Gorlin-Goltz syndrome, also known as the basal cell naevus syndrome, is a rare phakomatosis characterised by multiple odontogenic keratocysts (KOT), multiple . Gorlin and Goltz’s eponymous syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder. The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome— NBCCS) is a rare autosomal dominant syndrome caused due.
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Department of Pedodontics and Preventive Dentistry, D. Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias.
Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. Gorlin-Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance[ 1 ] and variable expressivity. More than minor criteria have been described. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis.
A year-old male patient reported to the outpatient wing of the D. He presented with insidious onset swelling of the left side of his face since two months, and pus discharge since 10 days from a sinus on the left side of his face, in the region overlying the third lower molar. The swelling was mildly painful since last 10 days. Pain was continuous, but dull in nature, with no radiation, aggravation, or relieving factors. He was born after a full-term pregnancy and thereafter had an unremarkable medical and dental history.
His weight was 30 kg and height was cm, which were normal for his age. Although the face was bilaterally symmetrical, the frontal view revealed flattening of the nasal bridge. Head circumference was 56 cm, whereas, the normal for a year-old boy is 54 cm. These swellings were present since birth.
Examination of extremities showed an accessory toe with syndactyly with the fifth digit of the right foot [ Figure 3 ]. Presence of a discharging sinus tract on the left side of the face was noted. On intraoral examination there were no carious teeth related to the external swelling and no intraoral swelling.
The Orthopantomogram OPG of the patient revealed bilateral radiolucent lesions associated with an unerupted third molar tooth in the ramus of the mandible [ Figure 4 ]. The chest radiograph showed a bifid fifth rib on the right side [ Figure 5 ]. The radiograph of the skull showed bilamellar calcification of the falx cerebri as well as hypertelorism. No skin lesions in the form of basal cell nevus, palmar or plantar pits, or keratosis were present.
No other anomalies of the skeletal, cardiovascular, or central nervous system were present. A diagnosis of Gorlin Goltz Syndrome was made. The parents of the patient were examined and underwent radiological evaluation; neither of them had any features of the Gorlin-Goltz syndrome. Both cystic lesions of the jaw were enucleated surgically. The histopathological examination of the enucleated tissue showed an odontogenic keratocyst on the right side [ Figure 6 ] and an odontogenic keratocyst with secondary infection on the left side.
The Gorlin-Goltz syndrome is an autosomal dominant inherited syndrome manifested by multiple defects involving the skin, nervous system, eyes, endocrine system, and bones.
It is also known as basal cell nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, or hereditary cutaneomandibular polyonocosis, multiple nevoid basal cell epethelioma-jaw cysts or bifid rib syndrome.
It was first reported by Jarisch and White inand later in detail by Gorlin and Goltz. Clinically this condition is characterized by different signs and symptoms.
Diagnosis is based on the most frequent and specific features of the syndrome as given by Evans et al. In our patient the diagnosis of the Gorlin-Goltz syndrome was established by the presence of three major criteria viz.
Incidence of the Gorlin-Goltz syndrome is estimated at 1 in 50, toin the general population. The reported review revealed that, to date, there are only seven cases of the Gorlin-Goltz syndrome reported from India, out of which only two were from North India, [ 1011 ] and five were from South India.
It has therefore been suggested that multiple OKCs alone may be confirmatory of the syndrome. The Gorlin-Goltz syndrome has equal predilection for either sex. Although benign, the recurrence rate after excision of OKC is high, ranging from 12 to The KCOT is locally destructive, despite its bland histological features. In the study, all odontogenic cysts have shown positive immunoreaction for the heparanase protein in various intensities. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients.
PTCH 1 is mapped to chromosome 9q PTCH 1 mutations have been identified in 13 patients: Thus genetic analysis allowed molecular confirmation of diagnosis in about half of all patients.
The Gorlin-Goltz syndrome is a well-known syndrome with a variety of findings in and outside the head and neck region. Early diagnosis is essential for detection of clinical and radiological manifestations in young patients and for provision of advice concerning protection of the skin from sunlight.
In its clinical management and follow up, the pedodontist, oral pathologist, maxillofacial surgeon, and several other medical specialists are involved. Interdisciplinary cooperation is mandatory for the diagnosis and follow-up control of patients with the Gorlin-Goltz syndrome. The Gorlin-Goltz syndrome is an autosomal dominant disorder with numerous diagnostic criteria, but only two major and one minor criteria or one major and three minor criteria are required to arrive at a diagnosis. The odontogenic keratocyst is frequently the presenting manifestation of this syndrome.
As this condition requires early diagnosis to prevent clinical progression and complication, the onus for this often lies with the dental teams.
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This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3. This article has been cited by other articles in PMC. Abstract Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Diagnosis, Gorlin-Goltz syndrome, odontogenic keratocyst. Open in a separate window.
Accessory toe with syndactily with 5 th digit of right foot. Basal cell nevus, other benign dermal cysts and tumors, palmar pitting, palmar and plantar keratosis, and synrome calcinosis.
Dental and osseous anomalies: Multiple odontogenic keratocysts OKCmild mandibular prognathism, frontal and temporoparietal bossing, kyphoscoliosis or other vertebral defects, bifurcated ribs, spina bifida, and brachymetacarpalism. Hypertelorism, wide nasal bridge, dystopia canthorum, congenital blindness, and internal strabismus.
Mental retardation, dural calcification, bridging of sella, agenesis of corpus callosum, congenital hydrocephalus, occurrence of medulloblastoma. Footnotes Source of Support: Nil Conflict grolin Interest: The multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a family.
Dentistry for the child and adolescent. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib.
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The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome.
Nevoid basal-cell carcinoma syndrome
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