RAS-pathies: Noonan syndrome and other related diseases. The literature review

Faassen, Martijn van

doi:10.14341/probl201460645-52

Probl Endokrinol (Mosk)

2014

DOI: 10.14341/probl201460645-52

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RAS-pathies: Noonan syndrome and other related diseases. The literature review

Martijn van Faassen¹

Abstract: Более 40 лет назад детским кардиологом Жа-клин Нунан был описан синдром, фенотипически похожий на синдром Шерешевского-Тернера (СШТ) -врожденные пороки сердца (чаще право-сторонние, в отличие от СШТ), дисморфные черты лица, низкопосаженные и ротированные кзади уш-ные раковины, крыловидные складки шеи, дефор-мация грудной клетки. У мальчиков иногда встре-чался крипторхизм. На сегодняшний день известно, что синдром Нунан обусловлен мутациями несколь-ких генов (PTPN11, SOS1, KRAS и др.) и относится к группе сходн… Show more

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Cited by 4 publications

References 48 publications

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Follicular Keratosis in Adolescents: Diagnostic Features and Cosmetological Aspects of Therapy

Иконникова

Круглова

2022

Vopr. sovr. pediatr.

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Follicular keratosis (FK) is one of the most common dermatological diseases in children. FK manifests usually in early childhood and worsen frequently, thus, symptoms are more prominent during puberty. The skin of proximal extensors of upper and lower limbs is mainly affected, while skin of cheeks, back and buttocks is affected more rarely. FK is just a cosmetic defect which significantly affects adolescents’ self-esteem and emotional state up to the development of severe depressive syndrome and obsessive conditions accompanied by pathomimia. FK can be associated with other nosologies such as: atopic dermatitis, vulgar ichthyosis, obesity, diabetes mellitus, and even aggravate Down and Noonan syndromes. Spontaneous improvement is still possible with age. We can use topical therapy with emollient, keratolytic, anti-inflammatory drugs, as well as various types of laser and phototherapy to alleviate the disease symptoms. This article provides basic information on etiology, pathogenesis, and treatment of FK with clinical case description.

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Follicular Keratosis in Adolescents: Diagnostic Features and Cosmetological Aspects of Therapy

Иконникова

Круглова

2022

Vopr. sovr. pediatr.

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Non-immune hydrops fetalis: etiology, pathogenesis, features of diagnosis and treatment in the fetus and newborn

Dumova,

Sarkisyan,

Chugunova

et al. 2024

Det. infekc.

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Non-immune hydrops fetalis is a polyetiological disease characterized by high perinatal mortality. The development of non-immune fetal hydrops is associated with diseases of the cardiovascular and lymphatic systems, genetic and chromosomal diseases, infectious agents and many other reasons. In this regard, there is no single approach to the treatment of this extremely dangerous pathological condition, which requires the joint work of specialists from different specialties: obstetricians-gynecologists, neonatologists, cardiologists, surgeons, hematologists and geneticists. This article provides a review of current literature data on the etiology, pathogenesis, clinical manifestations, treatment and outcomes of non-immune hydrops fetalis.

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Orodental manifestations of Noonan syndrome: a clinical case study

Modina,

Mamaeva,

Moseeva

et al. 2024

jour

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Relevance. Mutations in the PTPN11 gene, a hallmark of Noonan syndrome, disrupt the normal development of connective tissue structure, resulting in a range of manifestations, including orodental abnormalities.Clinical case description. This article presents a medical record of a 14-year-old patient diagnosed with Noonan syndrome who sought medical assistance due to exacerbated chronic generalized periodontitis. The authors implemented a two-stage treatment approach, resulting in satisfactory outcomes. They identified concurrent orodental symptoms and conducted analyses of orthopantomography and bone densitometry for both jaws. A personalized treatment schedule was devised, emphasizing the necessity for the patient's chronic periodontitis to be in a state of remission and the utilization of sedation for effective management. Following the implementation of a planned series of therapeutic interventions during the remission stage, including professional oral care, teeth splinting with orthodontic retainers, nonsurgical root debridement, and mandibular labial frenuloplasty, quarterly follow-up assessments were chosen as the preferred monitoring method.Conclusion. Patients with hereditary pathologies, such as Noonan syndrome, often exhibit significant orodental manifestations. Addressing such conditions necessitates specific treatment techniques that integrate a comprehensive approach, timely diagnostics, and collaboration between general practitioners and dentists. Given the unique needs of these patients, it is essential to develop personalized treatment protocols tailored to their individual requirements, including the duration and efficacy of chosen treatments, as well as considerations for anesthesia or sedation care.

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RAS-pathies: Noonan syndrome and other related diseases. The literature review

Cited by 4 publications

References 48 publications

Follicular Keratosis in Adolescents: Diagnostic Features and Cosmetological Aspects of Therapy

Follicular Keratosis in Adolescents: Diagnostic Features and Cosmetological Aspects of Therapy

Non-immune hydrops fetalis: etiology, pathogenesis, features of diagnosis and treatment in the fetus and newborn

Orodental manifestations of Noonan syndrome: a clinical case study

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