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JAMA Clinical Challenge |

Skin Fragility and Blister Formation

Huan J. Chang, MD, MPH
JAMA. 2011;306(7):767-768. doi:10.1001/jama.2011.1135.
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A 3-year-old girl native of the tribe Ngöbe-Buglé (Panama) was referred for evaluation of a history of skin fragility and blister formation since adoption 2 years earlier. The child's adoptive parents were unaware of the patient's or her family's medical history. Lesions were mainly located in sites of trauma and rapidly evolved to form crusts, ultimately leaving some pigmentary changes. Skin examination revealed erosions and crusts over the face and fingers. There was dyspigmentation with hyperpigmented and hypopigmented macules on both sun-exposed and non–sun-exposed areas. The skin was atrophic, with cigarette-paper–like wrinkling, especially over the dorsa of the hands and feet (Figure 1). Mild proximal syndactyly was present between the middle and ring fingers (Figure 2). There were no milia (Figure 3). Nails, gingiva, and mucous membranes were normal.

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Figure 1. Close-up of the feet demonstrates cigarette-paper–like wrinkling (figure reprinted from Arch Pediatr Adolesc Med. 2010;164[9]:875-8761).
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Figure 2. Interdigital webbing of the fingers. There also were healing blisters and crusts over the dorsum of the hand (figure reprinted from Arch Pediatr Adolesc Med. 2010;164[9]:875-8761).
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Figure 3. Pigmentary changes over the legs (figure reprinted from Arch Pediatr Adolesc Med. 2010;164[9]:875-8761).
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