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Pseudoxanthoma elasticum
Clinical Picture
Pseudoxanthoma elasticum Jui-Hung Ko, Yi-Chin Shih, Yu-Huei Huang, Chih-Hsun Yang
A 21-year-old woman presented with a 2-year history of asymptomatic skin irregularity on her neck. On physical examination, there were multiple pinheadsized yellowish flat-topped waxy papules on the anterolateral aspects of the neck (figure A). Direct ophthalmoscopy showed prominent angioid streaks (figure B, green arrowheads) with nasal drusen on the right eye (figure B, white arrowheads) and less obvious ones on the left eye. A biopsy sample from the skin of her neck showed a band of degenerated clumps of basophilic elastic fibres in the upper reticular dermis (figure C, green arrows) and Von Kossa stains were positive for calcium deposits within the degenerated
elastic fibres (figure D). The condition is known as pseudoxanthoma elasticum resulting from fragmentation of elastic fibres in the connective tissue of the skin, the brush membrane of the retina, gastrointestinal and cardiovascular systems. Two-dimensional echocardiography was normal. There was no evidence of gastrointestinal haemorrhage and the urinalysis and lipid profiles were all within normal limits. Physicians should be aware of the associated systemic involvement of pseudoxanthoma elasticum. Timely diagnosis of the disease might minimise the devastating ocular and cardiovascular complications of blindness and intracranial aneurysm rupture.
A
B
C
D
40 μm
Lancet 2013; 381: 565 Published Online October 19, 2012 http://dx.doi.org/10.1016/ S0140-6736(12)61130-1 Department of Dermatology Chang Gung Memorial Hospital, Taipei, Taiwan (J-H Ko MD, Y-C Shih MD, Y-H Huang MD, C-H Yang MD); and Chang Gung University College of Medicine, Taoyuan, Taiwan (J-H Ko MD, Y-C Shih MD, Y-H Huang MD, C-H Yang MD) Correspondence to: Dr Yu-Huei Huang, 199 Tung-Hwa North Road, Department of Dermatology, Chang Gung Memorial Hospital, Taipei 105, Taiwan [email protected]
20 μm
Figure: Pseudoxanthoma elasticum (A) Photograph of the neck of our patient showing several yellowish waxy papules. (B) Direct ophthalmoscopy of the right eye showing characteristic angioid streaks (green arrowheads) with nasal drusen (white arrowheads). (C) Histological examination of the skin biopsy showed fragmentation of elastic fibres (green arrowheads) in the reticular dermis. (D) Calcium deposits in the elastic fibres confirmed by Von Kossa stains.
www.thelancet.com Vol 381 February 16, 2013
565
Pseudoxanthoma elasticum Jui-Hung Ko, Yi-Chin Shih, Yu-Huei Huang, Chih-Hsun Yang
A 21-year-old woman presented with a 2-year history of asymptomatic skin irregularity on her neck. On physical examination, there were multiple pinheadsized yellowish flat-topped waxy papules on the anterolateral aspects of the neck (figure A). Direct ophthalmoscopy showed prominent angioid streaks (figure B, green arrowheads) with nasal drusen on the right eye (figure B, white arrowheads) and less obvious ones on the left eye. A biopsy sample from the skin of her neck showed a band of degenerated clumps of basophilic elastic fibres in the upper reticular dermis (figure C, green arrows) and Von Kossa stains were positive for calcium deposits within the degenerated
elastic fibres (figure D). The condition is known as pseudoxanthoma elasticum resulting from fragmentation of elastic fibres in the connective tissue of the skin, the brush membrane of the retina, gastrointestinal and cardiovascular systems. Two-dimensional echocardiography was normal. There was no evidence of gastrointestinal haemorrhage and the urinalysis and lipid profiles were all within normal limits. Physicians should be aware of the associated systemic involvement of pseudoxanthoma elasticum. Timely diagnosis of the disease might minimise the devastating ocular and cardiovascular complications of blindness and intracranial aneurysm rupture.
A
B
C
D
40 μm
Lancet 2013; 381: 565 Published Online October 19, 2012 http://dx.doi.org/10.1016/ S0140-6736(12)61130-1 Department of Dermatology Chang Gung Memorial Hospital, Taipei, Taiwan (J-H Ko MD, Y-C Shih MD, Y-H Huang MD, C-H Yang MD); and Chang Gung University College of Medicine, Taoyuan, Taiwan (J-H Ko MD, Y-C Shih MD, Y-H Huang MD, C-H Yang MD) Correspondence to: Dr Yu-Huei Huang, 199 Tung-Hwa North Road, Department of Dermatology, Chang Gung Memorial Hospital, Taipei 105, Taiwan [email protected]
20 μm
Figure: Pseudoxanthoma elasticum (A) Photograph of the neck of our patient showing several yellowish waxy papules. (B) Direct ophthalmoscopy of the right eye showing characteristic angioid streaks (green arrowheads) with nasal drusen (white arrowheads). (C) Histological examination of the skin biopsy showed fragmentation of elastic fibres (green arrowheads) in the reticular dermis. (D) Calcium deposits in the elastic fibres confirmed by Von Kossa stains.
www.thelancet.com Vol 381 February 16, 2013
565