What is Carney complex syndrome?
Carney complex (CNC; MIM #160980) is a rare multiple endocrine neoplasia syndrome characterized by distinctive pigmented lesions of the skin and mucosal surfaces, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors [1,2].
How many people have Carney complex?
Carney complex affects males and females in equal numbers. Approximately 600 affected individuals have been reported since the disorder was first described in the medical literature in 1985. The disorder can present at any age, but the mean age at diagnosis is 20.
What is Lamb Syndrome?
LAMB syndrome. Specialty. Oncology, cardiology. Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity.
What are the symptoms of Li Fraumeni syndrome?
People with Li-Fraumeni syndrome should also watch closely for symptoms that could signal cancer, such as:
- Unexplained weight loss.
- Loss of appetite.
- Aches, pains, lumps or swellings that cannot be explained.
- Headaches or changes in vision or nerve function that do not go away.
How common are Myxomas?
Myxomas are more common in women. About 1 in 10 myxomas are passed down through families (inherited). These tumors are called familial myxomas. They tend to occur in more than one part of the heart at a time, and often cause symptoms at a younger age.
What causes Lamb Shaffer syndrome?
Genetics. This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene. This gene encodes a protein in the family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The gene is located on the short arm of chromosome 12 (12p12).
Is there a cure for Li-Fraumeni syndrome?
At this time, there is no standard treatment or cure for LFS or a germline TP53 gene variant. With some exceptions, cancers in people with LFS are treated the same as for cancers in other patients, but research continues on how to best manage those cancers involved in LFS.