A 24-year-old female presented with yellowish-white papules emerging at 20 years of age, clustering, and the gradually expanding in the focal regions of her neck (Picture, left), axilla, lower abdomen, and inguinal area. A skin biopsy revealed deformities in the elastic fibers and dermal calcinosis, mainly in the reticular dermis, based on the findings of von Kossa staining (Picture, right). Further examination revealed retinal angioid streaks, leading to a definitive diagnosis of pseudoxanthoma elasticum (PXE). PXE, an autosomal recessive disorder associated with ABCC6 gene variants (1), results in elastic fiber abnormalities in the blood vessels and increases the risk of cardiovascular complications (2). The patient developed hypertension at 12 years of age, with a blood pressure of 162/118 mmHg at that time. Currently, no secondary causes of hypertension other than PXE, such as hormonal disorders and renovascular hypertension, have been identified. She maintained a good blood pressure (123/95 mmHg at the last visit) with 80 mg nifedipine daily as an antihypertensive treatment to prevent any future cardiovascular events.
Picture.
The authors state that they have no Conflict of Interest (COI).
Acknowledgments
The authors would like to thank Dr. Tomoko Miyake, Dr. Hironobu Toda, Dr. Toshiyuki Komaki, Dr. Natsumi Matsuoka-Uchiyama, and Dr. Ryoko Umebayashi for their support in the patient care.
References
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