Scalp–ear–nipple syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Scalp–ear–nipple syndrome
Synonyms	Finlay–Marks syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Alopecia, microtia, hypoplastic or absent nipples
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical diagnosis, genetic testing
Differential diagnosis	Branchio-oto-renal syndrome, CHARGE syndrome
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Scalp–ear–nipple syndrome (SENS) is a rare genetic disorder characterized by abnormalities of the scalp, ears, and nipples. It is also known as Finlay-Marks syndrome, named after the researchers who first described the condition.

Signs and Symptoms

Individuals with Scalp–ear–nipple syndrome typically present with the following features:

• Scalp: The presence of aplasia cutis congenita, which is a condition where there are localized areas of missing skin on the scalp.
• Ears: Malformations of the external ear, which may include low-set ears, underdeveloped ears, or other structural anomalies.
• Nipples: Hypoplastic or absent nipples, which can affect both males and females.

Genetics

Scalp–ear–nipple syndrome is inherited in an autosomal dominant manner. This means that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene associated with SENS is the KCTD1 gene, which plays a role in the development of various tissues in the body.

Diagnosis

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 detecting mutations in the KCTD1 gene.

Management

There is no cure for Scalp–ear–nipple syndrome, and treatment is symptomatic and supportive. Management may involve:

• Surgical correction of scalp defects
• Reconstructive surgery for ear anomalies
• Monitoring and management of any associated conditions

Prognosis

The prognosis for individuals with Scalp–ear–nipple syndrome varies depending on the severity of the symptoms. Most individuals can lead normal lives with appropriate medical care and management of symptoms.

See also

• Genetic disorder
• Aplasia cutis congenita
• Autosomal dominant
• KCTD1