Growth hormone deficiency in Costello syndrome

Legault, Laurent; Daneman, Denis; Weksberg, Rosanna; Hamilton, Jill

doi:10.1002/ajmg.a.30187

Cited by 35 publications

(26 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As best evidenced in the above‐mentioned cases reports, cutaneous features in patients with Costello syndrome can best be described by the dermatology community as follows: thick loose skin on the dorsal aspects of hands and feet, deep palmar/plantar creases with or without hyperlinearity, curly (but not sparse or fine) hair, focal hyperkeratoses on the extremities and particularly on the hands and feet, acanthosis nigricans (but not diffuse hyperpigmentation), deep‐set and hypoplastic nails, and perinasal and perianal papillomas. The papillomas may also be present around the eyes, mouth, axilla, knee, elbow, and abdomen 4,18 …”

Section: Discussionmentioning

confidence: 99%

Cutaneous manifestations of Costello syndrome

et al. 2007

View full text Add to dashboard Cite

Cutaneous findings are common in Costello syndrome, but have not been extensively reviewed in the dermatology literature. We present the cutaneous and histopathologic findings from two cases of Costello syndrome and review previously described cutaneous features of this syndrome. Both patients had manifestations of Costello syndrome with thick, lax skin on the dorsal aspects of hands and feet, deep palmar and plantar creases, curly hair, hyperkeratoses, acanthosis nigricans, papillomas, and multiple pigmented lesions. One patient had multiple syringomas on the forearms, a finding not previously reported. Pigmented lesions have previously been reported as nevi in the literature though no biopsies have been reported. We conclude that thick, loose skin on the dorsal aspects of hands and feet and deep palmar and plantar creases are cardinal manifestations of Costello syndrome and benign tumors of ectodermal origin such as papillomas, calcified epitheliomas, dermoid cysts, mammary fibroadenosis, and syringomas are important features of this syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

Cutaneous manifestations of Costello syndrome

et al. 2007

View full text Add to dashboard Cite

show abstract

“… 1 Costello et al ., 1977 and Costello et al ., 1996; Der Kaloustian et al ., 1991; Martin and Jones, 1991; Borochowitz et al ., 1992; Teebi et al ., 1993; DiRocco et al ., 1993; Izumikawa et al .,1993; Kondo et al .,1993; Patton et al ., 1993; Phillip and Mancini, 1993; Zampino et al ., 1993; Say et al ., 1993; Yoshida et al ., 1993; Davies et al ., 1994; Okamoto et al ., 1994; Fryns et al ., 1994; Torres et al, 1994; Umans et al ., 1994; Torrelo et al, 1995; Mori et al ., 1996; Fukao et al ., 1996; Johnson et al ., 1998; Pratesi et al ., 1998; Tomita et al, 1998; Siwik et al ., 1998; Franceshini et al, 1999; Szalai et al , 1999; van Eeghen et al, 1999; Bisogno et al ., 1999; Innes and Chudley, 2000; Moroni et al ., 2000; Sigaudy et al ., 2000; Hatamochi et al ., 2000; Boente et al, 2001; Gripp et al, 2002; Kaji et al ., 2002; Kamoda et al ., 2002; van den Bosch et al ., 2002; Urakami et al ., 2002; Kawame et al, 2003; Delrue et al, 2003; Mancini et al ., 2003; DiRocco et al ., 2003; Nasca et al, 2003; Cakir et al ., 2004; Waldburg et al ., 2004; Dickson et al, 2004; Gregersen et al ., 2004; Stein et al, 04; Hinek et al, 2005; Alexander et al ., 2005; White et al ., 2005. 2 Lin et al ., 2008 represented the compilation of Gripp et al ., 2006 and Estep et al, 2006; Kerr et al ., 2006; Steens et al, 2006; Zampino et al, 2006; Digilio et al ., 2007; Limongelli et al ., 2007; Denayer et al ., 2007; Lo et al ., 2008; Hou et al ., 2008; Gripp et al, 2008. 3 Case reports in the literature who were later included in extensive reviews were generally reported only in Group II, e.g. patients 1 and 3 in Zampino et al , 1993 were also patients CS-01 and CS-04 in Zampino et al, 2006).…”

Section: Figurementioning

confidence: 99%

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

et al. 2009

View full text Add to dashboard Cite

Objective Delineate prenatal features of Costello syndrome (caused by HRAS mutations) which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition. Methods Literature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in natural history study, plus three contributed cases). Results Polyhydramnios occurred in most (mean 79%) pregnancies of cases in Groups I (98), II (107), and III (17), advanced paternal age and prematurity were noted in approximately half. Less frequent were nuchal thickening, ascites, shortened long bones, abnormal hand posture, ventriculomegaly, macrosomia, and macrocephaly. Fetal arrhythmia occurred in 9 cases (6 supraventricular or unspecified tachycardia, 1 unspecified arrhythmia, 2 premature atrial contractions, PACs); excluding 3 new cases and 2 with PACs, the estimated prenatal frequency is 4/222 (2%). Conclusion Costello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia. Consideration should be given for timely prenatal diagnostic studies for confirmative HRAS gene mutations, and for maternal treatment of serious fetal arrhythmia.

show abstract

“…Each of these physical traumas can lead to inadequate GH production from the hypothalamus or the pituitary gland. Tumors may also cause insufficient secretion of one or more hormones and lead to GHD (Bogarin and Steinbok 2009;Stein et al 2004).…”

Section: Introductionmentioning

confidence: 99%

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients

Chen

et al. 2011

Hum Genet

View full text Add to dashboard Cite

Growth hormone deficiency (GHD) patients have lower weight, height, bone age, insulin-like growth factor 1 (IGF-1) levels, GH levels, fat metabolism and skeletal growth. The association of leptin with GHD characteristics and the effect of gene variants of leptin on GHD are unknown. Our aim was to examine the association of circulating leptin levels and common genetic variants in leptin (LEP) and leptin receptor (LEPR) genes with anthropometric measures, circulating hormone concentrations and GHD. A case control study of 125 GHD cases and 159 control subjects were characterized for bone age, body mass index (BMI), height, weight, leptin, IGF-1, GH and their genotype at the leptin promoter G-2548A, and LEPR variants, K109R and Q223R, at Chung Shan Medical University Hospital. Leptin levels were significantly associated with lower bone age, weight and BMI in GHD patients. Leptin levels were also significantly associated with reduced IGF-1 levels in girls but not boys in both groups. The frequency of LEPR223 [A/G or A/A] genotype was significantly higher than the LEPR223 G/G genotype in the GHD group. The LEPR223 [A/G or A/A] genotype was significantly associated with increased weight and BMI in the control group, but not in the GHD group. In conclusion, the GHD group carried a significantly higher frequency of the LEPR [G/A or A/A] genotype and of the A allele (LEPR223R). The LEPR223R polymorphism affected weight and BMI in control, but not in GHD patients, suggesting that the effect of LEPR223 [A/G or A/A] genotype was counteracted by other factor(s) in GHD patients.

show abstract

Growth hormone deficiency in Costello syndrome

Cited by 35 publications

References 29 publications

Cutaneous manifestations of Costello syndrome

Cutaneous manifestations of Costello syndrome

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients

Contact Info

Product

Resources

About