Identification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System
Carregando...
Citações na Scopus
54
Tipo de produção
article
Data de publicação
2012
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY-BLACKWELL
Autores
DENADAI, Rafael
RAPOSO-AMARAL, Cassio E.
HART, Thomas
HAN, Sangwoo
STELINI, Rafael F.
BUZZO, Celso L.
RAPOSO-AMARAL, Cesar A.
Citação
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.158A, n.4, p.732-742, 2012
Resumo
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included. (C) 2012 Wiley Periodicals, Inc.
Palavras-chave
anthrax toxin receptor 2 protein, hyaline fibromatosis syndrome, infantile systemic hyalinosis, juvenile hyaline fibromatosis
Referências
- Antaya RJ, 2007, AM J DERMATOPATH, V29, P99, DOI 10.1097/01.dad.0000245636.39098.e5
- Brandao FV, 2009, AN BRAS DERMATOL, V84, P677
- Deuquet J, 2011, EMBO MOL MED, V3, P208, DOI 10.1002/emmm.201100124
- Dhingra Mandeep, 2008, Indian J Dermatol Venereol Leprol, V74, P371
- Dowling O, 2003, AM J HUM GENET, V73, P957, DOI 10.1086/378781
- El-Kamah GY, 2010, BRIT J DERMATOL, V163, P213, DOI 10.1111/j.1365-2133.2010.09769.x
- El-Maaytah M, 2010, J ORAL MAXIL SURG, V68, P2604, DOI 10.1016/j.joms.2009.09.060
- Felix TM, 2004, CLIN DYSMORPHOL, V13, P231
- GILABERTE Y, 1993, DERMATOLOGY, V187, P144
- Guldner K, 2009, HAUTARZT, V60, P740, DOI 10.1007/s00105-008-1698-5
- Hakki SS, 2005, J CLIN PERIODONTOL, V32, P1016, DOI 10.1111/j.1600-051X.2005.00760.x
- Hanks S, 2003, AM J HUM GENET, V73, P791, DOI 10.1086/378418
- Hatamochi A, 2007, BRIT J DERMATOL, V157, P1037, DOI 10.1111/j.1365-2133.2007.08147.x
- Huang YC, 2007, BRIT J DERMATOL, V156, P602, DOI 10.1111/j.1365-2133.2006.07701.x
- Lee JYY, 2005, CLIN EXP DERMATOL, V30, P176, DOI 10.1111/j.1365-2230.2004.01698.x
- Lim AAT, 2005, J ORAL MAXIL SURG, V63, P271, DOI 10.1016/j.joms.2004.06.055
- Lindvall LE, 2008, J AM ACAD DERMATOL, V58, P303, DOI 10.1016/j.jaad.2007.06.008
- Mallet S, 2010, ANN DERMATOL VENER, V137, P364, DOI 10.1016/j.annder.2010.02.019
- Mancini GMS, 1999, DERMATOLOGY, V198, P18, DOI 10.1159/000018058
- Mendonca JA, 2011, RHEUMATOL INT, V31, P1393, DOI 10.1007/s00296-010-1666-0
- Muniz ML, 2006, PEDIATR DERMATOL, V23, P458, DOI 10.1111/j.1525-1470.2006.00283.x
- Nofal A, 2009, J AM ACAD DERMATOL, V61, P695, DOI 10.1016/j.jaad.2009.01.039
- Park KT, 2010, CLIN EXP OTORHINOLAR, V3, P102, DOI 10.3342/ceo.2010.3.2.102
- QUINTAL D, 1985, ARCH DERMATOL, V121, P1062, DOI 10.1001/archderm.121.8.1062
- Rahman N, 2002, AM J HUM GENET, V71, P975, DOI 10.1086/342776
- Ribeiro SLE, 2009, ACTA REUMATOL PORT, V34, P128
- Shieh JTC, 2006, PEDIATRICS, V118, pE1485, DOI 10.1542/peds.2006-0824
- Slimani S, 2011, RHEUMATOL INT, V31, P273, DOI 10.1007/s00296-010-1583-2
- Urbina F, 2004, PEDIATR DERMATOL, V21, P154, DOI 10.1111/j.0736-8046.2004.21214.x
- WOYKE S, 1984, J PEDIATR SURG, V19, P302, DOI 10.1016/S0022-3468(84)80192-X