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Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Carney complex and its subsets LAMB syndrome [1] and NAME syndrome [1] are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity. [2] [3] It is distinct from Carney's triad. Approximately 7% of all cardiac myxomas are associated with Carney complex. [4]
Familial multiple lentigines syndrome without systemic involvement [1] Generalized lentiginosis is inherited in an autosomal dominant manner: Specialty:
An early warning system (EWS), sometimes called a between-the-flags or track-and-trigger chart, is a clinical tool used in healthcare to anticipate patient deterioration by measuring the cumulative variation in observations, most often being patient vital signs and level of consciousness. [1]
The development of the ears and auditory system may be affected in people with Noonan's syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.
Lentigo in cats is a common dermatological condition characterized by the presence of small, flat, brownish spots on the skin — particularly around the lips, nose, and eyelid margins. Unlike in ...
A lentigo (/ l ɛ n ˈ t aɪ ɡ oʊ /) (plural lentigines, / l ɛ n ˈ t ɪ dʒ ɪ n iː z /) is a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin. It is a harmless (benign) hyperplasia of melanocytes which is linear in its spread.
Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome SYNGAP1-related intellectual disability Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic leukemia (JMML).