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Journal of the American Academy of Dermatology
Volume 62, n° 6
pages 1031-1034 (juin 2010)
Doi : 10.1016/j.jaad.2009.12.038
Dermatology Grand Rounds at the NIH

An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease
 

Jeffrey J. Kelly, DO a, Alexandra F. Freeman, MD b, Heng Wang, MD, PhD c, Edward W. Cowen, MD, MHSc d, Heidi H. Kong, MD d,
a Department of Dermatology, Walter Reed Army Medical Center, Washington, District of Columbia 
b Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 
c DDC Clinic for Special Needs Children, Middlefield, Ohio 
d Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 

Correspondence to: Heidi H. Kong, MD, Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bldg 10/Room 12N238, 10 Center Dr, MSC 1908, Bethesda, MD 20892-1908.

Key words : chronic lung disease, immunodeficiency, leg ulcers, prolidase deficiency, skin, telangiectasia, ulcers

Abbreviations used : HIES, NIH, PEPD



 Supported by the Intramural Program of the National Institutes of Health, Center for Cancer Research, National Cancer Institute, and the National Institute of Allergy and Infectious Diseases.
 Conflicts of interest: None declared.
 Reprints not available from the authors.

  The nonsense mutation of PEPD in this Amish patient with prolidase deficiency and his kindred was previously reported by Wang et al.8


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