Author(s)

Bastos Lima P.¹, Januário C.², Reis J.P.^3. 1- Neuroradiology department; 2- Neurology Dept; 3- Dermatology Dept. Coimbra University Hospitals

Patient

male, 25 year(s)

Young male with multiple skin and scalp lesions and some months of evolution suspected of being basal cell carcinoma. Earlier surgeries were done to remove odontogenic Keratocysts. Post studies have been undertaken to find out Nevoid Basal Cell Carcinoma Syndrome.

Young male reported multiple skin and scalp translucent papular and nodular lesions with some months of evolution suggesting basal cell carcinoma. After clinical examination were found: -frontal bossing; -congenit cataract on the right eye; -arched palate; -teeth not correctly aligned difficulting mouth occlusion and slightly asymetric palmar pits. On neurological examination, he had serious dicreased of visual acuity on the right eye, limitation of all right eye movements and asymmetric muscles reflexes – high reflex on right side. Earlier surgeries were done to remove odontogenic Keratocysts. No familiars with known disorders (phenotype features). Gathering all the objective signs described before, possible Gorlin-Goltz Syndrome diagnosis was assumed. Therefore, complementary exams were done. Biopsy of multiple skin lesions confirmed histologic features of nevoid basal cell carcinomas. Skeletal radiographies revealed slight osteopenia of thoracic and lumbar spine to the mentioned etary group; no other abnormalities found. Ecocardiogram and abdominal ultrasound were normal. Brain CT showed calcification of the falx cerebri, tentorium cerebelli and choroid plexus. Face CT showed odontogenic keratocyst on the right jaw. Brain MR (follow-up) confirmed multiple endocranial calcifications, without evidence of other abnormalities (particularly expansive lesions). Face MR as CT suggested odontogenic keratocyst, proved by biopsy results.

The diagnosis of the Gorlin- Goltz Syndrom or NBCCS is made in the presence of 2 major criteria or 1 major plus 2 minor criteria. The major criteria are based on the following items: (1) more than 2
basal cell carcinomas (BCC) or 1 BCC in patients younger than 20 years; (2) odontogenic keratocysts of the jaw (proven by histologic analysis); (3) 3 or more palmar or plantar pits; (4) bilamellar
calcification of the falx cerebri; (5) bifid, fused, or markedly splayed ribs; and (6) first-degree relative with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). The minor criteria include the
following items: (1) macrocephaly; (2) congenital malformations, such as cleft lip or palate, frontal bossing, coarse facies, and moderate or severe hypertelorism; (3) other skeletal abnormalities,
such as Sprengel deformity, marked pectus deformity, and marked syndactyly of the digits; (4) radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects of
the hands and feet, or flame-shaped lucencies of the hands and the feet; and (5) ovarian fibroma or medulloblastoma. In this patient was found multiple basal cell carcinomas, odontogenic keratocyst
and lamellar calcification of the falx cerebri (as the 3 major criteria) and frontal bossing and ocular anomalies (as the 2 minor criteria). In this young male with these kind of specific findings
(clinical and imaging data), we can conclude that he has Gorlin-Goltz Syndrome. Nevoid basal cell carcinoma syndrome (NBCCS) , also known as basal cell nevus syndrome or Gorlin syndrome, is an
inherited disorder with an autosomal dominant pattern showing high penetrance but extremely variable expressivity. The genetic mutations responsible for inducing NBCCS have been localized to gene
locus 9 (9q22.3-q31) of the human PTC gene (PTCH).No sex prevalence. Comprises multiple cutaneous nodules which tend to become malignant in early adulthood, together with other developmental and
systemic defects. The syndrome comprises a number of features that are classically grouped into five categories: cutaneous, skeletal, ophthalmologic, neurologic, and sexual. The multiple jaw cysts
develop early in childhood. Nevoid basal cell carcinomas tend to appear later than cysts, usually before 30 years of age. Almost any of the body’s organ systems may be affected. A major
complication of the disease is the enormous number of BCC lesions and their high risk of invasion of deep structures, especially when located in sun exposed skin areas such as the head and neck.
Lesions sometimes occur before 10 years of age. One of the most challenges of this syndrome is tryng an early diagnosis, attendance that many anomalies can be subtils and grow up with age. An huge group of patients are particularly sensitive to ionizing radiation and ultraviolet light exposure with high tendency to develop multiple neoplasms like basal and medulloblastoma. The gravity of this
syndrome is due to its potential carcinogenic and so it is very important an early diagnosis as well as maintain a regular surveillance of the patients. Early mortality is rare (10%), being the medulloblastoma as potential cause of.