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KeywordsPseudoxanthoma elasticum; presymptomatic testing; mutation analysis Sir, Pseudoxanthoma elasticum (PXE) is a multi-system disorder characterized by ectopic mineralization of extracellular matrix of connective tissues (For review, see ref 1). The disease primarily affects the skin, the eyes, and the cardiovascular system, with considerable mortality and occasional morbidity. The characteristic skin manifestations, i.e., yellowish papules, which tend to coalesce into larger inelastic plaques on the predilection sites, are primarily of cosmetic concern, but they imply the risk for development of serious ocular and vascular complications.PXE is caused by mutations in the ABCC6 gene which encodes transmembrane transporter expressed primarily in the liver and kidneys2. The precise function of this transporter under physiologic conditions and its ligand molecules in vivo are currently unknown. It has been suggested, however, largely based on animal studies utilizing an Abcc6 "knock-out" mouse as a model system, that PXE is a metabolic disorder which in the absence of functional ABCC6 transporter activity results in deficiency of anti-mineralization factors in the circulation3. This situation then allows progressive mineralization of the peripheral connective tissues to ensue.Well over 300 mutant ABCC6 alleles have been identified in families with PXE, and mutation analysis has established that PXE is an autosomal recessive disorder4,5. The utility of mutation detection in PXE is emphasized by the fact that the onset of the disease is delayed, and definitive diagnosis in patients with PXE is often not established until late
A 45-year-old women presented with multifocal scalp lesions with the clinical impression of alopecia areata. Histological findings first suggested cytophagic histiocytic panniculitis, although a 'burned-out' panniculitis-like T-cell lymphoma could not be excluded. After a 20-month follow-up period, assessment of the T-cell receptor gamma-chain gene rearrangement verified the diagnosis of subcutaneous panniculitis-like T-cell lymphoma. This case is interesting because of its isolated scalp manifestation as well as its indolent course.
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