Abstract
A female newborn presented with erythematous papules and nodule together with gum hyperplasia and knee contracture. The distinctive clinical presentation, along with the characteristic histological, radiological and molecular findings confirmed the diagnosis of a rare autosomal recessive mesenchymal disorder.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Bibliography
Albishri J. Arthropathy and proteinuria: nail-patella syndrome revisited. Ger Med Sci. 2014;12:Doc16.
Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M. Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. Am J Dermatopathol. 2007;29(1):99–103.
Aparicio-RodrÃguez JM, Hurtado-Hernández ML, Margarita B-P, Sergio C-M. Juvenile hyaline fibromatosis is an autosomal recessive genetic disease, four case reports. J Asian Sci Res. 2013;3(8):810–82.
Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005;13(8):935–46.
Dai JX, Johnson RL, Ding YQ. Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. Develop Growth Differ. 2009;51(3):241–50.
Elston DM, Peters J, Morrison WB. What is your diagnosis? Nail-patella syndrome. Cutis. 2000. 66(1):71, 75–6.
Granata A, Nori G, Ravazzolo R, et al. Nail-patella syndrome and renal involvement. Description of three cases and literature review. Clin Nephrol. 2008;69(5):377–82.
Gupta LK, Singhi MK, Bansal M, Khullar R, Jain V, Kachhawa D. Juvenile hyaline fibromatosis in siblings. Indian J Dermatol Venereol Leprol. 2005;71:115–8.
Haleem A, Al-Hindi HN, Juboury MA, Husseini HA, Ajlan AA. Juvenile hyaline fibromatosis: morphologic, immunohistochemical and ultrastructural study of three siblings. Am J Dermatopathol. 2002;24:218–24.
Katagiri K, Takasaki S, Fujiwara S, Kayashima K, Ono T, Shinkai H. Purifaction and structural analysis of extracellular matrix of a skin tumor from a patient with juvenile hyaline fibromatosis. J Dermatol Sci. 1996;13:37–48.
Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, et al. Clinico-genetic study of nail-patella syndrome. J Korean Med Sci. 2009. Suppl;24:S82–6.
Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, et al. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med. 2010;12(7):431–9.
McIntosh I, Dunston JA, Liu L, Hoover-Fong JE, Sweeney E. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005;69(Pt 4):349–63.
Nischal KC, Sachdev D, Kharkar V, Mahajan S. Juvenile hyaline fibromatosis. J Postgrad Med. 2004;50:125–6.
Quintal D, Jackson R. Juvenile hyaline fibromatosis: a 15-year follow-up. Arch Dermatol. 1985;121:1062–3.
Ribeiro SL, Guedes EL, Botan V, Barbosa A, Freitas EJ. Juvenile hyaline fibromatosis: a case report and review of literature. Acta Reumatol Port. 2009;34(1):128–33.
Romero P, Sanhueza F, Lopez P, Reyes L, Herrera L. c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. Mol Vis. 2011;17:1929–39.
Sanzalin H, Kiyozuka Y, Uemura Y, Shikata N, Ueda S, Tsubura A. Juvenile hyaline fibromatosis: a report of two unrelated adult sibling cases and a literature review. Pathol Int. 1998;48:230–6.
Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40(3):153–62.
Weiss SW, Goldblum JR. Fibrous tumors of infancy and childhood. In: Strauss M, editor. Enzinger and Weiss’s soft tisssue tumors. 4th ed. St. Louis: Mosby; 2001. p. 363–7.
Woyke S, Domagala W, Markiewicz D. A 19-year follow-up of multiple juvenile fibromatosis. J Pediatr Surg. 1984;19:302–4.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
El-Darouti, M.A., Al-Ali, F.M. (2019). Gingival Hyperplasia and Absent Patella. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_38
Download citation
DOI: https://doi.org/10.1007/978-3-030-21855-3_38
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21854-6
Online ISBN: 978-3-030-21855-3
eBook Packages: MedicineMedicine (R0)