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Biomedical subjects

Lionel Bercovitch

Publications and source records attributed to Lionel Bercovitch.

11 recordsLinked to original sources
PubMed2005

Metastatic basal cell carcinoma diagnosed by sentinel lymph node biopsy.

Although commonly used in the treatment of melanoma, sentinel lymph node biopsy has not yet been successfully used to detect lymphatic metastasis of basal cell carcinoma because of exceedingly low rates of metastasis. We describe the use of lymphatic mapping and sentinel lymph node biopsy in a patient after basal cell carcinoma was identified within a lymphatic vessel in the primary excisional specimen. As a result, the patient was found to have clusters of basal cell carcinoma in a sentinel lymph node resected from the right deltopectoral groove. Although metastatic basal cell carcinoma is exceedingly rare, we conclude that sentinel lymph node biopsy may be useful for certain high-risk lesions, such as lesions demonstrating histologic evidence of lymphatic invasion. Further experience is necessary to determine the clinical usefulness of sentinel node biopsy in these patients and its effect on patient survival.

Aged, 80 and over↗
PubMed2004

Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes.

Elastic fibers in the extracellular matrix are an integral component of dermal connective tissue. The resilience and elasticity required for normal structure and function of the skin may be attributed to the network of elastic tissue. Advances in our understanding of elastic tissue physiology provide a foundation for studying the pathogenesis of elastic tissue disorders. Many acquired disorders are nevertheless poorly understood due to the paucity of reported cases. Several acquired disorders in which accumulation or elastotic degeneration of dermal elastic fibers produces prominent clinical and histopathologic features have recently been described. They include elastoderma, linear focal elastosis, and late-onset focal dermal elastosis and must be differentiated from better-known disorders, among them acquired pseudoxanthoma elasticum, elastosis perforans serpiginosa, and Favré-Racouchot syndrome. Learning objective At the conclusion of this learning activity, participants should understand the similarities and differences between acquired disorders of elastic tissue that are characterized by an increase in elastic tissue, as well as the spectrum of solar elastotic dermatoses.

Connective Tissue Diseases↗
PubMed2004

Acquired disorders of elastic tissue: Part II. decreased elastic tissue.

Elastic fibers in the extracellular matrix are integral components of dermal connective tissue. The resilience and elasticity required for normal structure and function of the skin are attributable to the network of elastic tissue. Advances in our understanding of elastic tissue physiology provide a foundation for studying the pathogenesis of elastic tissue disorders. Many acquired disorders are nevertheless poorly understood owing to the paucity of reported cases. Several acquired disorders in which loss of dermal elastic tissue produces prominent clinical and histopathologic features have recently been described, including middermal elastolysis, papular elastorrhexis, and pseudoxanthoma-like papillary dermal elastolysis, which must be differentiated from more well-known disorders such as anetoderma, acquired cutis laxa, and acrokeratoelastoidosis. Learning objective At the conclusion of this learning activity, participants should have an understanding of the similarities and differences between acquired disorders of elastic tissue that are characterized by a loss of elastic tissue.

Adolescent↗
PubMed2003

Massive exophytic abscesses and fibrotic masses of the chin: a variant of the follicular occlusion triad.

We present a patient with an extensive cluster of exophytic nodules that developed on his chin. These nodules consisted of abscesses and fibrotic areas. Lesion morphology, histology, and microbiology support a follicular occlusion triad entity. However, the distribution is striking and does not fit the entities described in the triad. We present the case to show that follicular occlusion was the inciting factor in our patient's eruption and to broaden our concept of clinical manifestations that can arise from this pathologic process.

Abscess↗
PubMed2003

Mammographic findings in pseudoxanthoma elasticum.

BACKGROUND: There have been isolated case reports of arterial and skin calcification in mammograms of patients with pseudoxanthoma elasticum (PXE), and unpublished anecdotes of many women with PXE undergoing breast biopsy for evaluation of microcalcifications. OBJECTIVE: Our aim was to systematically evaluate mammography and breast pathology in PXE. METHODS: The mammograms of 51 women with confirmed PXE were compared with those of a control sample of 109 women without PXE, noting each of the following characteristics on each mammogram: breast density, skin thickening, skin microcalcifications, vascular calcification, breast microcalcifications and macrocalcifications, and masses. The characteristics of the 2 samples were compared using the 2-tailed t test with a pooled estimate of variance. The indications for mammography and data for each of the mammographic findings were analyzed using the chi(2) test. Available breast biopsy material was reviewed. RESULTS: The PXE and control groups were similar in age and indications for mammography. There was a statistically significant increase in skin thickening, vascular calcification, and breast microcalcifications in the PXE group (P <.001 each). Breast density, masses, macrocalcifications, and skin calcification did not differ statistically in the 2 groups, but no control patient had axillary calcification, or both vascular calcification and microcalcifications (P <.001). Nearly 1 in 7 of the patients with PXE demonstrated at least 3 of the following: microcalcifications, skin calcifications, vascular calcification, and skin thickening; whereas none of the control group did. Histopathologic findings of breast tissue showed calcification of dermal elastic fibers, subcutaneous arteries, and elastic fibers of the deep fascia and interlobular septae of the fat adjacent to breast parenchyma. CONCLUSION: Breast microcalcification and arterial calcification are not rare in the normal population and are not of diagnostic value. The presence of both of these findings, especially with skin thickening or axillary skin calcification, should suggest a diagnosis of PXE. The majority of breast calcifications in PXE are benign.

Adult↗
PubMed2003

Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is an inherited disease with many systemic complications. Its diagnosis can be easily overlooked. The purpose of this study was to assess a new clinical sign of PXE. A total of 47 consecutive patients with PXE were examined for mental creases and compared with 47 age-matched control patients. Photographs were evaluated by a blinded investigator. Mental creases were present in 43 of 47 patients with PXE, affected the majority of individuals in every age group, and were significantly more common than in control patients (P <.0001). Under the age of 30 years, two thirds of patients with PXE had mental creases whereas mental creases were not present in any age-matched control patients. Mental creases commonly occur in patients with PXE. In young patients they are a sensitive and highly specific physical finding of this disorder. The presence of exaggerated mental creases is, thus, a useful physical marker for PXE.

Adolescent↗
PubMed2002

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.

Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 ( MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A notable exception however is the prevalence of PXE among South African Afrikaners. A previous report has suggested that a founder effect may explain the higher prevalence of PXE in Afrikaners, a European-derived population that first settled in South Africa in the 17th century. To investigate this hypothesis, we performed haplotype and mutational analysis of DNA from 24 South African families of Afrikaner, British and Indian descent. Among the 17 Afrikaner families studied, three common haplotypes and six different disease-causing variants were identified. Three of these mutant alleles were missense variants, two were nonsense mutations and one was a single base-pair insertion. The most common variant accounted for 53% of the PXE alleles, whereas other mutant alleles appeared at lower frequencies ranging from 3% to 12%. Haplotype analysis of the Afrikaner families showed that the three most frequent mutations were identical-by-descent, indicating a founder origin of PXE in this population.

Founder Effect↗
PubMedDate not supplied

Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene, encoding for the membrane transporter MRP6, whose physiological role is still unknown. PXE is characterized by skin, eye, and cardiovascular alterations mainly due to mineralization of elastic fibers. The ultrastructural alterations of a large number of tissues obtained at autopsy from 2 PXE patients were analyzed and compared to clarify the involvement of the various organs in PXE and to identify cell types responsible for clinical manifestations. Ultrastructural alterations typical of PXE were present in all organs examined and consisted mostly of fragmentation and mineralization of a number of elastic fibers, abnormalities of collagen fibril shape and size, and, less frequently, deposition of aggregates of matrix constituents in the extracellular space. The severity of alterations was more pronounced in the organs affected by the clinical manifestations of PXE. Interestingly, veins and arteries were similarly damaged, the adventitia and the perivascular connective tissue being the most affected areas. Therefore, alterations in PXE are systemic and affect all soft connective tissues, even in the absence of specific clinical manifestations. The localization of alterations suggests that fibroblasts and/or smooth muscle cells are very likely involved in the pathogenesis of the disorder. These findings may help in the diagnosis of PXE when clinical manifestations affect internal organs.

Adult↗