Infantile systemic hyalinosis: Case report and review of the literature

Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypert...

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Published inJournal of the American Academy of Dermatology Vol. 58; no. 2; pp. 303 - 307
Main Authors Lindvall, Lisa E., MS, Kormeili, Tanya, MD, Chen, Elaine, BA, Ramirez, Maria Celeste M., PhD, Grum-Tokars, Valerie, PhD, Glucksman, Marc J., PhD, Martignetti, John A., MD, PhD, Zaragoza, Michael V., MD, PhD, Dyson, Senait W., MD
Format Journal Article
LanguageEnglish
Published New York, NY Mosby, Inc 01.02.2008
Elsevier
Subjects
Amino Acid Substitution
Biological and medical sciences
Contracture - genetics
Contracture - pathology
Dermatology
Diarrhea - pathology
Fatal Outcome
Female
General aspects
Humans
Infant
Joint Diseases - genetics
Joint Diseases - pathology
Medical sciences
Membrane Proteins - genetics
Muscular Diseases - genetics
Muscular Diseases - pathology
Receptors, Peptide
Skin Diseases - genetics
Skin Diseases - pathology
Human
Case study
Skin disease
Literature
Dermatology
Infant
Systemic
Child
Hyalinosis
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Abstract Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.
AbstractList Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.
Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.
Author Ramirez, Maria Celeste M., PhD
Chen, Elaine, BA
Glucksman, Marc J., PhD
Zaragoza, Michael V., MD, PhD
Lindvall, Lisa E., MS
Grum-Tokars, Valerie, PhD
Martignetti, John A., MD, PhD
Kormeili, Tanya, MD
Dyson, Senait W., MD
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  fullname: Zaragoza, Michael V., MD, PhD
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  fullname: Dyson, Senait W., MD
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Issue 2
Keywords Human
Case study
Skin disease
Literature
Dermatology
Infant
Systemic
Child
Hyalinosis
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Snippet Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically...
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SubjectTerms Amino Acid Substitution
Biological and medical sciences
Contracture - genetics
Contracture - pathology
Dermatology
Diarrhea - pathology
Fatal Outcome
Female
General aspects
Humans
Infant
Joint Diseases - genetics
Joint Diseases - pathology
Medical sciences
Membrane Proteins - genetics
Muscular Diseases - genetics
Muscular Diseases - pathology
Receptors, Peptide
Skin Diseases - genetics
Skin Diseases - pathology
Title Infantile systemic hyalinosis: Case report and review of the literature
URI https://www.clinicalkey.es/playcontent/1-s2.0-S0190962207010262
https://dx.doi.org/10.1016/j.jaad.2007.06.008
https://www.ncbi.nlm.nih.gov/pubmed/18222328
https://search.proquest.com/docview/70243243
Volume 58
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