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Lentigines spots are not just a skin problem! How did they become the mysterious signal of NSML?
Noonan syndrome with multiple lentigines (NSML) is a rare, auto-dominant, multisystem disorder that is part of the Ras/MAPK pathway syndromes. The cause of NSML is a mutation in the PTPN11 gene, which causes abnormalities in multiple systems in the body. Some of its characteristic symptoms mainly involve the skin, bones and cardiovascular system.
"The specific relationship between the pathogenesis of NSML and mutations is currently unclear, but research is ongoing."
However, not every patient exhibits these characteristics. Although Noonan syndrome is relatively common (1 in 1,000 to 2,500 live births), epidemiological data on NSML are almost non-existent, making the syndrome even more mysterious and intriguing.
Signs and symptoms
Due to the diversity of its features, the syndrome of NSML is often referred to as LEOPARD syndrome, an abbreviation that refers to the seven characteristics of the condition: Lentigines, Electrocardiographic abnormality, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation, and Deafness .
"Lentigines, reddish-brown to dark brown patches on the skin, are often numerous and may exceed 10,000 in reports."
These spots often appear over large areas of the skin and sometimes even inside the mouth or on the surface of the eyeballs. Some patients also develop electrocardiographic conduction abnormalities, most commonly bundle branch block, which are usually discovered during cardiac examination.
In terms of facial features, wide distance between the eyes is one of the obvious symptoms. NSML patients may have facial abnormalities such as a broad nasal root, protruding jaw, and low-set ears. These appearance features make NSML patients identifiable and arouse people's curiosity.
Pathophysiology
Two major mutations in NSML, Y279C and T468M, lead to the loss of catalytic activity of the SHP2 protein, an underappreciated mutational behavior. These mutations interfere with growth factors and related signaling processes.
"The specific mechanism of this process requires further study to determine how this relates to all observed effects of NSML."
Diagnosis and Treatment
Diagnosis of NSML usually requires genetic testing. According to a study of ten infants, approximately 80% were confirmed to have the suspected mutation. For families who suspect they have NSML, it is wise to receive genetic counseling to learn about the genetic likelihood of the disease.
The monitoring and treatment plan includes regular follow-up with specialists such as cardiologists, endocrinologists and dermatologists. Once diagnosed, day-to-day management of symptoms once they occur is key.
“For those who are troubled by spots, cryosurgery or topical ointments containing tretinoin or hydroquinone may be considered to reduce the appearance of spots.”
Prognosis and Demography
Overall, NSML itself is not a fatal diagnosis, and many people diagnosed with this condition live normal lives. However, it is important to note that severe pathological findings in the cardiovascular system may result in potential health risks.
According to the literature, NSML has been described as "rare" or "extremely rare," but epidemiological data on the number of patients worldwide are lacking. According to the existing medical literature, there are approximately 200 easily identifiable cases of NSML.
Conclusion
Although NSML appears to be a rare disease, the deep link between genetic mutations and symptoms it represents continues to cause concern in the medical community. With more research and understanding, perhaps its mystery can be unveiled in the future, so that patients and their families will no longer be confused and afraid of the disease. And under these small spots, how many unknown stories are waiting for us to explore and reveal?
