All of the following are seen in RASopathies except:
Ans: (d) Desquamation of skinGenetic Home ReferenceThis is an entirely new topic, not for an undergraduate. Know the below and no need to learn anything more for a normal exam. Any further questions of this difficult nature will not be a competition in exams as almost for every student these questions will be a Doosra.RASopathies include:Neurofibromatosis type 1 (NF1)Noonan syndrome (NS)Noonan syndrome with multiple lentigines (NSML)Capillary malformation-ateriovenous malformation syndrome (CM-AVM)Costello syndrome (CS)Cardio-facio-cutaneous syndrome (CFC)Legius syndrome.Skin FindingsEctodermal findings typically consist of sparse, curly hair with sparse eyebrows and eyelashes, hyperkeratosis, keratosis pilaris, hemangioma, ichthyosis and progressively forming nevi.Desquamation of skin is not a finding in RAS-o-Pathies.
Hair abnormalities
Craniofacial abnormalities
Keratosis pilaris
Desquamation of skin
Cellular Pathology