Metrics details. The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome NBCCS , is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors KCOT in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations.
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Nevoid basal-cell carcinoma syndrome NBCCS , is an inherited medical condition involving defects within multiple body systems such as the skin , nervous system , eyes , endocrine system , and bones. The name Gorlin syndrome refers to the American oral pathologist and human geneticist Robert J.
Gorlin — Goltz —  was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'. First described in by Gorlin and Goltz,  NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,—, population.
Some or all of the following may be seen in someone with Gorlin syndrome: [ citation needed ]. Mutations in the human homologue of Drosophila patched PTCH1 , a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome.
People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult.
They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.
Treatment is usually supportive treatment , that is, treatment to reduce any symptoms rather than to cure the condition.
One aspect of NBCCS is that basal-cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmar and plantar pits. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.
From Wikipedia, the free encyclopedia. Am J Med Genet. Robert J. Gorlin — Pantheon der Dermatologie. In memoriam: Robert W. Goltz A syndrome". N Engl J Med. Bibcode : Sci Cell surface receptor deficiencies. PTH1R Jansen's metaphyseal chondrodysplasia. CASR Familial hypocalciuric hypercalcemia.
Basal-cell nevus syndrome , Multiple basal-cell carcinoma syndrome , Gorlin syndrome , and Gorlin—Goltz syndrome. Medical genetics.
Gorlin–Goltz syndrome: An often missed diagnosis
The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. GGS, also known as nevoid basal cell carcinoma syndrome NBCCS , is an infrequent multisystemic disease with an autosomal dominant trait, with a complete penetrance and variable expressivity, though sporadic cases have been described [ 1 , 2 ].
Nevoid basal-cell carcinoma syndrome
Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature. Gorlin—Goltz syndrome or nevoid basal cell carcinoma syndrome NBCCS is an autosomal dominant condition with high variability in expression. It is a highly penetrant genetic disorder.
Early diagnosis of Gorlin-Goltz syndrome: case report
It is estimated to affect an average of 1 in 60, people worldwide, with a predilection for Caucasians, but occurs at equal rates between the sexes. PTCH1 is located on chromosome 9q Twenty-six percent of patients develop ocular abnormalities. Mohs microsurgical excision is the mainstay of treatment for BCCs.
It is an autosomal dominant syndrome with complete penetrance and variable expressivity. It is related to a mutation in the PTCH tumor suppressor gene on chromosome 9, which encodes for the "Sonic Hedgehog" receptor 3. Individuals with the syndrome are sensitive to ionizing radiation, with one study showing accumulation of p53 in exposed cells 3. Patients with Gorlin syndrome may be hypersensitive to and contraindicated from receiving radiation therapy. A clinical diagnosis can be made using major and minor criteria.