Waardenburg syndrome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum

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A 37-year-old Taiwanese woman presented to the Dermatology Clinic for a skin exam to rule out pseudoxanthoma elasticum (PXE). The patient stated 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 brothers were without known cutaneous lesions and had refused ophthalmologic examinations. A fifth brother had died in infancy of unknown causes. There was no other known family history of PXE, and neither of the affected brothers had a known history of cardiovascular disease.The patient's past medical history was significant only for gestational diabetes during pregnancy. She had no history of hypertension, angina, myocardial infarction, cerebrovascular accident, visual difficulty, bleeding 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 findings of PXE. Scalp examination revealed diffuse depigmentation of the hair roots (Fig. 1), and the patient admitted to the regular use of hair dyes since experiencing premature graying at 22 years of age. Ophthalmologic exam revealed heterochromia iridis (Fig. 2). The W index (see below) was calculated to be 1.65 (within normal limits). Fundoscopic examination was normal. There was no history of hearing impairment.An expanded family history was performed after noting the patient's clinical phenotype suggestive of Waardenburg syndrome, and revealed several relatives with early graying, leukoderma, heterochromia iridis, and congenital deafness (see pedigree, Fig. 3). All of the patient's relatives lived in Taiwan, and therefore examinations were not possible.

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