Tuberous sclerosis with primary meningioma of the maxillary antrum

1991 ◽  
Vol 105 (6) ◽  
pp. 481-483 ◽  
Author(s):  
R. M. Irving ◽  
G. R. Ford ◽  
N. S. Jones
Keyword(s):  
Connective Tissue ◽  
Parotid Gland ◽  
Tuberous Sclerosis ◽  
Paranasal Sinuses ◽  
Autosomal Dominant ◽  
Parapharyngeal Space ◽  
Maxillary Antrum ◽  
First Case ◽  
Neurocutaneous Syndrome

AbstractPrimary extracranial meningiomas are uncommon; they have been documented in the ear, skin, orbit, parapharyngeal space, parotid gland, mediastinum, and rarely the paranasal sinuses. Tuberoussclerosis is an autosomal dominant neurocutaneous syndrome characterized by multiple connective tissue tumours. We report the first case of a tuberous sclerosis patient with a maxillary antral meningioma.

scholarly journals Intraductal Carcinoma of the Parotid Gland Presenting as Parapharyngeal Mass

2020 ◽  
Vol 5 (3) ◽  
pp. 1-7
Author(s):  
Yamato Oki ◽  
Hiromitsu Hatakeyama ◽  
Masako Otani ◽  
Hidetaka Ikemiyagi ◽  
Masanori Komatsu ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Parotid Gland ◽  
Salivary Glands ◽  
Parapharyngeal Space ◽  
Malignant Tumors ◽  
Relevant Literature ◽  
Ct Scans ◽  
Intraductal Carcinoma ◽  
First Case

Intraductal carcinomas are rare, malignant tumors that arise from the salivary glands. They commonly grow from the parotid gland and no cases growing from the parapharyngeal space have been reported to date. We report a 76-year-old man who was inadvertently found to have a parapharyngeal lesion by CT scans and MR imaging. The tumor was resected through an upper neck approach and diagnosed histopathologically as intraductal carcinoma. As far as we are aware, this is the first case of intraductal carcinoma arising from the parapharyngeal space. Here, we describe the management of this disease together with a review of the relevant literature.

scholarly journals Tale of a Teenager: A Case Report of Tuberous Sclerosis

2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Dominant Inheritance ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

scholarly journals Families with neurocutaneous syndromea - Report of two cases

2013 ◽  
Vol 22 (1) ◽  
pp. 102-107
Author(s):  
Radheshyam Saha ◽  
Reaz Mahmud ◽  
Mohammad Zaid Hossain ◽  
Prodip Kumar Sarkar
Keyword(s):  
Status Epilepticus ◽  
Family History ◽  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Medical College ◽  
First Case ◽  
Neurocutaneous Disorder ◽  
History Of

 CorrigendumThe Article "Families with neurocutaneous syndromea - Report of two Cases" was published in JDMC Vol.22(1) in April 2013. The name of one of the authors was written 'Prodip Kumar Sarker', which is to be read as 'Prodip Kumar Sarkar'. (4th August 2014)Neurocutaneus syndrome is inherited as autosomal dominant condition.Tuberous sclerosis is one of the important neurocutaneous disorder characterized by development of widespread hamartomatous lesions involving skin, brain, kidney, retina etc. Recently we came across two cases of tuberous sclerosis. Both cases presented with status epilepticus and had a positive family history but the first case also had family history of neurofibromatosis. DOI: http://dx.doi.org/10.3329/jdmc.v22i1.15709 J Dhaka Medical College, Vol. 22, No. 1, April, 2013, Page 102-107

scholarly journals Tuberous sclerosis complex

2012 ◽  
Vol 87 (2) ◽  
pp. 184-196 ◽  
Author(s):  
Daniela Araujo Rodrigues ◽  
Ciro Martins Gomes ◽  
Izelda Maria Carvalho Costa
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Multisystem Disorder ◽  
Therapeutic Trials ◽  
Multiple Organs ◽  
Tissue Replacement ◽  
History Of ◽  
Neurocutaneous Syndrome ◽  
Made In

Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.

scholarly journals Tuberous Sclerosis Complex in a Family

1970 ◽  
Vol 11 (1) ◽  
pp. 94-98
Author(s):  
Md Azizul Haque ◽  
Laila Shamima Sharmi ◽  
ARM Saifuddin Ekram ◽  
Md Saiful Islam
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Variable Degree ◽  
Popular Belief ◽  
Neurocutaneous Disorder ◽  
Neurocutaneous Syndrome

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is an autosomal dominant, multisystem, neurocutaneous disorder characterized by development of widespread hamartomatous lesions involving skin, brain, kidney, retina etc. Contrary to the popular belief, the disease has variable degree of expressivity and not all patients have the severe debilitating form. We report two cases of tuberous sclerosis complex in a family and then the literature is reviewed. Keywords: Tuberous sclerosis, neurocutaneous syndrome, hamartoma, phakomatosis DOI:10.3329/jom.v11i1.4284 J Medicine 2010: 11: 94-98

scholarly journals Diverse presentation of connective tissue disorders in pregnancy

2021 ◽  
Vol 10 (4) ◽  
pp. 1681
Author(s):  
Mini Bedi ◽  
Sandeep Kaur ◽  
Prashant Patil ◽  
Kamaljeet Kaur ◽  
Harbhajan Kaur ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Tuberous Sclerosis ◽  
Connective Tissue Disorders ◽  
Childbearing Age ◽  
First Case ◽  
Precise Knowledge ◽  
Autoimmune Conditions ◽  
Important Challenge ◽  
Preconception Counselling ◽  
In Pregnancy

Connective tissue disorders (CTD) include a variety of chronic multisystem disorders including autoimmune conditions. Many of these conditions affect women of childbearing age and therefore pregnancy poses an important challenge for the caregivers. The precise knowledge of therapeutic safety and the effect of disease on pregnancy and vice versa are important to achieve best outcome. Hence, it is imperative to have a vast knowledge of disease with proper preconception counselling. We report series of cases of connective tissue disorders in pregnancy: tuberous sclerosis (TS), systemic lupus erythmatosis (SLE) and neurofibromatosis (NF) type 1. The first case with tuberous sclerosis was associated with obstetric complications. In both cases of SLE, we observed preterm delivery and IUGR. However, the course of SLE remained the same in both the cases. The case with NF 1 taught us that a normal obstetric outcome could be expected in pregnant women.

Thoracic Disc Herniation and Paraplegia in Stickler's Syndrome

Neurosurgery ◽  
1989 ◽  
Vol 24 (6) ◽  
pp. 909-912 ◽  
Author(s):  
H. L. Harkey ◽  
E. T. Cullom ◽  
A. D. Parent
Keyword(s):  
Connective Tissue ◽  
Vertebral Body ◽  
Disc Herniation ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Thoracic Disc Herniation ◽  
First Case ◽  
Epiphyseal Dysplasia ◽  
Thoracic Disc ◽  
Node Formation

ABSTRACT Stickler's syndrome, an autosomal dominant connective tissue disorder, is characterized by progressive ophthalmic, orofacial, and skeletal abnormalities. Epiphyseal dysplasia is seen in this syndrome and affects the spine, causing anterior vertebral body wedging and Schmorl's node formation. These spinal abnormalities are usually asymptomatic. We report here the first case of thoracic disc herniation and paraplegia associated with Stickler's syndrome.

scholarly journals TUBEROUS SCLEROSIS : ITS VARIED PRESENTATION

2020 ◽  
pp. 1-2
Author(s):  
Puja D. Nandaniya
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Benign Tumors ◽  
Gingival Hyperplasia ◽  
Oral Manifestations ◽  
Enamel Hypoplasia ◽  
Multiple Organs ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex.

ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders

2020 ◽  
Author(s):  
Jacob Steinle ◽  
Waheeda A. Hossain ◽  
Scott Lovell ◽  
Olivia J. Veatch ◽  
Merlin G. Butler
Keyword(s):  
Connective Tissue ◽  
Autosomal Dominant ◽  
Gene Variant ◽  
Connective Tissue Disorders
Sign in / Sign up

Export Citation Format

Share Document