Infantile systemic hyalinosis

Helen T. Shin; Amy Paller; George Hoganson; Judith P. Willner; Mary Wu Chang; Seth J. Orlow

doi:10.1016/s0190-9622(03)02798-1

Infantile systemic hyalinosis

Helen T. Shin, Amy Paller, George Hoganson, Judith P. Willner, Mary Wu Chang, Seth J. Orlow

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38 Scopus citations

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.

Original language	English
Pages (from-to)	61-64
Number of pages	4
Journal	Journal of the American Academy of Dermatology
Volume	50
Issue number	2 SUPPL.
DOIs	https://doi.org/10.1016/s0190-9622(03)02798-1
State	Published - Feb 2004

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title = "Infantile systemic hyalinosis",

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.",

author = "Shin, \{Helen T.\} and Amy Paller and George Hoganson and Willner, \{Judith P.\} and Chang, \{Mary Wu\} and Orlow, \{Seth J.\}",

note = "Funding Information: This supplement is made possible through an unrestricted educational grant from Stiefel Laboratories to the American Academy of Dermatology. Funding Information: Supported by the Herzog Foundation (to H.T.S.). ",

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T1 - Infantile systemic hyalinosis

AU - Shin, Helen T.

AU - Paller, Amy

AU - Hoganson, George

AU - Willner, Judith P.

AU - Chang, Mary Wu

AU - Orlow, Seth J.

N1 - Funding Information: This supplement is made possible through an unrestricted educational grant from Stiefel Laboratories to the American Academy of Dermatology. Funding Information: Supported by the Herzog Foundation (to H.T.S.).

PY - 2004/2

Y1 - 2004/2

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0842325800

U2 - 10.1016/s0190-9622(03)02798-1

DO - 10.1016/s0190-9622(03)02798-1

M3 - Article

C2 - 14726869

AN - SCOPUS:0842325800

SN - 0190-9622

VL - 50

SP - 61

EP - 64

JO - Journal of the American Academy of Dermatology

JF - Journal of the American Academy of Dermatology

IS - 2 SUPPL.

ER -

Infantile systemic hyalinosis

Abstract

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