Basal Cell Nevus Syndrome

What is Basal Cell Nevus Syndrome?

Basal Cell Nevus Syndrome is the condition associated with multi-organ disorder develops due to PTCH gene abnormality.

In medical documentation, Basal Cell Nevus Syndrome first reported almost fifty years prior, but the advancement of molecular genetics able to explain the detailed pathophysiology of this genetic disorder and open a path for future treatment opportunity.

Alternatively, the Basal Cell Nevus Syndrome is also known as Gorlin syndrome or Nevoid Basal Cell Carcinoma Syndrome1,2.

Basal Cell Nevus Syndrome phakomatosesophthalmology


The involve organs in Basal Cell Nevus Syndrome are skin, endocrine glands, nervous system, urinary systems, reproductive systems, eyes, and bones. This disorder is transferred through hereditary.

PTCH (patched) genetic mutation due to an autosomal dominant syndrome resultant the onset of Basal Cell Nevus Syndrome. The PTCH gene mutation observed on the 9q chromosomal arm. The penetration of this abnormal genetic mutation completely involves the whole physiological system and has variable expressivity. The clinical presentation of Basal Cell Nevus Syndrome the is variable from family to family, however within a family usually the appeared symptoms are same1,3.


Basal Cell Nevus Syndrome related symptoms appear at the adolescent or young adulthood age. This condition is mainly responsible for the development of the skin cancer and can be responsible for other types of cancers like breast cancer, ovarian cancer, and non-Hodgkin’s lymphoma. In childhood, Basal Cell Nevus Syndrome can cause a malignant brain tumor.

The main symptoms of Basal Cell Nevus Syndrome are as follows:

  • Basal Cell Nevus Syndrome  carcinoma is a sort of skin cancer arises at the time of puberty
  • The kerotocystic odontogenic tumor is a nonmalignant jaw tumor occurs during puberty.
  • Some unique physical features associated with Basal Cell Nevus Syndrome are as follows:
  • Broader nose
  • Presence of pitting or crater in the palms and soles
  • Larger size of head
  • Eyes are distant from each other
  • Eye brows are heavy and projected outer ward
  • Cleft palate
  • Jaw may protrude out
  • Spine related problem causes abnormal curvature and resultant of this leads to scoliosis and/ or kyphosis
  • Bone abnormalities also includes abnormal rib cage
  • Some additional nervous system defects can also associate with Basal Cell Nevus Syndrome
  • Blindness
  • Deafness
  • Convulsion
  • Intellectual disability3,4

Basal Cell Nevus Syndrome Risk Factors


Basal cell nevus syndrome usually has a family history. Therefore, at the initial diagnosis family history and medical history of any kind of skin cancers analysis is very important to plan the further diagnosis process. The usual findings during medical history analysis or physical examination are

  • Brain tumor at the childhood
  • Abnormality related to jaw or tooth development due to presence of cyst in the jaw
  • Eye problems related to defective iris or le
  • Inflammation inside the head because of brain edema
  • Rib cage abnormality
  • The different diagnostic tests performed to detect the detail abnormalities are as follows:
  • To understand the heart condition an echocardiogram is performed
  • Brain MRI is conducted to check brain related clinical presentation
  • Skin biopsy or other tumor cell biopsy is conducted for determining the carcinogenicity
  • X-ray of the skeletal system conducted for bones, teeth, spine and skull or other parts depending upon the abnormality appear during physical examination,
  • Ultrasound is conducted to check the ovarian tumors
  • Genetic testing is conducted for determining involved genetic mutation3.


In Basal Cell Nevus Syndrome, multiple organs are involved. Therefore no specific treatment is available for treating Basal Cell Nevus Syndrome and a team of experts works together to plan the treatment for Basal Cell Nevus Syndrome affected the individual.

The treatment plan also may not be same for every individual, as it varies. Depending upon the Basal Cell Nevus Syndrome symptoms customized treatment plan is required.

  • If any patient has cancer, then oncologist is the primary doctor to treat the condition along with other healthcare professionals.
  • If the patient did not develop skin cancer, but skin condition becomes worsen, then regular dermatologist follow up treatment require to check the alteration and according to therapeutic managements.
  • Surgical intervention requires for jaw tumor.
  • Intellectual disability needs several supportive treatments including special education, physical therapy, speech therapy, occupational therapy and language therapy.
  • Altogether the goal of the treatment plan is to improve patient’s quality of life4.

 Basal Cell Nevus Syndrome Picture 1


The prognosis of the Basal Cell Nevus Syndrome depends upon how early it is detected. In the initial stage of cancerous development has good prognosis report. But in an advanced stage, Basal Cell Nevus Syndrome has poor prognosis4.

Life expectancy

The life expectancy of Basal Cell Nevus Syndrome is not significantly affected in case of no cancerous progression or early detection of the condition. But other associated symptoms like blindness, deafness can hamper the quality of life of the affected patient5.


  1. Daniel Berg. Nevoid Basal Cell Nevus Syndrome Carcinoma Syndrome. Mar 29, 2017.
  2. Gorlin syndrome. Genetic Home References;
  3. Nevoid basal cell carcinoma syndrome. MedlinePlus.
  4. Basal Cell Nevus Syndrome. Healthline.
  5. About Gorlin Syndrome. Gorlin Syndrome (Group). Last Updated on Sunday, 15 November 2015 15:18

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