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Picture of the Month
Karen K. Winer, MD;
Deborah P. Merke, MD
From the Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Md.
Arch Pediatr Adolesc Med. 2000;154:745-746.
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A 10-YEAR-OLD boy with a history of a hypocalcemic seizure at age 2 years had a 3-month history of fatigue, nausea, and weight loss. He has received calcitriol and calcium supplementation since his seizure. Depigmented patches around both eyes were noted on physical examination (Figure 1). Dental enamel hypoplasia (Figure 2), nail pitting (Figure 3), and generalized hyperpigmentation of the skin were also found.
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Figure 1.
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Figure 2.
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Figure 3.
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Denouement and Discussion: Autoimmune Polyglandular Syndrome Type 1
Figure 1. Patches of vitiligo are present in the inner canthal areas bilaterally. Generalized hyperpigmentation of the skin makes these areas more prominent.
Figure 2. The mottled appearance of the teeth reflects enamel hypoplasia.
Figure 3. The nails show signs of dystrophy, vertical ridging, and pitting.
Autoimmune polyglandular syndrome type 1 (APS-1), also known as polyendocrinopathy-candidiasis-ectodermal dystrophy, is an autosomal recessive disorder characterized . . . [Full Text of this Article]
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