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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 ...
Dr. John Opitz, a former student of Noonan's, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had described. Noonan produced a paper titled "Hypertelorism with Turner Phenotype" in 1968 where she studied 19 patients who displayed symptoms indicative of Noonan's Syndrome. [ 47 ]
Print/export Download as PDF ... Familial multiple lentigines syndrome without systemic involvement [1] ... Noonan syndrome with multiple lentigines or Peutz ...
Print/export Download as PDF ... Noonan syndrome with multiple lentigines (NSML), ... This page was last edited on 24 August 2024, at 11:25 (UTC).
Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17 (17q23-q24) [11] which may function as a tumor-suppressor gene. The encoded protein is a type 1A regulatory subunit of protein kinase A. Inactivating germline mutations of this gene are found in 70% of people with Carney complex.
Centrofacial lentiginosis is a cutaneous condition characterized by lentigines on the nose and adjacent cheeks. [ 1 ] : 686 The condition is associated with sacral hypertrichosis , developmental delay , seizures , absent middle incisors, skeletal, abnormalities, dwarfism , endocrine dysfunction and congenital mitral valve stenosis .
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 ...
[5] [6] [7] The epidermis is the most superficial layer of skin, a squamous epithelium with several strata: the stratum corneum, stratum lucidum, stratum granulosum, stratum spinosum, and stratum basale. [8] Nourishment is provided to these layers by diffusion from the dermis since the epidermis is without direct blood supply.