scholarly journals Gorlin-Goltz Syndrome: Case Report of a Rare Hereditary Disorder

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Ashutosh Agrawal ◽  
Aditi Murari ◽  
Sunil Vutukuri ◽  
Arun Singh
Keyword(s):  
Case Report ◽  
Basal Cell ◽  
Health Professionals ◽  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Complete Penetrance ◽  
Goltz Syndrome ◽  
Minor Criteria ◽  
Prompt Diagnosis

Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity.Case Report. The present paper highlights the importance of diagnostic criteria and histopathology in early and prompt diagnosis which will lead to proper treatment and genetic counseling of the patient.Discussion. Gorlin-Goltz syndrome is about multisystem process comprising the triad of basal cell nevi, jaw keratocysts, and skeletal anomalies. A spectrum of other neurological, ophthalmic, endocrine and genital manifestations is known to be variably associated with this triad. Diagnosis of the syndrome is based on major and minor criteria.Conclusion. This paper emphasizes the importance of oral and maxillofacial health professionals in the early diagnosis of nevoid basal cell carcinoma syndrome and in a preventive multidisciplinary approach to provide a better prognosis to the patient.

scholarly journals Gorlin Goltz syndrome: a rare case report

2020 ◽  
Vol 8 (7) ◽  
pp. 2681
Author(s):  
Nitisha A. Jain ◽  
Vasantkumar J. Rathod ◽  
Mily S. Gandhi ◽  
Anshul P. Ghai
Keyword(s):  
Autosomal Dominant ◽  
Preventive Treatment ◽  
Autosomal Dominant Trait ◽  
Falx Cerebri ◽  
Complete Penetrance ◽  
Goltz Syndrome ◽  
Rare Case Report ◽  
Multisystemic Disease ◽  
Sporadic Cases ◽  
Minor Criteria

Gorlin-Goltz syndrome is uncommon multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. We report a case of 18 years old male patient having features of Gorlin Goltz syndrome. Gorlin-Goltz syndrome is characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and/or plantar pits, calcification of the falx cerebri, and is associated with internal malignancies. It is important to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome.

scholarly journals Gorlin-Goltz Syndrome - An Unusual Case Report

2016 ◽  
Vol 5 (1) ◽  
pp. 1071
Author(s):  
B. Thayumanavan ◽  
T. Jeyanthikumari ◽  
P. Meghalapriya
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Autosomal Dominant ◽  
Keratocystic Odontogenic Tumor ◽  
Review Of Literature ◽  
Autosomal Dominant Disorder ◽  
Goltz Syndrome ◽  
Multisystemic Disease ◽  
Consistent Feature ◽  
Unusual Case Report

Gorlin-Goltz syndrome is an uncommon autosomal dominant disorder manifesting as a multisystemic disease. Keratocystic odontogenic tumor (KCOT) is considered as the most consistent feature of this syndrome. Dentists play a key role in making early diagnosis of this syndrome. Here we present a case of Gorlin- Goltz syndrome identified by multiple multilocular radiolucencies in the mandible. A review of literature of different diagnostic criteria for Gorlin-Goltz syndrome is also discussed.

scholarly journals Radiological Findings of Gorlin Syndrome-A Case Report

2013 ◽  
Vol 3 (1) ◽  
pp. 94-98
Author(s):  
S Maohakud ◽  
G Sharma ◽  
Hira Lal ◽  
J Mohanty
Keyword(s):  
Basal Cell ◽  
Autosomal Dominant ◽  
Sella Turcica ◽  
Skin Lesions ◽  
Chest Wall Deformity ◽  
Radiological Findings ◽  
Autosomal Dominant Disorder ◽  
Falx Cerebri ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas

Basal cell nevus (Gorlin-Goltz) syndrome is a rare autosomal dominant disorder with multiple developmental anomalies and predisposition to various neoplasms. We present a 60 year old male with pigmented, ulcerated skin lesions in face, neck and trunk, histologically proved to be basal cell carcinomas. Mild exopthalmos, hypertelorism, chest wall deformity & scoliosis were noted. Radiological imaging showed calcification of falx cerebri & tentorium cerebelli, bridging of sella turcica, right third, fourth and fifth bifid ribs, scoliosis of lumbar spine, odontogenic keratocyst of mandible and flame shaped lucencies in hands. Nepalese Journal of Radiology / Vol.3 / No.1 / Issue 4 / Jan-June, 2013 / 94-98 DOI: http://dx.doi.org/10.3126/njr.v3i1.8821

scholarly journals Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome

1970 ◽  
Vol 7 (4) ◽  
pp. 414-418
Author(s):  
S Dixit ◽  
S Acharya ◽  
PB Dixit
Keyword(s):  
Medical Journal ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Falx Cerebri ◽  
Lower Jaw ◽  
Odontogenic Keratocysts ◽  
Goltz Syndrome

Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder with a predisposition to cancer. Features like basal cell carcinoma, odontogenic keratocysts, calcification of falx cerebri, bifid ribs, pits on palms and soles and hypertelorism are evident. A case of this rare disease seen on a 13 year old female patient is presented here, where multiple odontogenic keratocysts were causing disfigurement of the lower jaw as well as displacement and malocclusion of the lower teeth. Key words: Nevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome; Odentogenic keratocyst; Calcification of falx cerebri. DOI: 10.3126/kumj.v7i4.2765 Kathmandu University Medical Journal (2009) Vol.7, No.4 Issue 28, 414-418

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

scholarly journals Gorlin's Syndrome: Case Report and Management Protocol

2009 ◽  
Vol 12 (1) ◽  
pp. 61-64
Author(s):  
R Rosti ◽  
A Irem ◽  
H Kayserili ◽  
S Yalcin
Keyword(s):  
Case Report ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
The Body ◽  
Facial Appearance ◽  
Management Protocol ◽  
Gorlin’S Syndrome ◽  
Basal Cell Carcinomas ◽  
Gorlin's Syndrome ◽  
Multiple Basal Cell Carcinomas

Gorlin's Syndrome: Case Report and Management ProtocolGorlin's syndrome (GS) is a rare autosomal, dominant syndrome, characterized by multiple basal cell carcinomas, odontogenic keratocysts, a characteristic facial appearance, skeletal anomalies and malignancies of various organs throughout the body. We describe a 14-year-old girl with GS and propose a management protocol.

Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report

2016 ◽  
Vol 58 (2) ◽  
pp. e48-e50 ◽  
Author(s):  
Alice Casari ◽  
Giuseppe Argenziano ◽  
Elvira Moscarella ◽  
Aimilios Lallas ◽  
Caterina Longo
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Goltz Syndrome

scholarly journals Piebaldism in a 3-month-old infant: Case report

2014 ◽  
Vol 67 (3-4) ◽  
pp. 109-110
Author(s):  
Olgica Milankov ◽  
Radojica Savic ◽  
Anica Radulovic
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Male Infant ◽  
Congenital Absence ◽  
Skin Involvement ◽  
Left Forearm ◽  
Autosomal Dominant Disorder ◽  
And Migration ◽  
Infant Case

Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ? month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy?s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.

scholarly journals Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association

2015 ◽  
Vol 7 (1) ◽  
pp. 79-81 ◽  
Author(s):  
R Goel ◽  
S A Bodh ◽  
K Sardana ◽  
A Goel
Keyword(s):  
Dry Eye ◽  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Symptomatic Treatment ◽  
Autosomal Dominant Disorder ◽  
Course Of Disease ◽  
Rare Association ◽  
Indian Girl ◽  
Salzmann’S Nodular Degeneration

Background: Dermatopathia pigmentosa reticularis (DPR) is a very rare autosomal dominant disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia and onychodystrophy. Objective: To describe the occurrence of Salzmann’s nodular degeneration of cornea with moderate dry eye in a patient with Dermatopathia pigmentosa reticularis.Case: We present an 11 year old young Indian girl with DPR who had Salzmann’s nodular degeneration of cornea with moderate dry eye. She was put on symptomatic treatment and counseled regarding the course of disease, familial nature and avoidance of exposure to sun. Conclusion: In a patient of Salzmann`s nodular degeneration with generalized reticulate hyperpigmentation, noncicatricial alopecia and onychodystrophy the diagnosis of DPR must be kept in mind. A multidisciplinary approach is required for the management of such cases.

scholarly journals Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Stephanie Sobrepera ◽  
Eric Monroe ◽  
Joseph J. Gemmete ◽  
Danial Hallam ◽  
Jason W. Pinchot ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Massive Hemorrhage ◽  
Endovascular Management ◽  
Autosomal Dominant Disorder ◽  
Screening Guidelines ◽  
Organ Systems ◽  
Arteries And Veins

AbstractHereditary hemorrhagic telangiectasia (HHT) is a disorder that affects 1 in 5000–10,000 people worldwide and can result in devastating complications such as cerebral abscess, stroke, massive hemorrhage, and even death. HHT is an autosomal dominant disorder that leads to the formation of abnormal communication between the arteries and veins with a resultant spectrum of vascular anomalies. The disorder affects many organ systems and thus requires a dedicated multidisciplinary approach. Interventional radiologists are vital members of this team providing expertise not only in disease management, but in complex embolotherapy, helping to maintain the health of these patients. This article reviews clinical manifestations, screening guidelines, diagnostic criteria, and endovascular management of HHT.

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