Infantile systemic hyalinosis - 24/08/11
Doi : 10.1016/S0190-9622(03)02798-1
Helen T Shin, MD a, b, ⁎ 
, Amy Paller, MD c, George Hoganson, MD d, Judith P Willner, MD e, Mary Wu Chang, MD a, b, Seth J Orlow, MD, PhD a, b
, Amy Paller, MD c, George Hoganson, MD d, Judith P Willner, MD e, Mary Wu Chang, MD a, b, Seth J Orlow, MD, PhD a, b a Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York, USA,
b Department of Pediatrics, New York University School of Medicine, New York, New York, USA
c Departments of Pediatrics and Dermatology, Children's Memorial Hospital, Northwestern University Medical School, Chicago, Illinois, USA
d Departments of Pediatrics and Genetics, University of Illinois, Chicago, Illinois, USA
e Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
*Reprint requests: Helen T. Shin, MD, Ronald O. Perelman Department of Dermatology, New York University School of Medicine, 560 First Ave, H-100, New York, NY 10016, USA
Abstract |
Infantile systemic hyaloinosis is a rare, progressive, and fatal disease that is inherited in an autosomal recessive fashion. We describe 2 patients in whom thickened skin; small nodules of the perianal region, face, and neck; joint contractures; growth failure; diarrhea; and frequent infections developed within the first few weeks of life. Both patients died before 2 years of age.
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 | This supplement is made possible through an unrestricted educational grant from Stiefel Laboratories to the American Academy of Dermatology. Supported by the Herzog Foundation (to H.T.S.). Conflicts of interests: None identified. |
© 2004
American Academy of Dermatology, Inc.. Pubblicato da Elsevier Masson SAS. Tutti i diritti riservati.
Vol 50 - N° 2S
P. 61-64 - febbraio 2004 Ritorno al numero
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