WAARDENBURG-SYNDROME TYPE-II IN A TAIWANESE WOMAN WITH A FAMILY HISTORY OF PSEUDOXANTHOMA ELASTICUM

A 37-year-old Taiwanese woman presented to the Dermatology Clinic for a skin exam to rule out pseudoxanthoma elasticum (PXE). The patient st ated she had a known family history of PXE, with a 31-year-old brother with biopsy-proven cutaneous lesions of the lateral neck and another brother (33 years of age) with recently documented angioid streaks on ophthalmologic examination. The patient stated that two other living b rothers were without known cutaneous lesions and had refused ophthalmo logic examinations. A fifth brother had died in infancy of unknown cau ses. There was no other known family history of PXE, and neither of th e affected brothers had a known history of cardiovascular disease. The patient's past medical history was significant only for gestational d iabetes during pregnancy. She had no history of hypertension, angina, myocardial infarction, cerebrovascular accident, visual difficulty, bl eeding abnormality, or intermittent claudication. Physical examination was notable for multiple hypo-and depigmented macules and patches of the anterior trunk, face, and dorsal hands. There were no cutaneous fi ndings of PXE. Scalp examination revealed diffuse depigmentation of th e hair roots (Pig. 1), and the patient admitted to the regular use of hair dyes since experiencing premature graying at 22 years of age. Oph thalmologic exam revealed heterochromia iridis (Fig. 2). The Winder (s ee below) was calculated to be 1.65 (within normal limits). Fundoscopi c examination was normal. There was no history of hearing impairment. An expanded family history was performed after noting the patient's cl inical phenotype suggestive of Waardenburg syndrome, and revealed seve ral relatives with early graying, leukoderma, heterochromia iridis, an d congenital deafness (see pedigree, Fig. 3). All of the patient's rel atives lived in Taiwan, and therefore examinations were not possible.