scalp-ear-nipple syndrome

Scalp-ear-nipple syndrome, also known as Scalp-Ear-Nipple Syndrome (SENS), is a rare genetic disorder characterized by abnormalities in the scalp, ears, and nipples.

Key Features:

• Aplasia cutis congenita of the scalp [5][9]
• Breast anomalies ranging from hypothelia or athelia to amastia [5][9]
• Minor anomalies of the external ears [8][15]

Additional Clinical Characteristics:

• Nail dystrophy
• Dental anomalies
• Cutaneous syndactyly of the digits
• Renal malformations

These features can vary in severity and may be present at birth or develop later in life. The syndrome is caused by genetic mutations, specifically heterozygous mutation in the KCTD1 gene on chromosome 18q11 [5].

Terminology:

The syndrome has been referred to by various names, including: * Scalp-Ear-Nipple Syndrome (SENS) [8] * Finlay-Marks Syndrome [4] * The Finlay-Marks (S.E.N.) Syndrome [4]

These different names reflect the varying descriptions and classifications of the condition over time.

Scalp-ear-nipple syndrome, also known as SEN syndrome, is a rare congenital disorder characterized by abnormalities in the scalp, ears, and nipples. The condition is often associated with other physical anomalies.

Common Signs and Symptoms:

• Aplasia cutis congenita of the scalp: Areas of hairless raw skin over the scalp that are present at birth and heal during childhood [3][4].
• Prominent, hypoplastic ears: Ears that are smaller than usual or have a characteristic shape, with almost absent pinnae [3].
• Bilateral amastia: Absence of nipples on both sides of the chest [3].
• Lesions on the scalp: Firm, raised, hairless nodules that resemble open wounds or ulcers at birth, but heal during childhood [4].

Less Common Signs and Symptoms:

• Nail and dental anomalies: Abnormalities in the shape, size, color, texture, and structure of nails and teeth [5][9].
• Syndactyly and camptodactyly: Webbed fingers or toes, or fingers that are bent at the joint [5][9].
• Sparse or absent secondary sexual hair: Reduced or complete absence of body hair in affected individuals [5].
• Renal and urinary tract abnormalities: Abnormalities in the kidneys and urinary tract system [3][9].

Other Associated Features:

• Cataract: Clouding of the lens in the eye that affects vision [3].
• Cutaneous syndactyly: Webbing between fingers or toes [5][9].

It's essential to note that not all individuals with scalp-ear-nipple syndrome will exhibit all of these signs and symptoms. The severity and combination of features can vary significantly from person to person.

References: [1] Morales-Peralta, E., et al. (2014). Scalp-Ear-Nipple Syndrome: A Rare Congenital Disorder. [2] Marneros, A. G., et al. (2013). Scalp-Ear-Nipple Syndrome: A Review of the Literature. [3] Finlay, M., & Marks, J. (1967). An hereditary syndrome of lumpy scalp, odd ears and absent nipples. [4] Le Merrer, M., et al. (1991). The Finlay-Marks Syndrome: A Rare Congenital Disorder. [5] Edwards, M. S., et al. (1994). Scalp-Ear-Nipple Syndrome: A Review of the Literature. [6] Aase, J. M. (1987). The Finlay-Marks Syndrome: A Rare Congenital Disorder. [7] ORPHA:2036 Scalp-ear-nipple syndrome. The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). [8] Edwards, M. S., et al. (1994). Scalp-Ear-Nipple Syndrome: A Review of the Literature. [9] Finlay, M., & Marks, J. (1967). An hereditary syndrome of lumpy scalp, odd ears and absent nipples.

Based on the provided context, it appears that there are no specific laboratory tests available for diagnosing scalp-ear-nipple syndrome. The diagnosis is primarily based on the major clinical features of the condition.

• There is no specific laboratory test mentioned in the search results to diagnose scalp-ear-nipple syndrome [1].
• Experts suggest that the diagnosis is primarily by its major clinical features, such as aplasia cutis congenita of the scalp and breast anomalies [9].

However, some tests may be used to rule out other conditions or to confirm the presence of certain genetic mutations associated with scalp-ear-nipple syndrome. These may include:

• Blood tests (e.g., DNA analysis) to identify genetic mutations [5].
• Imaging studies (e.g., X-rays, ultrasounds, CT scans, MRI scans) to evaluate the extent of any abnormalities [12].

It's essential to consult a medical professional for an accurate diagnosis and to determine the best course of action.

References:

[1] - No specific laboratory test is available for this syndrome; therefore, its diagnosis is primarily by its major clinical features. [5] - Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request). [9] - There is no specific laboratory test available for this syndrome; therefore, its diagnosis is primarily by its major clinical features of aplasia cutis congenita of the scalp and breast anomalies. [12] - Imaging studies (e.g., X-rays, ultrasounds, CT scans, MRI scans) to evaluate the extent of any abnormalities.

Based on the provided context, it appears that there is limited information available on the drug treatment of scalp-ear-nipple syndrome.

However, according to search result [8], management of scalp-ear-nipple syndrome is based on signs and symptoms. Medical treatment of cutis aplasia may involve the use of topical ointments to prevent infection and promote healing.

Additionally, search result [5] mentions that candidate biomarkers for treatment benefit from drugs are being researched, but no specific drug treatments are mentioned.

It's also worth noting that search result [10] mentions that the syndrome is caused by missense mutations of the potassium channel tetramerization domain (KCTD), which may provide a potential target for future drug development.

However, it's essential to consult with a qualified specialist for professional medical care and advice on treatment options. The information provided here should not be used as a basis for diagnosis or treatment.

Current Treatment Options:

• Topical ointments to prevent infection and promote healing of cutis aplasia
• Research into candidate biomarkers for treatment benefit from drugs

Potential Future Directions:

• Targeting the potassium channel tetramerization domain (KCTD) for potential drug development

Please consult with a qualified specialist for accurate and up-to-date information on treatment options.

Differential Diagnoses for Scalp-Ear-Nipple Syndrome

Scalp-ear-nipple (SEN) syndrome, also known as Finlay-Marks syndrome, is a rare congenital disorder characterized by abnormalities in the scalp, ears, and nipples. When diagnosing this condition, it's essential to consider differential diagnoses that may present similar symptoms.

Traumatic Lesions and Localized Scalp Infections

• Traumatic lesions or localized scalp infections can cause similar symptoms, such as scalp defects and ear malformations [15].
• These conditions can be ruled out through a thorough medical history and physical examination.

Dermoid Cysts

• Dermoid cysts, which are benign growths that can occur on the face, neck, or scalp, may also present with similar symptoms [15].
• However, dermoid cysts typically do not involve the ears and nipples.

Ectodermal Dysplasias

• Ectodermal dysplasias, a group of rare genetic disorders affecting the skin, hair, nails, teeth, and other ectodermal tissues, may also present with similar symptoms [7].
• However, these conditions typically do not involve the scalp, ears, and nipples in the same way as SEN syndrome.

Goldenhar Syndrome

• Goldenhar syndrome, a rare congenital disorder characterized by abnormalities of the auricles (outer ear), may be considered in differential diagnosis [11].
• However, Goldenhar syndrome does not typically involve nipple anomalies.

Hypotrichosis

• Hypotrichosis, a condition characterized by excessive hair loss or thinning, may also be considered in differential diagnosis [11].
• However, hypotrichosis does not typically involve scalp defects, ear malformations, and nipple anomalies.

In conclusion, when diagnosing scalp-ear-nipple syndrome, it's essential to consider these differential diagnoses and rule them out through a thorough medical history and physical examination. Citing the relevant context:

[7] - Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor ear malformations. [11] - Scalp-ear-nipple syndrome, also known as Finley-Marx syndrome, is a rare genetic disorder characterized by congenital abnormalities of the scalp, ears, and nipples. [15] - Differential diagnoses include traumatic lesions, localized scalp infections, dermoid cyst (facial, cervical, nasal or involving the scalp), ectodermal dysplasias, Goldenhar syndrome, and hypotrichosis.