Gorlin-Goltz Syndrome: Case report and literature review

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Abstract

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities.

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Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

B Pastakia, Alisa M. Goldstein, John DiGiovanna … (1997)

Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to > 1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include "coarse face" in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. Important radiological signs included calcification of the falx cerebri in 65%, of the tentorium cerebelli in 20%, bridged sella in 68%, bifid ribs in 26%, hemivertebrae in 15%, fusion of the vertebral bodies in 10%, and flame shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands in 30%. Several traits previously considered components of the syndrome (including short fourth metacarpal, scoliosis, cervical ribs and spina bifida occulta) were not found to be significantly increased in the affected individuals. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management.

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Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Lorenzo Lo Muzio (2008)

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure.

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Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

Janki Thakker, William Evans, S Roger Rimmer … (1993)

There are many potential complications which have been reported in association with the naevoid basal cell carcinoma syndrome. We have been able to show the relative frequencies of these problems in a population based study of 84 cases in the north west of England. The major complications of basal cell carcinomas and jaw cysts occur in over 90% of patients by 40 years of age, but may both occur before 10 years of age. Less well described complications are ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). This study more clearly defines the possible complications of the syndrome and gives clearer guidelines for counselling and screening affected and at risk persons.

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Author and article information

Journal

Journal ID (nlm-ta): J Oral Maxillofac Pathol

Journal ID (iso-abbrev): J Oral Maxillofac Pathol

Journal ID (publisher-id): JOMFP

Title: Journal of Oral and Maxillofacial Pathology : JOMFP

Publisher: Medknow Publications & Media Pvt Ltd (India )

ISSN (Print): 0973-029X

ISSN (Electronic): 1998-393X

Publication date (Print): May-Aug 2015

Volume: 19

Issue: 2

Page: 267

Affiliations

[1] Department of Oral Pathology, Vinayaka Mission's Sankarachariyar Dental College, Salem, Tamil Nadu, India

[1 ] Department of Pedodontics and Preventive Dentistry, Vinayaka Mission's Sankarachariyar Dental College, Salem, Tamil Nadu, India

[2 ] Department of Pedodontics and Preventive Dentistry, Goa Dental College and Hospital, Bambolim, Goa, India

[3 ] Dental Polyclinic and Maxillofacial Centre, Salem, Tamil Nadu, India

Author notes

Address for correspondence: Dr. Maya Ramesh, Reader, Department of Oral Pathology, Vinayaka Mission's Sankarachariyar Dental College, Salem, Tamil Nadu, India. E-mail: mayaramesh96@ 123456gmail.com

Article

Publisher ID: JOMFP-19-267a

DOI: 10.4103/0973-029X.164557

PMC ID: 4611943

PubMed ID: 26604511

SO-VID: 58135bf8-8da7-44fd-a3c1-08804c53eecd

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Gorlin-Goltz Syndrome: Case report and literature review

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Most cited references 77

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

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