Enamel–renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child

Syndromes with gingival fibromatosis: A systematic review

“…The extent of GF was observed to be generalized in 77 studies, localized in six articles (Chacon‐Camacho, Vázquez, & Zenteno, 2011; Chadwick, Hunter, Hunter, Aldred, & Wilkie, 1994; Giansanti, McKenzie, & Owens, 1973; Goodwin et al., 2014; Hallett, Bankier, Chow, Bateman, & Hall, 1995; Ishita, Sujatha, Pramod, & Ashok, 2016), and not determined in one study (Pachajoa, López‐Quintero, Vanegas, Montoya, & Ramírez‐Montaño, 2018). The degree of severity was also assessed, with 15 studies reporting mild fibromatosis (Abo‐Dalo et al., 2008; Afifi et al., 2015; Ashkenazi, Rafe, Sarnat, & Levin, 2014; Debnath et al., 2019; Dourado et al., 2019; Feitosa et al., 2011; Giansanti et al., 1973; Goodwin et al., 2014; Hartsfield, Bixler, Hazen, Opitz, & Reynolds, 1985; Holzhausen et al., 2003; Landoulsi et al., 2012; Laouina & Zupan, 2017; Mangino et al., 2003; Martelli‐Júnior et al., 2008; O’Connell, Davies, Smallridge, & Vaidyanathan, 2014), 25 studies reporting moderate fibromatosis (Afifi, Abdel‐Hamid, Eid, Mostafa, & Abdel‐Salam, 2016; Bhesania, Arora, & Kapoor, 2015; Castori et al., 2013; Jaouad et al., 2015; Cho et al., 2012; Goldblatt & Singer, 1992; Kaisare, 2007; Kang, Lee, Jeon, Song, & Kim, 2018; Kantaputra et al., 2017; Kissi, Benyahya, & Rifki, 2006; Lee, Im, & Kim, 1993; Lin, Wang, Sun, & Huang, 2010; Martins, Ortega, Hiraoka, Ricardo, & Magalhaes, 2010; Mégarbané et al, 2016; Molano, Blank, Tamayo, & Isaza, 1996; Oikarinen, Salo, Ka, Lahtela, & Altonen, 1990; Paula, Melo, Guerra, Mestrinho, & Acevedo, 2005; Pêgo et al., 2017; Poulter et al., 2015; Prasad, Radharani, Sinha, & Kumar, 2012; Singer, Goldblatt, Hallam, & Winters, 1993; Torres et al., 2018; de la Tranchade, Bonarek, Marteau, Boileau, & Nancy,…”

Case report: Enamel renal syndrome: a case series from sub-Saharan Africa

“…There is uncertainty about whether nephrocalcinosis develops with increasing age since some reports have identified nephrocalcinosis in very young patients ( 10 , 14 , 30 – 33 ), including patients as young as six years old ( 14 , 30 ). In 2012, Jaureguiberry et al ( 6 ) investigated 25 patients from 16 families with the ERS oral profile and nephrocalcinosis and speculated that all individuals with biallelic FAM20A mutations would eventually show nephrocalcinosis; however, several authors failed to identify any renal involvement in patients presenting with the typical oral profile of ERS ( 8 , 15 , 17 , 18 , 34 ). There has also been no observed correlation between sex and the severity of the phenotype, with both males and females showing equivalent case numbers ( 28 ), but there has been no comparison of severity.…”

“…Intrapulpal calcifications, delayed tooth eruption, hypoplastic enamel, and misshapen teeth with short, dilacerated roots were present (Figures 2G,H). Enlarged dental follicles of teeth 18,17,15,13,23,27,28,38,37,35,44,45,47 and 48 were noted. The frontal sinuses were pneumatised (Figure 2E), and severe thinning of the lower and upper anterior alveolar ridge was also noted (Figure 2F).…”

“…Similarly, the prevalence of nephrocalcinosis in patients with ERS is unknown. Nephrocalcinosis has been reported in several studies (1,6,(9)(10)(11)(12)(13)(14); however, others have failed to identify renal involvement (8,(15)(16)(17)(18). The renal phenotype, typically silent during childhood, is characterised by reduced calcium, phosphate, and citrate excretion with subsequent nephrocalcinosis (4).…”