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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 ...
Familial multiple lentigines syndrome without systemic involvement [1] Generalized lentiginosis is inherited in an autosomal dominant manner: Specialty:
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 (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, ...
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]
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 ...
These are spotted areas created by accumulation in the skin due to sun exposure. Due to a high irregularity any distinction from randomness defines lentiginosis. Although lentigines are benign, they be the signal of an underlying problem such as progressive cardiomyopathic lentiginosis, which can cause retardation in children. [2]
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).