ReportsCharacterization of pseudoxanthoma elasticum-like lesions in the skin of patients with β-thalassemia☆,☆☆,★
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.
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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Cited by (0)
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Supported by Telethon—Italy (grant E696).
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Reprint requests: Professor I. Pasquali Ronchetti, Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi, 287, 41100-Modena, Italy.
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J Am Acad Dermatol 2001;44:33-9.