nevoid basal cell carcinoma syndrome 2

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Description

Nevoid basal cell carcinoma syndrome, also known as Gorlin-Goltz syndrome or NBCCS, is a rare genetic disorder characterized by a variety of developmental abnormalities and predisposition to cancer. This condition affects multiple systems in the body, including the skin, nervous system, eyes, endocrine glands, urinary and reproductive systems.

Key Features:

• Rare genetic disorder
• Characterized by developmental abnormalities and increased risk of cancer
• Affects multiple systems in the body, including:
  • Skin (increased risk of basal cell carcinoma)
  • Nervous system
  • Eyes
  • Endocrine glands
  • Urinary and reproductive systems

References:

• [2] Nevoid basal cell carcinoma syndrome is a rare genetic disorder characterized by a variety of developmental abnormalities and predisposition to cancer.
• [5] The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way...
• [8] June 5, 2024 - Gorlin syndrome is a rare genetic condition that increases your risk of skin cancer. Another name for Gorlin syndrome is nevoid basal cell carcinoma syndrome.
• [6] August 8, 2021 - The risk for ovarian tumors and skin cancer is increased with basal cell nevus syndrome (also called Gorlin syndrome or nevoid basal cell carcinoma), a rare autosomal dominant cancer genetic syndrome.

Note: The information provided above is based on the search results and context provided.

Common Signs and Symptoms of Nevoid Basal Cell Carcinoma Syndrome

Nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, is a rare genetic disorder characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors, and other abnormalities. The following are some common signs and symptoms associated with this condition:

• Multiple Basal Cell Carcinomas: These are the most common type of skin cancer, and people with nevoid basal cell carcinoma syndrome often develop multiple basal cell carcinomas on their skin.
• Keratocystic Odontogenic Tumors: Also known as jaw cysts, these tumors are a representative sign of nevoid basal cell carcinoma syndrome and are found in 90 percent of affected individuals [2].
• Pits of the Palms and Soles: Small pits or depressions on the palms and soles are another common symptom of this condition.
• Skeletal Abnormalities: People with nevoid basal cell carcinoma syndrome may also experience skeletal abnormalities, such as abnormalities in the spine, ribs, or other bones [5].

It's worth noting that these symptoms can vary from person to person, and not everyone with nevoid basal cell carcinoma syndrome will exhibit all of them. If you're concerned about your health or suspect you might have this condition, it's essential to consult a medical professional for proper evaluation and diagnosis.

References: [2] - Keratocysts are a representative sign of nevoid basal cell carcinoma syndrome, and are found in 90 percent of affected individuals. [5] - Other signs and symptoms include a large head and unusual facial features; small pits in the skin on the hands and feet; abnormalities of the spine, ribs, or other bones.

Based on the provided context, here are the diagnostic tests for Nevoid Basal Cell Carcinoma Syndrome (NBCCS):

• Molecular genetic testing: This test can identify a heterozygous germline pathogenic variant in PTCH1 or SUFU genes, which establishes the diagnosis of NBCCS [1].
• X-ray films: Skeletal defects are typically only seen with the use of X-ray films and may be helpful in making the diagnosis. Approximately 5 percent of individuals with NBCCS have skeletal abnormalities visible on X-rays [2].
• Imaging tests: Regular monitoring is necessary to avoid complications of

Treatment Options for Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome)

Nevoid basal cell carcinoma syndrome, also known as Gorlin-Goltz syndrome, is a rare genetic disorder characterized by multiple basal cell carcinomas, among other symptoms. While there are various treatment options available, drug treatment has emerged as a promising approach.

Topical Imiquimod Cream

One of the most commonly used topical treatments for superficial basal cell carcinomas in patients with Gorlin-Goltz syndrome is imiquimod cream (Aldara). Studies have shown that this cream can achieve response rates of over 80% when used 5 times a week for 6 weeks [3]. Imiquimod works by stimulating the immune system to attack cancer cells.

Other Topical Treatments

In addition to imiquimod, other topical treatments such as fluorouracil (5-FU) cream have been explored for the treatment of superficial basal cell carcinomas in patients with Gorlin-Goltz syndrome [5]. These creams can be applied directly to the affected skin area and may help reduce tumor size.

Newer Medications

Research is ongoing to develop newer medications specifically designed for the treatment of patients with Gorlin-Goltz syndrome. These medications aim to target the underlying genetic mutations that contribute to the development of basal cell carcinomas [2].

Systemic Therapies

For more advanced cases, systemic therapies such as chemotherapy may be considered. Vismodegib, a hedgehog pathway inhibitor, has been shown to reduce tumor burden and block growth of new basal-cell carcinomas in patients with Gorlin-Goltz syndrome [7]. However, these treatments are typically reserved for more severe cases.

Multidisciplinary Approach

It's essential to note that treatment for nevoid basal cell carcinoma syndrome often involves a multidisciplinary approach, incorporating various therapies such as surgery, radiation therapy, and medications. A healthcare provider will work with the patient to determine the best course of treatment based on individual needs [4].

References:

[1] E Stockfleth · 2002 · Cited by 86 [2] Newer medications are in development for rational drug treatment of patients with SOFU gene variants. [3] Imiquimod (Aldara) is licensed for the treatment of superficial basal cell carcinomas giving response rates of over 80% when used 5 times a week for 6 weeks. [4] Care may involve managing symptoms with medications and surgical removal of any cancerous tissues or tumors. It may also include other treatments such as radiation therapy, chemotherapy, photodynamic therapy, cryosurgery. [5] Apr 3, 2024 — The most common chemotherapeutic agent used in superficial basal cell carcinoma is topical 5-fluorouracil. [7] by JY Tang · 2012 · Cited by 650 — Vismodegib reduces the basal-cell carcinoma tumor burden and blocks growth of new basal-cell carcinomas in patients with the basal-cell nevus syndrome.

Differential Diagnoses for Nevoid Basal Cell Carcinoma Syndrome (NBCCS)

Nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, is a rare genetic disorder characterized by an increased risk of various neoplasms and developmental abnormalities. When diagnosing NBCCS, it's essential to consider the following differential diagnoses:

• Bazex syndrome: A rare genetic disorder that affects the skin and mucous membranes, often presenting with basal cell carcinomas, milia, and other skin lesions.
• Trichoepithelioma papulosum multiplex: A rare condition characterized by multiple trichoepitheliomas, which are benign tumors of the hair follicle.
• Torre's syndrome (Muir-Torre's syndrome): A rare genetic disorder that increases the risk of developing basal cell carcinomas and other types of skin cancers.

These conditions can present with similar symptoms to NBCCS, making differential diagnosis crucial for accurate diagnosis and treatment. According to [6], the main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex, and Torre's syndrome (Muir-Torre's syndrome).

Additionally, other genodermatoses with multiple basal cell carcinomas should be considered in the differential diagnosis of NBCCS. These conditions can present with similar skin findings and an increased risk of neoplasms.

References:

• [3] L Lo Muzio · 2008 · Cited by 608 — Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome).
• [7] Nevoid basal cell carcinoma syndrome. Prevalence: 1-9 / 100 000. Inheritance ... Differential diagnosis includes: Sotos syndrome, Brooke-Spiegler syndrome, Bazex ...
• [5] What is the differential diagnosis for basal cell naevus syndrome? · Chronic sun exposure · Xeroderma pigmentosum · Other genodermatoses with multiple BCC — ...