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Biomedical subjects

R Botella-Estrada

Publications and source records attributed to R Botella-Estrada.

At least 19 recordsLinked to original sources

[Adenoid cystic carcinoma].

Adenoid cystic carcinoma is an uncommon tumor of the head and neck. Although it is mainly located in the salivary gland, a skin location has also been described. Metastases are rare, but 50 % of the cases relapse. A 65-year-old male patient had a lesion in the upper lip. After resection, the histological diagnosis was adenoid cystic carcinoma. Treatment was completed with radiotherapy. Ten years later, a nodule was detected in the neck. Its histological diagnosis was lymphatic metastasis due to adenoid cystic carcinoma. Primary cutaneous adenoid cystic carcinoma is a very uncommon tumor in which treatment consists in extensive local excision with free margins. Radiotherapy is not curative and should be reserved for palliative treatments. Multicenter, prospective studies are necessary to determine the best treatment and especially the adjuvant treatment for adenoid cystic carcinoma.

Aged↗

HLA class II polymorphisms in Spanish melanoma patients: homozygosity for HLA-DQA1 locus can be a potential melanoma risk factor.

BACKGROUND: The association of melanoma with HLA class II loci is under extensive debate. Different investigators have found discrepant results due to, at least in part, sample size, patient series heterogeneity, choice of control population and differences in the techniques employed for the detection of HLA antigens and alleles. OBJECTIVES: This study was designed to analyse the possible association of melanoma with HLA class II loci with regard to different clinic pathological factors and to investigate other risk factors for melanoma susceptibility, such as HLA homozygosity. PATIENTS AND METHODS: HLA-DRB1, -DQA1 and -DQB1 genotyping was performed for 117 eastern Spanish patients presenting with primary melanoma. RESULTS: Although there were no significant alterations in the phenotypic frequencies of HLA-DQA1, -DQB1 or -DRB1 alleles in any subgroup of patients when compared with controls, patients exhibited a statistically significant increase in HLA-DQA1 homozygosity rate. This DQA1 homozygosity-specific association was particularly dependent on some features in melanoma patients such as light hair colour, skin type I or II, early age at diagnosis, absence of atypical naevi, or abscence of atypical naevus syndrome phenotype (aetiological fractions about 10-20%). Analysis of homozygosity for single DQA1 alleles showed an increased homozygosity rate for DQA1*0505 and DQA1*0301 in comparison with controls. These DQA1 alleles are in strong linkage disequilibrium with DQB1*0301 in white populations, and DQB1*0301 homozygous individuals were significantly increased in red in or fair-haired patients (relative risk 5.65). CONCLUSIONS: Our results indicate that the contribution of HLA class II alleles to primary melanoma incidence is not significant in the Spanish population. However, homozygosity for the HLA-DQA1 locus (and, perhaps, for the HLA-DQB1*0301 allele) might be considered a potential risk factor for developing melanoma depending on the person's genetic background and, perhaps, on certain environmental conditions.

Adult↗

Clinical, dermoscopy and histological correlation study of melanotic pigmentations in excision scars of melanocytic tumours.

BACKGROUND: Melanotic pigmentations in scars consecutive to the excision of melanocytic tumours can be secondary to a reactive phenomenon related to the scar tissue or to a recurrence of the melanocytic lesion excised in the first case. Recurrent naevi may sometimes adopt unusual features that make them difficult to differentiate from a melanoma. OBJECTIVES: To describe the clinical, dermoscopic and histological features of melanotic pigmentations in scars consecutive to the excision of melanocytic tumours, and to correlate the histological diagnosis with the dermoscopic features. METHODS: This was a prospective cohort study using macrophotography, dermoscopy and histopathological study. Ninety-five melanotic pigmentations (77 patients) in scars secondary to the excision of melanocytic tumours were prospectively collected in the Department of Dermatology at the Instituto Valenciano de Oncología in Valencia, Spain. Histopathological study was performed in 57 scars. RESULTS: Thirteen dermoscopic structures were identified. Four criteria allowed a differentiation between reactive and specific melanocytic pigmentations. Presence of globules and presence of heterogeneous pigmentation were features associated with specific melanocytic pigmentations (P < 0.0001). Presence of a regular network and presence of streaks were more frequently found in reactive pigmentations (P = 0.023 and 0.026, respectively). CONCLUSIONS: Dermoscopic examination of melanotic pigmentations in excision scars of melanocytic tumours provides useful information about the origin of that pigmentation. Based on such information, recurrent naevi can be differentiated from reactive pigmentations in most cases. Excision and histopathological diagnosis continue to be imperative in some cases of recurrent naevi with atypical clinical features.

Cicatrix↗

Basal cell carcinoma of the nasolabial fold: an apparently 'benign' tumour that often needs complex surgery.

BACKGROUND: Location of the tumour is a well-known prognostic factor for recurrence of basal cell carcinoma (BCC). We have observed that tumours located in the nasolabial fold may deserve a particular attention. OBJECTIVE: The aim of this study is to evaluate the behaviour of BCC located on the nasolabial fold in comparison to a control group of patients with BCC in lower risk sites, and to detect characteristics which may imply a more complicated treatment or the consideration of adjuvant treatment. METHODS: A series of 24 patients with BCC located on the nasolabial fold were retrospectively recruited from our database of Mohs surgery from January 1997 to December 2000. A control group of 37 patients with BCC located on the cheek or forehead were selected from the same database. The differences between both groups in clinical, surgical and histological terms were evaluated. RESULTS: BCC on the nasolabial fold presented with shorter evolution time from first symptom, had a smaller size, had been less frequently treated before and showed mostly non-aggressive histologic subtype, but needed more surgical stages and more complex reconstruction. CONCLUSION: We have observed that BCC on the nasolabial fold, despite presenting with better clinical and histological features, needed more complicated surgery. In our opinion, this location warrants a particular attention and further prospective studies should be made to corroborate our findings.

Aged↗

An amalgam tattoo on the oral mucosa related to a dental prosthesis.

A 60-year-old woman presented with a pigmented lesion on the upper left gingival mucosa of 2 years duration. The lesion was in an area where a dental metallic prosthesis had been inserted into a nearby tooth several years earlier. A biopsy of the affected mucosa showed aggregates of pigmented granules varying in size in the dermis, extracellular matrix and within macrophages; these did not stain with melanin stains. The diagnosis was consistent with an amalgam tattoo.

Biopsy↗

Vesiculous prurigo pigmentosa in a 13-year-old girl: good response to isotretinoin.

Prurigo pigmentosa is a rare inflammatory disease of unknown origin, first reported from Japan, with only 33 cases described in non-Japanese patients. We describe a 13-year-old girl with a pruriginous symmetrical eruption of papules and vesicles affecting her back, neck and chest of 1 month duration. She remembered a similar, but lighter eruption, 2 months before. As the initial diagnosis was of a vesiculobullous form of Darier disease, treatment with isotretinoin 40 mg/day was started with good response. Histological study showed a superficial perivascular and interstitial dermatitis composed predominantly of lymphocytes. The epidermis was spongiotic, with exocytosis of lymphocytes and some neutrophils and necrotic keratinocytes. All these findings were consistent with prurigo pigmentosa. The lesions resolved leaving a light brown reticulate hyperpigmentation. Prurigo pigmentosa has never been reported in prepubescent patients, the vesiculobullous forms are unusual, and the only treatments used previously are sulphonamides, tetracyclines and macrolides. We report a 13-year-old Caucasian girl with vesiculobullous prurigo pigmentosa successfully treated with isotretinoin.

Administration, Cutaneous↗

Excellent response of basal cell carcinomas and pigmentary changes in xeroderma pigmentosum to imiquimod 5% cream.

Xeroderma pigmentosum (XP) is an autosomal recessive disease in which patients have a 1000-fold increased risk of developing cutaneous neoplasms. Management of patients with XP is a difficult therapeutic challenge as they usually present with many cutaneous malignancies and continue to form skin tumours at a high rate. We describe a 19-year-old woman with XP who had been previously treated with many different therapeutic approaches. She had an excellent clinical response of her multiple small pigmented basal cell carcinomas and pigmentary changes using imiquimod 5% cream with only minor side-effects.

Adult↗

Antitumor effect of B16 melanoma cells genetically modified with the angiogenesis inhibitor rnasin.

The growth of new blood vessels is an essential condition for the development of tumors with a diameter greater than 1-2 mm and also for their metastatic dissemination. RNasin, the placental ribonuclease inhibitor, is known to have antiangiogenic activity through the inhibition of angiogenin and basic fibroblast growth factor. Nevertheless, the administration of the recombinant form of a protein poses several limitations; as a result, we have studied the antitumor effect of RNasin in a murine gene therapy model. RNasin cDNA was subcloned into the pcDNA3 expression vector, and the resulting recombinant plasmid was used to transfect the B16 murine melanoma cell line. An RNasin inverted construction was used as control. Mice intravenously injected with clones expressing RNasin showed a significant inhibition of tumor metastatic progression with respect to control groups (P<.001) and survived longer (P<.001). Tissue sections from RNasin-expressing cell tumors showed a lower number of blood vessels when compared to tissue sections from mice lungs that had been inoculated with control cell lines. The results of these experiments show that the genetic modification of tumor cells with RNasin cDNA yields a significant antitumor effect, and suggest that this effect is at least partially the result of angiogenesis inhibition.

Angiogenesis Inhibitors↗

Extranodal peripheral T-cell lymphoma with angiocentric growth pattern and Epstein-Barr viral DNA associated affecting paratesticular soft tissue.

Peripheral T-cell lymphomas are uncommon, accounting for only 10% to 15% of all non-Hodgkin lymphomas and their classification has been controversial. We report a case of peripheral T-cell lymphoma with angiocentric growth pattern which presented as a paratesticular tumoral nodule in a 47-year-old-man. Formalin-fixed paraffin-embedded samples from the paratesticular tumor and non-infiltrated adjacent tissue were submitted to histological, immunohistochemical, polymerase chain reaction (PCR)-based and in situ hybridization analysis. Histopathologically, there was a lymphomatous infiltrate in the paratesticular soft tissue, composed of a variable mixture of medium-sized to large cells with large cytoplasm and irregular-shaped nuclei, together with blood vessel destruction, necrosis and karyorrhexis. Immunohistochemical study revealed a high p53 expression in neoplastic cells that showed T cytotoxic immunophenotype, failing to express the natural killer (NK)-cell antigen CD56. A monoclonal rearrangement of the T-cell receptor (TCR) gamma gene by a PCR technique was demonstrated. Type-A Epstein-Barr Virus (EBV) DNA was detected by PCR-based analysis. A combined in situ hybridization and immunohistochemical study revealed that most cells labeled positive for EBV RNA showed immunostaining with the CD45RO antibody. Based on the above results, the case reported was classified as extranodal peripheral T-cell lymphoma with cytotoxic phenotype and EBV associated. The present case does not fit neatly into any of the specific types of peripheral T-cell lymphomas of the REAL classification, so a diagnosis of peripheral T-cell lymphoma unspecified was made.

Antibodies↗

Photodynamic therapy for in situ squamous cell carcinoma on chronic radiation dermatitis after photosensitization with 5-aminolaevulinic acid.

The accessibility of the skin to light treatment, as well as the developments made by dermatologists in photodynamic therapy (PDT), creates an exciting apportunity to include it as a part of our standard therapeutic armamentarium. We report a 63-year-old man with an in situ squamous cell carcinoma located on a chronic radiodermitis area in a finger, treated successfully with PDT. PDT appears to be a viable alternative to conventional therapy for in situ squamous cell carcinoma as well as for other superficial tumours of the skin.

Aminolevulinic Acid↗

Benign lymphangioendothelioma of the thigh simulating a low-grade angiosarcoma.

Benign lymphangioendothelioma (BL) is a rare vascular neoplasm that can histopathologically mimic a low-grade angiosarcoma or the patch stage of Kaposi sarcoma. We report on the case of a 49-year-old man with a benign lymphangioendothelioma on the right thigh that evolved on a vascular birthmark after a trauma. Because of constant pain and the slow but progressive growth of the lesion, we decided to excise the tumor. Three stages of surgery were needed to obtain negative margins. We review the reports of BL to date, with special attention to those that developed after trauma and those that had a preexistent vascular lesion, and expound on the histopathologic differential diagnosis with low-grade angiosarcoma.

Biomarkers, Tumor↗

Melanotic pigmentation in excision scars of melanocytic and non-melanocytic skin tumors.

The appearance of pigmented lesions in melanoma surgical scars is a frequent finding that in some instances may cause confusion with a melanoma persistence. Nevertheless, only a few papers have dealt with this subject in the dermatologic literature. The melanoma surgical scars of 60 consecutive patients were reviewed with special attention to the presence of pigmentation and its clinical characteristics. Simultaneously, the scars of 60 consecutive patients who had been subjected to excision of a non-melanoma skin tumor were also studied. Biopsies were performed in representative clinical cases of pigmented lesions arising on the scars of both groups, as well as in non-pigmented scars, and processed for hematoxylin-eosin and immunohistochemistry. Pigmented lesions were present in a similar percentage in both groups (30% in melanoma scars (18/60) and 25% in non-melanoma scars (15/60)). Clinically, three types of clinical pigmentation were observed: lentigine-like lesions; pigmented streaks in scars after direct closure; and diffuse pigmentation in grafts. Histologically, two patterns emerged: one with lentiginous epidermal hyperplasia, hyperpigmentation, and a normal or moderately increased number of melanocytes; and a second one characterized by melanocytic hyperplasia of a variable degree. The scar process itself, irrespective of the tumor excised, seems to be responsible for the pigmentation. We suggest the existence of an induction process of scar tissue acting on melanocytes of the overlying epidermis.

Adult↗

Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency.

BACKGROUND: Angiokeratoma corporis diffusum (ACD) was at one time thought to be synonymous with Anderson-Fabry disease. However, it is well known that widespread angiokeratomas may also be found in other lysosomal enzyme disorders, as well as in patients with normal enzyme activities. beta-Mannosidase deficiency was first described in humans in 1986; since then, only 11 cases of beta-mannosidase deficiency, which occurred in 8 families, have been reported. Although the clinical manifestations are varied, mental retardation and neurologic disorders are present in practically all patients. OBSERVATIONS: We describe a 22-year-old woman who, since the age of 12 years, presented with progressive ACD affecting the lower limbs and the buttocks. Enzymatic studies revealed beta-mannosidase deficiency in cultured fibroblasts and in samples of serum and leukocytes. The patients's parents in turn exhibited intermediate enzyme levels, thus confirming the recessive autosomal hereditary nature of the disease. With the exception of an introverted character, the patient demonstrated no other anomalies. CONCLUSIONS: This is the first case of beta-mannosidase deficiency diagnosed as a result of purely dermatologic findings, in the form of ACD. beta-Mannosidase deficiency should therefore be included when screening for enzyme abnormalities in patients with ACD, even in the absence of neurologic disorders or mental retardation.

Adult↗

Erythroderma. A clinicopathological study of 56 cases.

BACKGROUND AND DESIGN: Erythroderma may be the result of many different causes. There are several publications on this subject, most of them from England, the United States, and the Scandinavian countries reporting a different incidence of each etiologic group. Our objective has been to determine the frequency of erythroderma in our environment, its cause, and patient evolution. We reviewed the clinical, laboratory, and biopsy material of 56 patients diagnosed with erythroderma who were treated in our department in the last 8 years (1984 through 1991). Patients were followed up to know the evolution of the erythroderma. RESULTS: The male-female ratio was 4:1. The mean age at diagnosis was 57 years. Dermatoses were the most frequent cause of erythroderma (62.5%), followed by topical or systemic drug reactions (16%), and cutaneous T-cell lymphomas (12.5%). Follow-up information was obtained from 42 patients (66%). Eight patients died (19%), but only in three cases was death directly related to erythroderma (7.14%). The group associated with the best prognosis was that related to drugs. The best clinicohistologic correlation was found in cutaneous T-cell lymphoma-related erythroderma. CONCLUSIONS: Erythroderma of unknown cause and protracted course may be secondary to senile atopic dermatitis, intake of drugs overlooked by the patients, and patients who are in slow progression to cutaneous T-cell lymphoma. Close follow-up of erythrodermas of unknown cause by repeating cutaneous biopsies will in time allow an early diagnosis in patients in the latter group.

Blood Sedimentation↗