all three markers was shown to be partially informative in one family and fully informative in the remaining nine families. Using this combination of markers, we have inferred an accurate linkage-based prenatal diagnosis of GRDEB in four pregnancies. Surprisingly, the intragenic marker PvuII had a very limited usefulness, despite the results of previous studies; the microsatellite D3S1100 offered the best results for an eventual prenatal diagnosis of GRDEB. However, families at risk should be informed that extragenic markers may fail due to the possibility of recombination, estimated as 5% for D3S1100.

Collagen↗
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

Hobnail hemangioma.

We report a case of hobnail hemangioma presenting as a congenital 2-mm brownish papule on the face of an 11-year-old girl. Hobnail hemangiomas have recently been characterized as a group, and they are related to the so-called targetoid hemosiderotic hemangiomas. Immunohistochemical data (positivity for factor VIII-related antigen, CD-34 and CD-31) support a vascular origin.

Antigens, CD34↗
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↗
PubMed1992

Lymphomatoid granulomatosis presenting as angioedema.

We describe a patient with severe eyelid and lip angioedema lesions in whom biopsy specimens from angioedematous labial mucosa disclosed features of lymphomatoid granulomatosis. To our knowledge, angioedema lesions with characteristic histological findings of lymphomatoid granulomatosis have not been previously described as a presenting sign of this disease.

Adult↗
PubMed1992

Interferon-alpha therapy in atopic dermatitis.

Thirteen patients with a severe adult form of atopic dermatitis (AD) received 3.0 x 10(6) IU of recombinant interferon-alpha 2a (rIFN-alpha 2a) 3 times a week. A satisfactory response was obtained in 5 of them. Serum IgE levels in all 13 patients remained unchanged throughout the study. Flu-like symptoms were common, but clinical or laboratory adverse effects were otherwise slight. The moderately beneficial therapeutic effects observed in this study support a possible role for IFN-alpha in controlling immunologic deficiencies in atopic dermatitis.

Adolescent↗