A middle-aged female patient was on follow up at dermatology department after excision of histologically confirmed basal cell carcinoma(BCC). She had previous surgical interventions because of jaws cysts. Imaging studies revealed skeletal abnormalities.
Forty-one-year-old female patient with multiple skin lesions with some years of evolution, on regular follow up at the dermatology department. Excision of the reported lesions revealed features of BCC. Physical examination showed that most of the teeth were missing due to prior surgical interventions to remove odontogenic cysts (first intervention at 13 years of age) and multiple skin lesions. Due to these findings the hypothesis of Gorlin syndrome was considered and a radiographic study was made to search for skeletal abnormalities. The PA chest and costal grid radiographs revealed that the 3rd rib on the left and 8th rib on the right were bifid. The AP and lateral radiographs of the skull showed linear calcification of the falx cerebri and bone cysts. The radiographs which included the spine, the pelvis, hands and feet showed slight osteopenia.
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a multisystemic disease caused by mutations in the PTCH1 gene and transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. The prevalence varies from 1/57, 000 to 1/256.000, with a male-to-female ratio of 1:1 [1]. Manifestations may include changes of the skin and many other systems like the stomatological, the central nervous system, the skeletal, the ocular, the genito-urinary and the cardiovascular [1, 2] BCCs most often appear between puberty and 35 years of age varying in number and in size, appearing , most likely, on the sun-exposed parts of the body [2].
Recurrent jaw cysts are the main oral sign and are known as odontogenic keratocyst (OKCs), being the most consistent and representative signs of NBCCS in the first and the second decades of life [3] .
Other features are calcification of the falx cerebri, palmar and plantar epidermal pits, spine and rib anomalies, relative macrocephaly, facial milia, frontal bossing, ocular malformation, medulloblastomas, cleft lip and/or palate, and developmental malformations [1, 2, 3, 4].
The clinical diagnosis of NBCCS can be made in the presence of two major criteria or one major and two minor criteria [1].
Major criteria: 1. Multiple (>2) BCCs or one under 20 years 2. Odontogenic keratocysts of the jaws 3. Palmar or plantar pits (3 or more) 4. Bilamellar calcification of the falx cerebri 5. Bifid, fused or markedly splayed ribs 6. First degree relatives with NBCCS
Minor criteria: 1. Macrocephaly 2. Congenital malformation: cleft lip or palate, frontal bossing, "coarse face", moderate or severe hypertelorism 3. Other skeletal abnormalities: sprengel deformity, marked pectus deformity, marked syndactyly of the digits 4. Radiological abnormalities: bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or elongation of the vertebral bodies, modeling defects of the hands and feet, or flame-shaped lucencies of the hands or feet 5. Ovarian fibroma 6. Medulloblastoma.
The present case report features a patient with multiple BCCs, odontogenic keratocysts of the jaws, bilamellar calcification of the falx cerebri and bifid ribs which accounts for 4 major criteria. With these findings we can conclude that our patient has NBCCs.
Management of NBCCs requires a multidisciplinary approach (dermatologist, neurologist and odontologist). Life expectancy in NBCCS is not significantly altered, however, these patients need to avoid excessive sun exposure to prevent the BCCs from becoming invasive [3].
Nevoid basal cell carcinoma or syndrome Gorlin-Golz syndrome
1. On the posteroanterior chest X-ray, partial rib structural abnormalities can be observed, suggesting the possibility of bifid ribs or significant rib deformities.
2. On the lateral skull X-ray, possible calcification of the inner layer of the dura of the cranial vault is seen, especially a dense shadow along the midline, indicating falx cerebri calcification.
3. Based on the patient’s past medical history, there was a history of mandibular cysts (radiographically, bone erosion or cystic changes are often observed), which is consistent with the prior report of “jaw cyst resection surgery” in this case.
4. No obvious large-area soft tissue swelling or signs of acute fracture.
Based on the imaging findings and the patient's clinical history, the following diagnoses or differential diagnoses should be considered:
1. Nevoid Basal Cell Carcinoma Syndrome (NBCCS/Gorlin Syndrome): The patient exhibits multiple basal cell carcinomas, a history of jaw cysts, intracranial dural calcifications, and rib abnormalities, matching several major criteria for NBCCS.
2. Sporadic Basal Cell Carcinoma With Other Jaw Lesions: It is still necessary to rule out the possibility of multiple basal cell carcinomas coexisting with odontogenic cysts; however, imaging findings and family history typically do not align with sporadic cases.
3. Other Hereditary Tumor Syndromes: Certain genetic disorders (e.g., PTEN-related syndromes) can present with multiple tumors or skeletal abnormalities, but their specific manifestations differ from NBCCS, requiring comprehensive clinical and genetic testing for differentiation.
Combining the patient’s confirmed basal cell carcinoma, recurrent jaw cysts, falx cerebri calcification, and bifid ribs—four major diagnostic criteria of NBCCS—confirms a diagnosis of Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome).
For further confirmation, genetic testing (such as PTCH1 gene mutation screening) may be performed. However, based on the current clinical and imaging evidence, the diagnosis is essentially confirmed.
1. Treatment Strategy:
a. Management of Cutaneous Tumors: Regular dermatological follow-ups and prompt treatment of newly developed or suspicious lesions; possible treatment options include surgical excision, local radiotherapy, and photodynamic therapy.
b. Jaw Cyst and Oral Management: Multidisciplinary consultation (oral and maxillofacial surgery, plastic surgery, dentistry). For existing or suspected recurrent odontogenic keratocysts (OKC), combined imaging evaluation and surgical intervention are required.
c. Cranial and Other Systemic Evaluations: Neurological or imaging follow-ups may be necessary, especially for early detection of central nervous system lesions such as medulloblastoma.
d. Genetic Counseling and Family Screening: Given the hereditary nature of NBCCS, it is recommended that immediate family members undergo relevant examinations and genetic counseling.
e. Daily Sun Protection and Lifestyle Management: Avoid excessive sun exposure and UV radiation to reduce the risk of recurrent or new basal cell carcinomas. Maintain healthy lifestyle habits and have regular check-ups.
2. Rehabilitation/Exercise Prescription:
• General Principles: Follow a gradual and individualized exercise regimen, avoiding excessive stress on bone tissue.
• Types of Exercise: Focus on low-impact aerobic activities (e.g., brisk walking, swimming, stationary cycling) and light to moderate resistance training.
• FITT-VP Principles:
a. Frequency: 3-5 times per week.
b. Intensity: For beginner to intermediate patients, use low to moderate intensity (perceived exertion of “slightly strenuous”), with heart rate maintained at 50-60% of maximum.
c. Time: About 30 minutes per session, which can be divided (e.g., 15 minutes × 2).
d. Type: Choose low-impact exercises, avoiding abrupt transitions that may lead to falls or excessive loading on the skeleton.
e. Progression: As endurance and fitness improve, gradually increase intensity and duration. Evaluate every 2-4 weeks and adjust appropriately.
f. Volume: Adjust based on post-exercise self-assessment and medical advice, ensuring a stable but not excessive weekly increase in total exercise volume.
• Special Considerations: Patients with potential skeletal abnormalities should avoid high-impact or torsional movements such as intense sprints or heavy squats. Regularly monitor skeletal health, and seek medical attention if joint pain or skeletal discomfort occurs.
Disclaimer: The above report is for medical reference only and is not a substitute for in-person consultation or professional medical advice. If you have any questions or changes in your condition, please consult a professional physician promptly for further evaluation.
Nevoid basal cell carcinoma or syndrome Gorlin-Golz syndrome
