Progressive Neurologic Abnormalities in a Woman with Phakomatosis Pigmentovascularis Type V

Abstract

Corresponding author: Mei-Eng Tu, Department of Dermatology, Mackay Memorial Hospital, 92, Sec 2, Chung-Shan N Rd., Taipei, Taiwan, 10449. TEL: 886-2-25433535 FAX: 886-2-25343642 E-mail: tme@ms2.mmh.org.tw Funding source: none Confl ict of interest: none declared Received: March 19, 2009 Revised: April 03, 2009 Accepted: June 01, 2009 CASE REPORT A 28-year-old woman with extensive skin lesions since birth presented with the acute onset three months previously of slurred speech, diffi culty swallowing, numbness of her left face, and right-sided weakness. She had been quite well during the elementary school years, but in her early teens, she began stumbling and falling and her walking slowed. At the age of 21, she lost the vision in her left eye because of glaucoma. She denied a history of muscle pain, headache, dizziness, tinnitus, hearing impairment, seizures, or trauma. The family history was unremarkable. On physical examination, she had large gray-blue macules on the forehead, cheeks, left sclera, and back. There were extensive erythematous patches involving both sides of the face, mandible, neck, and abdomen (Fig. 1A, 1B). A large area of reticulated, mottled erythema was present on her trunk and limbs consistent with cutis marmorata telangiectatica congenital (CMTC) (Fig. 1C). A nevus anemicus was present on her abdomen (Fig. 1B). There was a vascular anomaly on her right buttock, the right leg was hypertrophied, and there was a foot deformity. An ophthalmologic examinat ion showed bilateral glaucoma and a left cataract. Neurological examination revealed intact mentation with dysphagia, dysarthria, a left central facial palsy, and decreased sensation on the left face. The right upper and lower extremities were slightly weak (muscle power 4/5), spastic in tone, and had increased deep tendon refl exes. A skin biopsy specimen from her left cheek demonstrated dermal dendritic melanocytic proliferation and dilated capillaries throughout the dermis (Fig. 2), diagnosed as concurrent nevus of Ota and nevus fl ammeus, consistent with Phakomatosis pigmentovascularis (PPV). A nerve conduction study, awake electroencephalography, electromyography, and x-rays of the chest and legs were all normal. Magnetic resonance imaging (MRI) and MR angiography of the brain revealed no leptomeningeal angioma or other abnormality.