Scalp-ear-nipple syndrome
Scalp-ear-nipple syndrome[edit | edit source]
Scalp-ear-nipple syndrome, also known as Finlay-Marks syndrome, is a rare genetic disorder characterized by a distinct set of physical anomalies affecting the scalp, ears, and nipples. This condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
Clinical Features[edit | edit source]
Individuals with scalp-ear-nipple syndrome typically present with the following features:
- Scalp Anomalies: The scalp may exhibit aplasia cutis congenita, which is a condition where localized areas of skin are absent at birth. This can lead to scarring and hair loss in the affected areas.
- Ear Anomalies: The ears may be malformed, with features such as low-set ears, underdeveloped pinnae, or preauricular tags.
- Nipple Anomalies: The nipples may be underdeveloped (hypoplastic) or completely absent (aplasia). This can affect both males and females.
- Additional Features: Some individuals may also have other anomalies, such as renal (kidney) abnormalities, skeletal anomalies, or developmental delays.
Genetic Basis[edit | edit source]
Scalp-ear-nipple syndrome is caused by mutations in the KCTD1 gene, which plays a role in the development of various tissues in the body. The exact mechanism by which mutations in this gene lead to the symptoms of the syndrome is not fully understood.
Diagnosis[edit | edit source]
Diagnosis of scalp-ear-nipple syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the KCTD1 gene.
Management[edit | edit source]
There is no cure for scalp-ear-nipple syndrome, and treatment is focused on managing the symptoms and complications associated with the condition. This may include:
- Surgical Interventions: To address scalp defects or ear malformations.
- Supportive Care: For any associated developmental delays or other health issues.
Prognosis[edit | edit source]
The prognosis for individuals with scalp-ear-nipple syndrome varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic and molecular basis of scalp-ear-nipple syndrome, which may lead to improved diagnostic and therapeutic options in the future.
See Also[edit | edit source]
- Aplasia cutis congenita
- Genetic disorders
- Autosomal dominant inheritance
- Finlay, A. Y., & Marks, R. (1978). "Scalp-ear-nipple syndrome: a new ectodermal dysplasia." *British Journal of Dermatology*, 99(5), 501-506.
- Online Mendelian Inheritance in Man (OMIM): [Scalp-ear-nipple syndrome](https://www.omim.org/entry/181270)
NIH genetic and rare disease info[edit source]
Scalp-ear-nipple syndrome is a rare disease.
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