Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients

Ríos-González, Blanca Estela; Rodríguez-Ortiz, Jessica F.; Castro-Martínez, Anna Gabriela; Magaña-Torres, María Teresa; Barros‐Núñez, Patricio

doi:10.1097/mcd.0000000000000405

Cited by 2 publications

(1 citation statement)

References 15 publications

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“…Chest wall anomalies, such as pectus excavatum and/or carinatum combined with a broad thorax is distinctive in NS (up to 95%) ( 23 , 24 ). Similarly, the above pectus abnormalities are common both in CFC and CS and have been reported in up to two-thirds of affected individuals ( 25 , 50 , 96 ). Scoliosis/kyphosis are other universal manifestations reported roughly in 15% of NS ( 86 , 87 , 97 ), 20-35% of CFC and from 17% to more than half of CS individuals ( 36 , 77 , 98 ).…”

Section: Musculoskeletal Features and Biochemical Bone Profilementioning

confidence: 88%

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Papadopoulou,

Bountouvi

2023

Front. Endocrinol.

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Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these entities as they are presented with overlapping clinical features which, sometimes, become more pronounced with age. Distinctive face, cardiac and skeletal defects are among the primary abnormalities seen in these patients. Skeletal dysmorphisms range from mild to severe and may include anterior chest wall anomalies, scoliosis, kyphosis, short stature, hand anomalies, muscle weakness, osteopenia or/and osteoporosis. Patients usually have increased serum concentrations of bone resorption markers, while markers of bone formation are within normal range. The causative molecular defects encompass the members of the Ras/MAPK/ERK pathway and the adjacent cascades, important for the maintenance of normal bone homeostasis. It has been suggested that modulation of the expression of specific molecules involved in the processes of bone remodeling may affect the osteogenic fate decision, potentially, bringing out new pharmaceutical targets. Currently, the laboratory imprint of bone metabolism on the clinical picture of the affected individuals is not clear, maybe due to the rarity of these syndromes, the small number of the recruited patients and the methods used for the description of their clinical and biochemical profiles.

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Section: Musculoskeletal Features and Biochemical Bone Profilementioning

confidence: 88%

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Papadopoulou,

Bountouvi

2023

Front. Endocrinol.

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Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients

Bessis,

Bursztejn,

Morice‐Picard

et al. 2024

Acad Dermatol Venereol

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BackgroundData on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description.ObjectivesTo describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype–genotype correlations.MethodsWe performed a 10‐year, large, prospective, multicentric, collaborative dermatological and genetic study.ResultsThirty‐one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and ‘cobblestone’ papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype–genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S).Conclusions and RelevanceThis validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.

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Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients

Cited by 2 publications

References 15 publications

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients

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