Systemic hyalinosis: A distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)

Pediatrics

Volumn 118, Issue 5, 2006, Pages

  Shieh, Joseph T C ^a   Swidler, Petra ^b   Martignetti, John A ^c   Ramirez, Maria Celeste M ^c   Balboni, Imelda ^a   Kaplan, Julie ^b   Kennedy, Jeanette ^a   Abdul Rahman, Omar ^a   Enns, Gregory M ^a   Sandborg, Christy ^a   Slavotinek, Anne ^b   Hoyme, H Eugene ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Anthrax toxin receptor 2 gene; Chronic pain; Fibromatosis; Genetic testing; Gingival hypertrophy; Hyalinosis; Progressive childhood contractures

Indexed keywords

ANTIBIOTIC AGENT; GABAPENTIN; NONSTEROID ANTIINFLAMMATORY AGENT; OPIATE; PENICILLAMINE; ANTXR2 PROTEIN, HUMAN; HYALIN; MEMBRANE PROTEIN;

ANAMNESIS; ANTRX2 GENE; ARTICLE; CASE REPORT; CHILDHOOD DISEASE; CHRONIC DIARRHEA; CHRONIC PAIN; CLINICAL FEATURE; CONTRACTURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISEASE SEVERITY; EDEMA; FACE TUMOR; FEMALE; FIBROMATOSIS; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; NEWBORN; NEWBORN SCREENING; PAPULE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; RECEPTOR GENE; RESPIRATORY TRACT INFECTION; SURVIVAL; TREATMENT FAILURE; TREATMENT OUTCOME; GENETICS; INFANT; MUTATION; ONSET AGE;

AGE OF ONSET; FEMALE; HUMANS; HYALIN; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE;

EID: 33750933539     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-0824     Document Type: Article

References (13)

1. Bedford CD, Sills JA, Sommelet-Olive D, Boman F, Beltramo F, Cornu G. Juvenile hyaline fibromatosis: a report of two severe cases. J Pediatr. 1991;119:404-410
2. Kitano Y, Horiki M, Aoki T, Sagami S. Two cases of juvenile hyalin fibromatosis: some histological, electron microscopic, and tissue culture observations. Arch Dermatol. 1972;106:877-883
3. Levkoff AH, Gonzalez CG, Neher JL. Congenital diffuse fibromatosis: a case report. Pediatrics. 1965;35:331-333
4. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144:S3-S14
5. Dowling O, Difeo A, Ramirez MC, et al. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003;73:957-966
6. Hanks S, Adams S, Douglas J, et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003;73:791-800
7. Scobie HM, Rainey GJ, Bradley KA, Young JA. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. Proc Natl Acad Sci U S A. 2003;100:5170-5174
8. Glover MT, Lake BD, Atherton DJ. Infantile systemic hyalinosis: newly recognized disorder of collagen? Pediatrics. 1991;87:228-234
9. Landing BH, Nadorra R. Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol. 1986;6:55-79
10. Stucki U, Spycher MA, Eich G, et al. Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet. 2001;100:122-129
11. Criado GR, Gonzalez-Meneses A, Canadas M, Rafel E, Yanes F, De Terreros IG. Infantile systemic hyalinosis: a clinicopathological study. Am J Med Genet A. 2004;129:282-285
12. Felix TM, Puga AC, Cestari T, Cartell A, Cerski M. Infantile systemic hyalinosis: report of 3 unrelated Brazilian children and review of the literature. Clin Dysmorphol. 2004;13:231-236
13. Shin HT, Paller A, Hoganson G, Willner JP, Chang MW, Orlow SJ. Infantile systemic hyalinosis. J Am Acad Dermatol. 2004;50:S61-S64