Abstract
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscle and endocrine glands. The clinical features are evident either at birth or within 6 months of life. The disease is manifested by painful progressive joint contractures, thick skin with hyperpigmentation, susceptibility to bone fractures, infections, failure to thrive and persistent diarrhea due to protein-losing enteropathy. Here, we report three unrelated Iranian children with a limited range of joint movements in the first month of life, skin hyperpigmentation and painful joint contractures. Pathological findings also confirmed the diagnosis of ISH in these patients.
References
Felix TM, Puga AC, Cestari T, Cartell A, Cerski M (2004) Infantile systemic hyalinosis: report of three unrelated Brazilian children and review of the literature. Clin Dysmorphol 13:231–236
Nezelof C, Letourneux-Toromanoff B, Griscelli C, Girot R, Saudubray JM, Mozziconacci P (1978) Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia. Arch Fr Pediatr 35:1063–1074
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 6:55–79
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
Glover MT, Lake BD, Atherton OJ (1991) Infantile systemic hyalinosis: newly recognized disorder of collagen? Pediatrics 87:228–234
Sahn EE, Salinas CF, Sens MA, Key J, Swiger FK Jr, Holbrook KA (1994) Infantile systemic hyalinosis in a black infant. Pediatr Dermatol 11:52–60
Glover MT, Lake BD, Atherton DJ (1992) Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatr Dermatol 9:255–258
Rahman N, Dunstan M, Teare MD et al (2002) The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Genet 71:975–980
Hanks S, Adams S, Douglas J et al (2003) Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 73:791–800
Bell SE, Mavila A, Salazar R, Bayless KT, Kanagala S, Maxwell SA, Davis GE (2001) Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. J Cell Sci 114:2755–2773
Bosman FT, Stamenkovic I (2003) Functional structure and composition of the extracellular matrix. J Pathol 200:423–428
Parfitt AM (1996) Familial neonatal hypoproteinemia with exudative enteropathy and intestinal lymphangiectasia. Arch Dis Child 41:54–62
Buyukgebiz B, Ozturk Y, Arslan N, Ozer E (2003) A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis. Turk J Pediatr 45:258–260
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
Kan AE, Rogers M (1989) Juvenile hyaline fibromatosis: an expanded clinicopathologic spectrum. Pediatr Dermatol 6:68–75
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Aghighi, Y., Bahremand, S. & Nematollahi, L.R. Infantile systemic hyalinosis: report of three Iranian children and review of the literature. Clin Rheumatol 26, 128–130 (2007). https://doi.org/10.1007/s10067-005-0124-y
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DOI: https://doi.org/10.1007/s10067-005-0124-y