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Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with β-thalassemia,☆☆,

https://doi.org/10.1067/mjd.2001.110045Get rights and content

Abstract

Background: Pseudoxanthoma elasticum (PXE), an inherited disorder of unknown pathogenesis, is characterized by elastic fiber mineralization, collagen fibril alterations, and accumulation of thread material in the extracellular space. PXE-like clinical lesions have been described in patients with β-thalassemia. Objective and Methods: Dermal lesions in these two genetic disorders were compared by light and electron microscopy and by immunocytochemistry. Results: In both disorders, elastic fiber polymorphism, fragmentation, and mineralization were structurally identical. Elastic fiber mineralization in β-thalassemia was associated with vitronectin, bone sialoprotein, and alkaline phosphatase, similar to what was observed in inherited PXE. Furthermore, abnormalities of collagen fibrils and filament aggregates were identical in both disorders. In both inherited and β-thalassemia-associated PXE, unrelated gene defects seem to induce cell metabolic abnormalities that lead to identical clinical and structural phenotypes. Conclusion: Data indicate that patients with β-thalassemia may undergo important alterations of connective tissues, a better understanding of which may help in preventing clinical complications. (J Am Acad Dermatol 2001;44:33-9.)

Section snippets

Clinical cases

This study was approved by the Ethics Committee of the Faculty of Medicine of the University of Modena and Reggio Emilia. After informed consent forms were signed, skin biopsy specimens were obtained from 2 patients with β-thalassemia who suffered from skin and ocular lesions typical of PXE and from 10 patients with inherited PXE who belonged to a group of Italian PXE families under investigation. Skin samples were also examined from relatives of patients with β-thalassemia. Two were normal

Results

Laboratory data of subjects with β-thalassemia and PXE-like lesions did not reveal any significant differences compared with patients with β-thalassemia without skin and ocular PXE-like lesions.

As already described in the literature,1 laboratory data of patients with PXE did not reveal any significant abnormality.

Fig 1 illustrates the reticular dermis from the skin of a patient with β-thalassemia and PXE-like clinical manifestations.

. Von Kossa stain of reticular dermis of patient with

Discussion

This study gives ultrastructural and immunochemical evidence that connective tissue may be severely altered in β-thalassemia. Previous clinical studies by Aessopos et al10, 11 and the present data indicate that identical dermal alterations can be present in two distinct inherited disorders, β-thalassemia and PXE, the genes of which are located on different chromosomes: 11 and 16, respectively. The results of this study demonstrated that lesions were identical in the following respects: (1)

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    Supported by Telethon—Italy (grant E696).

    ☆☆

    Reprint requests: Professor I. Pasquali Ronchetti, Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi, 287, 41100-Modena, Italy.

    J Am Acad Dermatol 2001;44:33-9.

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