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: Gorlin-Goltz syndrome (GGS) also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal-dominant disorder characterized mainly by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts of the jaw and palmar pits. This syndrome is associated with a wide spectrum of developmental anomalies and neoplasms. A case of...
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... of the jaws. Physical examination showed the patients were tall of stature -180 and 185 cm respectively. Pathological changes affecting cardio-vascular, respiratory and the neural systems were not observed. Dermatological status in the daughter revealed multiple nodular basal cell carcinomas on the skin of her forehead, nose and temporal bone ( fig. 1). She had multiple pigmented nevi on her trunk and many pits on her palms too. These pits had a characteristic dermoscopy with red globules mainly distributed inside the flesh-colored and slightly depressed lesions ( fig.2, 3). Dermatological status in the mother showed multiple nodular basal cell carcinomas on the forehead, nose and ...
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Gorlin-Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance. It is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and plantar pits and ectopic calcifications of falx cerebri. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagn...
Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends...
Citations
... a tumor suppressor gene that is considered mutated and responsible for the malformations associated with Gorlin-Goltz syndromes. 13,14,15 The gene was first isolated in 1996 as the human homologue of the Drosophilia PTCH1 gene in the United States and Australia about the same time. In 1960, Robert James Gorlin and William Goltz gave a complete description of the syndrome as one that is associated with a wide spectrum of developmental anomalies and neoplasms. ...
... In 1960, Robert James Gorlin and William Goltz gave a complete description of the syndrome as one that is associated with a wide spectrum of developmental anomalies and neoplasms. 13 NBCCS is essentially a clinical and radiologic diagnosis. Kimonis et al., 17 in 1997 modified the major and minor criteria for the diagnosis previously established by Evans et al., 11,13,16 (Figure VII). ...
... 13 NBCCS is essentially a clinical and radiologic diagnosis. Kimonis et al., 17 in 1997 modified the major and minor criteria for the diagnosis previously established by Evans et al., 11,13,16 (Figure VII). These diagnostic criteria include the presence of two major signs or one major with two minor signs to diagnose nevoid basal cell carcinoma syndrome. ...
ABSTRACT
Nevoid basal cell carcinoma syndrome also
known as Gorlin-Goltz syndrome, is an
uncommon multisystem disease with an
autosomal dominant trait, as well as a high
degree
of
penetrance
and
variable
expressivity. It is characterized by a wide
range of developmental abnormalities and
predisposition to neoplastic change. The
main
clinical
manifestations
include
numerous basal
cell
nevi,
odontogenic
keratocysts of the jaws, musculoskeletal
abnormalities,
intracranial
ectopic
calcifications, as well as facial dimorphism
and ophthalmologic abnormalities. Clinical
diagnosis of this disease relies on certain
criteria. Early detection of the syndrome is
very vital as the disease becomes more
destructive with age apart from its high
susceptibility
to
neoplastic
change.
Management requires a multidisciplinary
approach. Surgical removal is the mainstay
of treatment.
... Genetic study was offered to the patient . The genealogical analysis is im-portant for the determination of the genetic risk and the prognosis for the patients' relatives [8]. ...
... Clinically, two major and one minor criterion were present in our patient. Ovarian cysts and fibromas are found in 25-50% of women with this syndrome, and they frequently occur bilaterally (75%) [8]. The patient presented with calcified right-sided ovarian fibromas and bilateral ovarian cysts. ...
... Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare multisystem disease with an autosomal dominant inheritance, high penetrance, and variable expressivity [1,2]. GGS shows a predisposition to neoplasms and other developmental abnormalities. ...
... GGS shows a predisposition to neoplasms and other developmental abnormalities. The estimated prevalence varies from 1/57,000 to 1/256,000 among various studies, with a male-to-female ratio of 1:1 [2]. The first report of the syndrome was in 1894 by Jarisch and White in a patient with multiple basal cell carcinomas, scoliosis, and learning disability. ...
... Interestingly, the syndrome exhibits abnormalities similar to those seen in people exposed for long periods to UV radiation. Several different mutations of the PTCH1 gene have been identified in patients with GGS and may be responsible for its variable expressivity [2,3]. ...
The Gorlin-Goltz syndrome or (the nevoid
basal cell carcinoma syndrome) is a rare
autosomal dominant syndrome with
multiple organ involvements. The common
manifestations include multiple
odontogenic keratocysts in the jaws,
multiple basal cell nevi on the skin with an
early age onset, palmar pits, bifid or splayed
ribs, high arched palate, euryopia, areas of
hyper-pigmentation in the upper eyelid of
left eye and dorsal surface of hands, calcified
diaphragma sellae, and calcifications of the
falx cerebri. In this case report, we report the
only case of Gorlin-Goltz syndrome in the
Jammu-Kashmir region in a young 20-year�old female patient.
... Yordanova et al. [11] in 2007 reported a case of familial GGS in a 29-year-old woman and her 50-year-old mother from Pleven, Bulgaria. Gupta et al. [12] in their study of six cases described that the frequency of clinical and radiological features of GGS in Indian patients differs from other ethnic groups. ...
Gorlin–Goltz syndrome (GGS) also known as the nevoid basal cell carcinoma syndrome or the nevus–Bifid rib syndrome is an inherited autosomal dominant syndrome. It is caused by genetic alteration produced by a mutation in the “patched” tumor suppressor gene. This rare syndrome is characterized by basal cell carcinoma of skin, multiple odontogenic keratocyst and bifid ribs along with other features such as hypertelorism, sex organ abnormalities, palmar and/or plantar pits and calcification of falx cerebri. Early
detection and treatment are essential for patients suffering from this syndrome. Only a few cases of this syndrome with familial background have been reported from India. In this study, we present a rare case of GGS in a mother and her daughter. The purpose of this study is to discuss the role of a dentist in early detection and the need for a multidisciplinary approach for the treatment of this syndrome.
... Gorlin-Goltz syndrome (GGS) is an uncommon, autosomal dominant inherited disorder known as nevoid basal cell carcinoma syndrome (NBCCS) [1]. This syndrome characterized mainly by the presence of multiple basal cell carcinomas, odontogenic keratocysts of the jaw and palmar and plantar epidermal pits also associated with a wide spectrum of developmental anomalies and neoplasms [2], hypertelorism, calcification of falx cerebri, palmer and planter pits, central nervous system, ocular lesions, rib anomalies, mandibular prognathism (class III jaw relationship), cleft lip and palate Other findings of this syndrome in rare cases ovarian fibromas [3]. Early diagnosis In the case of NBCCS it is of great importance to reduce the severity of complications, such as malignant skin and brain tumors and maxillofacial deformities related to the jaw cysts can be avoided [4]. ...
Gorlin-Goltz syndrome, is an uncommon, autosomal dominant inherited disorder, which is characterized by numerous basal cell
carcinoma (known as nevoid basal cell carcinoma syndrome (NBCCS)). The common manifestations include multiple odontogenic
keratocysts in the jaws are usually one of the first manifestations of the syndrome, macrocephaly, frontal boosing, multiple basal cell
nevi on the skin with an early age onset, palmar pits, bifid or splayed ribs, high arched palate, calcified diaphragm sellae, calcifications
of the falx cerebri. Although all the manifestations may not be present in all the patients. We reported here a child patient, a 8-year-old
child boy visited maxillofacial department in Rizgary teaching hospital for right premaxillary swelling emphasizing its clinical and
radiographic manifestations of Gorlin -Goltz syndrome with no family history, the patient has multiple odontogenic keratocysts, rib
anomalies, calcifications of the falx cerebri, frontal and temporal boosing, macrocephaly and thick eye brows. This study highlights
the importance of maxillofacial surgeon in the early diagnosis, treatment and closes follow up is important to prevent long-term
complication including malignancy and oromaxillofacial deformation and destruction.
... It is characterized mainly mainly characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts of the jaw and palmar pits and is also associated with a wide spectrum of developmental anomalies and neoplasms, hypertelorism, calcification of the falx cerebri, palmer and planter pits, central nervous system defects, ocular lesions, rib anomalies, mandibular prognathism (class III jaw relationship), cleft lip, and palate. Other findings of this syndrome in rare cases include ovarian fibromas (6,7). The oral and maxillofacial surgeon has the main role in diagnosing the syndrome because multiple odontogenic keratocysts are the first manifestations of this syndrome (8). ...
Introduction:
Gorlin-Goltz syndrome (GGS), also known as basal cell nevus syndrome, is a very rare autosomal dominant inherited disorder that is characterized by the development of numerous basal cell carcinoma. This article reports a case of GGS, emphasizing its clinical and radiographic manifestations.
Case presentation:
We report here the case of a 35-year-old man who visited the maxillofacial emergency department due to left facial swelling. According to his clinical and radiographic examination we diagnosed him with GGS with no family history. The patient has multiple odontogenic keratocysts, rib anomalies, calcifications of the falx cerebri, lower jaw prognathism, frontal bossing, macrocephaly, and thick eyebrows.
Conclusion:
A definitive diagnosis of GGS should be made by a multidisciplinary team including a maxillofacial surgeon and medical specialists. Early diagnosis, treatment, and regular follow up are important to decrease complications, including oromaxillofacial deformation and destruction, and possible malignancy.
... Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder with extremely variable manifestations. It is a rare disease that is characterized by multisystem involvement; with a predisposition to cysts, neoplasms & other developmental abnormalities [1]. In 1894 Jarisch and White were the first to describe the essential features of this syndrome and termed it as nevoid basal cell carcinoma syndrome [2,3]. ...
Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings. A review of the diagnostic criteria is also presented.
... Individuals with no known affected family members may comprise upto 60% of all affected individuals. 4 The prevalence of GorlineGoltz syndrome has been estimated about 1 per 60,000. 3,11,12 Some serious neurological anomalies which may form a part of this syndrome include agenesis of the corpus callosum & medulloblastoma. ...
Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographical examinations in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article describes an 11-year-old boy with GS.
... 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]. GGS shows a predisposition to neoplasms and other developmental abnormalities. ...
... GGS shows a predisposition to neoplasms and other developmental abnormalities. The estimated prevalence varies from 1/57,000 to 1/256,000 among various studies, with a male-to-female ratio of 1 : 1 [2]. The first report of the syndrome was made in 1894 by Jarisch and White in a patient with multiple basal cell carcinomas, scoliosis, and learning disability. ...
... The syndrome exhibits abnormalities similar to those seen in people exposed for long periods to UV radiation. Several different mutations of the PTCH1 gene have also been identified in patients with GGS [2, 3]. It is important to establish an earlier diagnosis to prevent fatal consequences, due to multiple skin cancers and other tumors associated with the syndrome [8]. ...
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. 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.
... Surgical treatments, including cryotherapy, electrodessication and curettage, simple excision, and Mohs micrographic surgery are used for most lesions. Topical therapy with retinoid cream, imiquimod cream, and 5-flourouracil cream may be used in treatment of superficial and multiple BCCs lesions2. Treatment with oral retinoid may suppress the new BCCs lesions and result in reduction of symptoms. ...
... Patients with this syndrome often have anomalies of multiple organs, such as abnormalities of the skin, skeleton, and nervous system. This disorder is characterized by variable clinical manifestations, including multiple Basal cell carcinomas (BCCs); odontogenic keratocysts of the jaw or a polyostotic bone cyst; pitted depression on the palms and soles; skeletal anomalies, including bifid, fused rib or vertebrae, and scoliosis; congenital malformation, including cleft lip or palate, microphthalmos, and polydactyly; central nervous system abnormalities, including lamellar or early calcification of the falx cerebri, and medulloblastoma in childhood2,3. Germline mutations in the PTCH gene on chromosome 9q23 have been found in 35~50% of patients. The PTCH gene is known to be important in developmental abnormalities, segmentation, and growth regulation. ...
Basal cell nevus syndrome (BCNS), or Gorlin Syndrome, is an autosomal dominant disorder, characterized by multiple developmental abnormalities and associated with germline mutations in the PTCH gene. Patients show multiple and early onset basal cell carcinomas (BCCs) in skin, odontogeniccysts in the jaw, pits on palms and soles, medulloblastoma, hypertelorism, and calcification of the falx cerebri. Clinical features of BCCs in these patients are indistinguishable from ordinary BCCs. However, some patients show variable histologic findings in subtypes of BCCs, and only one case associated with several histologic types of BCCs in the syndrome has been reported in Korea. We present a case of BCNS characterized by multiple BCCs, odontogenic keratocysts, multiple palmar pits, and calcified falx cerebri. Histopathologic findings of BCCs showed several patterns, which were nodular, superficial, and pigmented types.
