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

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Article › peer-review

31 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 (US)
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

ASJC Scopus subject areas

Dermatology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/s0190-9622(03)02798-1

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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.). ",

year = "2004",

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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.

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AN - SCOPUS:0842325800

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JO - Journal of the American Academy of Dermatology

JF - Journal of the American Academy of Dermatology

IS - 2 SUPPL.

ER -

Infantile systemic hyalinosis

Abstract

ASJC Scopus subject areas

UN SDGs

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