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  • Title: Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?
    Author: Pivnick EK, Wilroy RS, Martens PR, Teather TC, Hashimoto K.
    Journal: Am J Med Genet; 1996 Apr 24; 62(4):386-90. PubMed ID: 8723069.
    Abstract:
    We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn areas of his face, and hyperpigmented streaks are seen on arms and legs. Biopsy of the hyperpigmented' skin showed many separate bundles of smooth muscles in the dermis. No relative had hypertrichosis or other birth defects. To our knowledge, the syndrome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously.
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