Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome, also known as BCAGS, is a rare genetic disorder that affects the skin and other tissues.

Key Features:

• Skin abnormalities: The condition is characterized by the presence of multiple, small, rounded or oval-shaped bumps on the skin, typically on the face, neck, and upper trunk. These bumps are usually firm to the touch and can be accompanied by a range of other skin lesions.
• Hair growth: Individuals with BCAGS often experience excessive hair growth in areas where it is not normally present, such as the face, neck, and shoulders.
• Other symptoms: Some people with BCAGS may also experience additional symptoms, including:
  • Skin tags or small growths on the skin
  • Thickening of the skin (cutis gyrata)
  • Abnormalities in the nails or teeth

Causes and Diagnosis:

• Genetic mutation: BCAGS is caused by a genetic mutation that affects the GNA11 gene, which plays a crucial role in cell signaling.
• Inheritance pattern: The condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

Treatment and Management:

• Surgical removal: In some cases, surgical removal of the skin lesions or other affected tissues may be necessary to improve appearance and alleviate symptoms.
• Cosmetic treatments: Various cosmetic treatments, such as laser therapy or chemical peels, can help reduce the appearance of skin lesions and other symptoms.

Prognosis:

• Variable severity: The severity of BCAGS can vary significantly from person to person, with some individuals experiencing mild symptoms while others may have more severe manifestations.
• Life expectancy: In general, people with BCAGS have a normal life expectancy, although the condition may require ongoing management and treatment.

References:

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Beare-Stevenson cutis gyrata syndrome (BSTVS) is a rare genetic disorder characterized by craniosynostosis, which is the premature fusion of certain bones in the skull. This condition can lead to several physical abnormalities and developmental delays.

Physical Symptoms:

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Beare-Stevenson cutis gyrata syndrome, also known as Beare-Stevenson syndrome (BSS), is a rare genetic disorder that affects the skin and bones. Diagnostic tests for this condition are crucial in confirming the diagnosis and identifying the disease-causing mutations within a family.

Molecular Testing Molecular testing is a recommended diagnostic approach for individuals with clinical signs and symptoms, suspicion of, or family history of Beare-Stevenson cutis gyrata syndrome [3]. This test involves genetic analysis to provide a molecular diagnosis of the disorder. It is essential for individuals with a personal and/or family history of this condition to ensure accurate diagnosis and informed decision-making about treatment options [6].

Next Generation Sequencing (NGS) Test A next-generation sequencing (NGS) test is an appropriate diagnostic tool for Beare-Stevenson cutis gyrata syndrome. This test can identify the disease-causing mutations within a family, allowing for informed decisions about genetic counseling and potential treatment options [3].

Recommended Diagnostic Approach The recommended diagnostic approach for Beare-Stevenson cutis gyrata syndrome involves molecular testing to confirm the diagnosis and identify the disease-causing mutations within a family. This approach is essential for accurate diagnosis and informed decision-making about treatment options.

References: [1] Clinical resource with information about Beare-Stevenson cutis gyrata syndrome and its clinical features, FGFR2, available genetic tests from US and labs. [3] This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of ... [6] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ...

Beare-Stevenson cutis gyrata syndrome (BSTVS) is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull), skin abnormalities, and other physical features. While there is no general treatment for this syndrome, various medical treatments can help manage its symptoms.

Surgical Treatment

• Craniosynostosis: Surgery may be necessary to separate the prematurely fused bones in the skull, which can help alleviate pressure on the brain and improve cognitive function [7].
• Skin abnormalities: Surgical excision of skin lesions or tags may be performed to improve appearance and reduce risk of complications [5].

Medical Management

• Pain management: Medications such as acetaminophen or ibuprofen can help manage pain associated with craniosynostosis or skin lesions [1].
• Infection prevention: Antibiotics may be prescribed to prevent infections in individuals with compromised immune systems due to their condition [3].

Emerging Therapies

• Protein inhibitors: Research has identified potential medical treatments for skull and skin birth defects, including protein inhibitors that may help manage symptoms of BSTVS [8].

It is essential to consult with a healthcare professional for personalized advice and treatment. They can assess the individual's specific needs and develop a tailored plan to address their condition.

References:

[1] Jun 1, 2020 — Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull. [3] by N Ron · 2016 · Cited by 9 — Other common features include cutis gyrata, acanthosis nigricans, ear and eye defects, skin/mucosal tissue tags, prominent umbilical stump, and ... [5] Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata. [7] Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull) [8] May 15, 2012 — Protein inhibitor points to potential medical treatments for skull and skin birth defects ... Researchers at Mount Sinai School of Medicine in New ... [10] Your treatment depends on the type of mental illness you have, its severity and what works best for you. In many cases, a combination of treatments works best. If you have a mild mental illness with well-controlled symptoms, treatment from your primary care provider may be sufficient. However, often a team approach is appropriate to make sure ...

Beare-Stevenson cutis gyrata syndrome, also known as Beare-Stevenson syndrome, is a rare genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull. When it comes to differential diagnosis, several other conditions need to be considered.

• Pfeiffer syndrome: This condition is characterized by craniosynostosis, which is the premature fusion of the bones of the skull, similar to Beare-Stevenson cutis gyrata syndrome. However, Pfeiffer syndrome also involves additional features such as broad thumbs and toes, and a distinctive facial appearance [1][2].
• Crouzon syndrome: This condition is another type of craniosynostosis that affects the bones of the skull, leading to an abnormal head shape. Crouzon syndrome can also involve eye problems and other facial abnormalities [3].
• Thanatophoric dysplasia: This is a rare genetic disorder that affects bone development, leading to short stature and skeletal deformities. Thanatophoric dysplasia can be confused with Beare-Stevenson cutis gyrata syndrome due to similar craniosynostosis features [4].

These conditions are often considered in the differential diagnosis of Beare-Stevenson cutis gyrata syndrome because they share some similarities in their clinical presentation.

The key to accurate diagnosis is a thorough evaluation of the patient's medical history, physical examination, and diagnostic tests. Molecular genetic testing can also be used to confirm the presence of mutations in the FGFR2 gene, which causes Beare-Stevenson cutis gyrata syndrome [5].

Early recognition and treatment of these conditions are crucial for improving outcomes and reducing complications.

References:

[1] Jun 1, 2020 — The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 ...

[2] by N Ron · 2016 · Cited by 9 — Defined features of the syndrome included craniofacial anomalies (particularly craniosynostosis), cutis gyrata, acanthosis nigricans, skin/...

[3] by SH Eun · 2007 · Cited by 23 — Beare-Stevenson syndrome generally refers to a condition of syndromic craniosynostosis, which is characterized by a cloverleaf-shaped skull, craniofacial...

[4] Jun 1, 2020 — Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2...

[5] by SL Lee · 2005 — Differential diagnosis included Pfeiffer syndrome, Crouzon syndrome and thanatophoric dysplasia. The patient went for a second opinion in a...