TY - JOUR
T1 - Infantile systemic hyalinosis
T2 - Case report and review of the literature
AU - Lindvall, Lisa E.
AU - Kormeili, Tanya
AU - Chen, Elaine
AU - Ramirez, Maria Celeste M
AU - Grum-Tokars, Valerie
AU - Glucksman, Marc J.
AU - Martignetti, John A.
AU - Zaragoza, Michael V.
AU - Dyson, Senait W.
PY - 2008/2/1
Y1 - 2008/2/1
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jaad.2007.06.008
DO - 10.1016/j.jaad.2007.06.008
M3 - Review article
C2 - 18222328
AN - SCOPUS:38349108158
SN - 0190-9622
VL - 58
SP - 303
EP - 307
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 2
ER -
