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JAMA Clinical Challenge
August 17, 2011

Skin Fragility and Blister Formation

Author Affiliations
 

JAMA Clinical Challenge Section Editor: Huan J. Chang, MD, Contributing Editor. We encourage authors to submit papers for consideration as a JAMA Clinical Challenge. Please contact Dr Chang at tina.chang@jama-archives.org

Author Affiliation: Dr Chang (tina.chang@jama-archives.org) is Contributing Editor, JAMA.

JAMA. 2011;306(7):767-768. doi:10.1001/jama.2011.1135

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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