Infantile systemic hyalinosis: A clinicopathological study

American Journal of Medical Genetics

Volumn 129 A, Issue 3, 2004, Pages 282-285

  Rodríguez Criado, Germán ^a   González Meneses, Antonio ^a   Cañadas, Manuela ^a   Rafel, Enrique ^a   Yanes, Francisco ^a   Gómez De Terreros, Ignacio ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

Connective tissues; Infantile systemic hyalinosis; Osteopenia; Painful and swollen joints; Perianal nodules

Indexed keywords

COLLAGEN;

ARTHRALGIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONNECTIVE TISSUE DISEASE; DEATH; DIARRHEA; EXTRACELLULAR MATRIX; FAILURE TO THRIVE; FEMALE; FIBROMATOSIS; HISTOPATHOLOGY; HUMAN; INFANTILE SYSTEMIC HYALINOSIS; PAPULE; PRIORITY JOURNAL; RECURRENT INFECTION; RETROSPECTIVE STUDY; SKIN DISEASE; SYMPTOMATOLOGY;

COLLAGEN DISEASES; EXTRACELLULAR MATRIX; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; HYALIN; INFANT, NEWBORN; SKIN DISEASES;

EID: 4444276836     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30117     Document Type: Article

References (16)

1. Bedford CD, Sills JA, Sommelet Olive D, Boman F, Beltramo F, Cornu G. 1991. Juvenile hyaline fibromatosis: A report of two severe cases. J Pediatr 119:404-410.
2. Breier F, Fang-Kircher S, Wolff K, Jurecka W. 1997. Juvenile hyaline fibromatosis: Impaired collagen metabolism in human skin fibroblast. Arch Dis Child 77:436-440.
3. Gilaberte Y, González-Medeiro I, López-Barrantes V, Zambrano A. 1995. Juvenile hyaline fibromatosis with skull-encephalic anomalies: A case report and review of the literature. Dermatology 187:144-148.
4. Glover MT, Lake BD, Atherton DJ. 1991. Infantile systemic hyalinosis: Newly recognized disorder of collagen? Pediatrics 87:228-234.
5. Glover MT, Lake BD, Atherton DJ. 1992. Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatr Dermatol 9:255-258.
6. Huntchinson I. 1996. Juvenile systemic hyalinosis - A rare cause of gingival hypertrophy: A case report. Int J Pediatric Dentistry 6:39-43.
7. Kan AE, Rogers M. 1989. Juvenile hyaline fibromatosis: An expanded clinicopathologic spectrum. Pediatr Dermatol 6:68-75.
8. Katagiri K, Takasaki S, Fujiwara S, Kayashina K, Ono T, Shinkai H. 1996. Purification and structural analysis of extracellular matrix of a skin tumor from a patient with juvenile hyaline fibromatosis. Dermatol Sci 13:37-48.
9. Landing BH, Nadorra R. 1986. Infantile systemic hyalinosis: Report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol 6:55-97.
10. Lubec B, Stinert I, Breier F, Jurecka W, Pillwein K, Fang-Kircher S. 1995. Skin collagen defects in a patient with juvenile hyaline fibromatosis. Arch Dis Child 73:246-248.
11. Mancini GMS, Stojanov L, Willemsem R, Kleijer WJ, Huimans JGM, Diggelen OP, Klerk JBL, Vuzevski VD, Oranje AP. 1999. Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients. Dermatology 198:18-25.
12. Nezelof C, Letourneux-Toromanoff B, Griscelli C, Girot R, Saudubray J-M, Mozziconacci P. 1978. La fibromatose disséminée douloureuse (hyalinose systémique). Arch Franq Pédiatr 35:1063-1074.
13. Sahn EE, Salinas CF, Sens MA, Key J, Swiger FK, Holbrook KA. 1994. Infantile systemic hyalinosis in a black infant. Pediatr Dermatol 11:52-60.
14. Shehab ZP, Raafat F, Proops DW. 1995. Juvenile hyaline fibromatosis. Int J Pediatr Otorhinolaryngol 33:179-186.
15. Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A. 2001. Infantile systemic hyalinosis in siblings: Clinical report, biochemical, and ultrastructural findings, and review of the literature. Am J Med Genet 100:122-129.
16. Winik BC, Boente MC, Asial R. 1998. Juvenile hyaline fibromatosis: Ultrastructural study. Am J Dermatopathol 20:373-378.