Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

Abstract

Background Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. Subjects carrying a pathogenetic variant in SOS1 gene tend to exhibit a distinctive phenotype that is characterized by ectodermal abnormalities. Cutis verticis gyrata (CVG) is a rare disease, congenital or acquired, characterized by the redundancy of skin on scalp, forming thick skin folds and grooves of similar aspect to cerebral cortex gyri. Several references in the literature have reported association between nonessential primary form of CVG and NS. Case presentation we report two cases of newborns with CVG and phenotype suggestive for NS who have been diagnosed to harbour the same pathogenetic variant in SOS1 gene. Conclusions previously described patients with NS presenting CVG had received only clinical diagnosis. Therefore we report the first patients with CVG in which the clinical suspicion of NS is confirmed by molecolar analysis.

Cutis Verticis Gyrata and epilepsy, is there a typical patient?

“…For instance, a study documented a case in which secondary CVG developed in a 46-year-old female patient with Cerebriform Intradermal Nevus (11). Furthermore, an Italian article published in 2022 reported two cases of CVG occurring in patients with Noonan syndrome (12). Additionally, a recent case report published in 2022 highlighted a case of CVG presenting in a patient diagnosed with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) (13).…”

LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient

“…Since prenatal diagnosis is possible to be performed for LS-associated conditions as for other RASopathie [ 5 ], the age of diagnosis in our patient could also have been more precocious. Cardiac defects such as VSDs can be detected as early as at 16–18 weeks of gestation and genetic syndromes are usually linked with features such as increased nuchal transparency through ultrasound examination [ 6 ], which was not performed in our case.…”

Report and follow-up on two new patients with Congenital Mesoblastic Nephroma

“…After birth, multispecialty co-management of newborn patients, which includes the integration of high-level surgical expertise with careful neonatological intensive care [41][42][43][44][45][46], is necessary to limit and/or prevent complications. Finally, the precise de nition of the histopathological and cytogenetic-molecular pro les [47][48][49][50][51] is indispensable to plan an individualized follow-up, oriented to early detection of any possible recurrences or associated anomalies and to improve the quality of life of these children and their families [52][53][54].…”