Pseudoxanthoma elasticum (PXE; Grönblad-Strandberg syndrome) with nephrocalcinosis

The patient had asymptomatic, skin-colored, flat-topped papules involving the neck and periumblical areas for the last 6 months. Examination revealed 1- to 3-mm yellowish-white papules coalescing to form plaques distributed in the flexures, neck, and the periumbilical area with characteristic "chicken-skin" appearance on the neck (Figure 2). Oral mucosa, scalp, palm, and sole were not involved.

LABORATORY AND PATHOLOGICAL RESULTS

Biochemical investigations revealed a normal hemogram; serum calcium, potassium, uric acid, phosphorus, albumin, urea, and creatinine levels were also normal. Urine examination revealed a 24-hour protein level of 500 mg and normal pH, and there were no blood cells on microscopic examination. Urinary excretion of calcium was estimated (as a calcium:creatinine ratio) and was normal. Stool was negative for occult blood.

Electrocardiogram and 2-dimensional echocardiography of the heart were normal (not shown). Blood pressure was within normal limits. Skin biopsy was performed from the neck, and the specimen was stained with Verhoeff-van Gieson stain, which revealed clumped-up, darkly staining elastic fibers in the mid dermis. Von-Kossa stain revealed basophilic deposits of calcium.

CASE FOLLOW-UP

The patient was asked to follow up regularly. Subsequently, a detailed examination of the family and first-degree relatives was undertaken, which revealed biopsy-proven PXE, without any other complication, in the sister of the patient reported here. The patient was advised to avoid any form of head trauma to prevent retinal hemorrhage. Follow-up after 1 year did not reveal any further complication.

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Prepared by Sumer Kumar Sethi, MD (Radiodiagnosis); Ravi Solanki, MD (Radiodiagnosis); Pitamber Sonkar, MD (Radiodiagnosis); Kabir Sardana MD (Dermatology); Vibhu Mendiratta MD (Dermatology), Departments of Radiodiagnosis and Dermatology, Lady Hardinge Medical College and Associated Kalawati Saran Childrens Hospital, New Delhi, India.

Products Used

• USG scanner (GE Healthcare, Waukesha, WI)
• LOGIQ 400 system (GE Healthcare)