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 (69)
Exome sequencing and bioinformatic approaches reveals rare sequence variants involved in cell signalling and elastic fibre homeostasis: new evidence in the development of ectopic calcification
2019, Cellular SignallingCitation Excerpt :Slides were washed, mounted and evaluated using a Zeiss light microscope. Morphological analyses of dermal biopsies from affected areas showed the presence of connective tissue alterations as previously reported [4]. In particular, von Kossa staining demonstrated the presence of mineral precipitates in specific areas of the reticular dermis (Fig. 1A, B).
Disorders and Mechanisms of Ectopic Calcification
2018, Genetics of Bone Biology and Skeletal Disease: Second EditionEfficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum
2015, Journal of Investigative DermatologyThe prevalence of pseudoxanthoma elasticum-like connective tissue changes in an oral biopsy service and review of the literature
2015, Oral Surgery, Oral Medicine, Oral Pathology and Oral RadiologyCitation Excerpt :Major and minor diagnostic criteria were defined, with delineation of requirements for the diagnosis of PXE as “definitive diagnosis,” “probable diagnosis,” and “possible diagnosis” (Table IV).27 Further complicating the diagnosis associated with a variable phenotype and inter- and intrafamilial heterogeneity, PXE-like clinical and histopathologic manifestations can also be found in unrelated acquired or genetic conditions that lack the ABCC6 mutation.9,15,17,18,26,34,35,43 The preferred terminology for the nonheritable form of PXE is localized acquired pseudoxanthoma elasticum.9
Pseudoxanthoma elasticum
2015, Handbook of Clinical NeurologyCitation Excerpt :While angioid streaks are highly suggestive of PXE, they are not pathognomonic of the disorder. Angioid streaks have also been documented in individuals with Paget disease of bone, sickle-cell disease, β-thalassemia, and Marfan syndrome (Neldner, 1988; Lebwohl et al., 1993; Baccarani-Contri et al., 2001; Yu et al., 2009). Several acquired skin lesions can resemble hereditary PXE.
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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.