nevoid basal cell carcinoma syndrome 1

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Description

Nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, is a rare genetic disorder characterized by various developmental abnormalities and an increased risk of cancer. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

Key Features:

• Skeletal Abnormalities: Bifid ribs (ribs split into two pieces) and wedge-shaped vertebrae are common features.
• Developmental Abnormalities: Cleft palate, broad nose, heavy protruding brow, jaw that sticks out in some cases, wide-set eyes, and pitting on palms and soles are also associated with NBCCS.

Increased Cancer Risk:

• Basal Cell Skin Cancer: People with NBCCS have a very high risk of developing basal cell skin cancer.
• Ovarian Tumors: The risk for ovarian tumors is also increased in individuals with this condition.

Other Associated Features:

• Jaw Cysts: Small, fluid-filled cysts can form on the jawbone.
• Multiple Keratocysts: These are a type of jaw cyst that can develop multiple times.

The description of nevoid basal cell carcinoma syndrome is characterized by its rare occurrence and the presence of various developmental abnormalities and an increased risk of cancer. [1][2][3][4][5]

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome): Signs and Symptoms

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

• Multiple Basal Cell Carcinomas: This is one of the most common features of Gorlin syndrome, with multiple basal cell carcinomas appearing on the skin (1).
• Keratocysts: Jaw cysts, known as keratocysts, are a representative sign of nevoid basal cell carcinoma syndrome and are found in 90 percent of affected individuals (2).
• Pits on Palms and Soles: Small pits or depressions can appear on the palms and soles of people with Gorlin syndrome (3), (8).
• Skeletal Abnormalities: Other signs and symptoms include abnormalities of the spine, ribs, or other bones (5).
• Brain Tumors: In some cases, individuals with Gorlin syndrome may develop brain tumors, such as meningioma or medulloblastoma (4), (3).

It's essential to note that not everyone with Gorlin syndrome will exhibit all of these symptoms. If you suspect you or a family member might have this condition, consult a medical professional for proper evaluation and diagnosis.

References: (1) Common symptoms include multiple basal cell carcinomas, recurrent keratocystic odontogenic tumors of the jaws, pits of the palms and soles and skeletal ... (2) Keratocysts. Jaw cysts, known as keratocysts, are a representative sign of nevoid basal cell carcinoma syndrome, and are found in 90 percent of affected ... (3) What are the symptoms of Gorlin syndrome? · Brain tumors, including meningioma or medulloblastoma. · Cleft lip or palate. · Eye problems, including crossed eyes (... (4) The risk for ovarian tumors and skin cancer is increased with basal cell nevus syndrome (also called Gorlin syndrome or nevoid basal cell carcinoma) (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 ... (8) Symptoms of nevoid basal cell carcinoma syndrome · Small pits in the palms of the hands or soles of the feet · Large head size (macrocephaly), which may develop ...

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

• Molecular genetic testing: This is the gold standard for diagnosing NBCCS. It involves identifying a heterozygous germline pathogenic variant in PTCH1 or SUFU genes ([1], [3]). This test can establish the diagnosis if clinical findings are suggestive.
• X-ray films: Skeletal defects, such as bifid ribs or extra digits, may be visible on X-rays and can help make the diagnosis. Approximately 5% of individuals with NBCCS have skeletal defects ([2]).
• Imaging tests: Regular monitoring is necessary to avoid complications of NBCCS. Annual imaging tests, including echocardiogram (ultrasound of the heart), MRI of the brain, skin biopsy of tumors, and X-rays of the bones, teeth, and jaw may be recommended ([8]).

It's worth noting that genetic testing is almost always positive in typical cases of NBCCS, but there are rare gene variants that may be missed by standard laboratory procedures ([9]).

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, jaw cysts, and other abnormalities. While there is no cure for this condition, various treatment options are available to manage its symptoms.

• Topical treatments: Imiquimod cream (Aldara) has been shown to be effective in treating superficial basal cell carcinomas, with response rates of over 80% when used 5 times a week for 6 weeks [5]. Another topical treatment, 0.75% LDE225 cream, has also been found to cause BCC regression and is well-tolerated [2].
• Photodynamic therapy: This treatment uses light-sensitive medications and special light to destroy skin lesions.
• Surgery: Surgical removal of tumors or jaw cysts may be necessary in some cases. Other therapies, such as radiation therapy, may also be utilized.

Newer Medications in Development

Researchers are working on developing newer medications for the rational drug treatment of patients with SOFU gene variants. These treatments aim to target specific genetic mutations associated with this condition [3].

References:

• 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 [5].
• Treatment with 0.75% LDE225 cream in NBCCS patients was very well tolerated and caused BCC regression, thus potentially offering an attractive therapeutic option [2].
• Newer medications are in development for rational drug treatment of patients with SOFU gene variants [3].

Differential Diagnoses for Nevoid Basal Cell Carcinoma Syndrome (NBCCS)

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare genetic disorder characterized by multiple developmental abnormalities and an increased risk of various cancers. When diagnosing NBCCS, it's essential to consider differential diagnoses that can mimic or coexist with the condition.

Differential Diagnoses:

• Actinic Keratosis: A precancerous skin condition caused by prolonged exposure to sunlight.
  • Cited in [9] as a potential differential diagnosis for NBCCS.
• Bowen Disease: An early form of skin cancer that can appear as a flat, red patch on the skin.
  • Mentioned in [9] as another possible differential diagnosis.
• Cutaneous T-Cell Lymphoma: A type of non-Hodgkin lymphoma that affects the skin.
  • Listed in [9] as a potential differential diagnosis for NBCCS.
• Fibrous Papule of the Face: A benign growth on the face, often mistaken for a basal cell carcinoma.
  • Cited in [9] as a possible differential diagnosis.

Other Considerations:

When diagnosing NBCCS, it's also essential to consider other conditions that may present with similar symptoms or characteristics. These include:

• Bazex syndrome: A rare genetic disorder characterized by skin lesions, hypertrichosis, and hypohidrosis.
  • Mentioned in [8] as a potential differential diagnosis for NBCCS.

References:

[8], [9]

Note: The citations refer to the search results provided in the context.