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Encephalocraniocutaneous Lipomatosis.
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R. Bavle A, et al. J Pediatr Hematol Oncol. 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. J Pediatr Hematol Oncol. 2018. PMID: 29683947
On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma) (). ...
On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue …
Encephalocraniocutaneous Lipomatosis: A Case Report.
Zaworski E, Gruber E, Regent-Smith A, Jones KL, Chalhoub MS, Lin K. Zaworski E, et al. Ann Plast Surg. 2024 Apr 1;92(4):e29-e31. doi: 10.1097/SAP.0000000000003814. Ann Plast Surg. 2024. PMID: 38527346
One clinically apparent major criterion for the diagnosis of ECCL is nevus psiloliparus (NP), a fatty nevus with overlying nonscarring alopecia. ...
One clinically apparent major criterion for the diagnosis of ECCL is nevus psiloliparus (NP), a fatty nevus with overlying non …
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.
Beyens A, Dequeker L, Brems H, Janssens S, Syryn H, D'Hooghe A, De Paepe P, Vanwalleghem L, Stockman A, Vankwikelberge E, De Schepper S, Goeteyn M, Delbeke P, Callewaert B. Beyens A, et al. Int J Mol Sci. 2022 Apr 6;23(7):4036. doi: 10.3390/ijms23074036. Int J Mol Sci. 2022. PMID: 35409398 Free PMC article.
This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 KRAS variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus. The presence of a nevus psiloliparus in individuals with OES i …
This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 KRAS variants in an individual with OES and, for th …