Abstract
Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2). Here we report a Saudi infant with infantile systemic hyalinosis who presented with intractable diarrhea, and we review the literature emphasizing recent developments in the molecular genetics of this disease.
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References
Al-Mayouf SM, Al Mehaidib A, Bahabri S, Shabib S, Sakati N, Teebi AS (2005) Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. Clin Exp Rheumatol 23:617–620
Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M (2007) Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. Am J Dermatopathol 29:99–103
Büyükgebiz B, Oztürk 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
Glover MT, Lake BD, Atherton DJ (1992) Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatr Dermatol 9:255–258
Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N (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
Huang YC, Xiao YY, Zheng YH, Jang W, Yang YL, Zhu XJ (2007) Infantile systemic hyalinosis: a case report and mutation analysis in a Chinese infant. Br J Dermatol 156:602–604
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
Lee JY, Tsai YM, Chao SC, Tu YF (2005) Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. Clin Exp Dermatol 30:176–179
Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP (1999) Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. Dermatology 198:18–25
Murray J (1873) On three peculiar cases of molluscum fibrosum in children. Med Chir Trans 38:235
Ruiz-Maldonado R, Durán-McKinster C, Sáez-de-Ocariz M, Calderón-Elvir C, Yamazaki-Nakashimada MA, Orozco-Covarrubias L (2006) Interferon alpha-2B in juvenile hyaline fibromatosis. Clin Exp Dermatol 31:478–479
Shin HT, Paller A, Hoganson G, Willner JP, Chang MW, Orlow SJ (2004) Infantile systemic hyalinosis. J Am Acad Dermatol 50(Suppl2):S61–S64
Urbina F, Sazunic I, Murray G (2004) Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Pediatric Dermatol 21:154–159
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Al-Mubarak, L., Al-Makadma, A. & Al-Khenaizan, S. Infantile systemic hyalinosis presenting as intractable infantile diarrhea. Eur J Pediatr 168, 363–365 (2009). https://doi.org/10.1007/s00431-008-0760-8
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DOI: https://doi.org/10.1007/s00431-008-0760-8