Familial Bell's Palsy: Analysis of 25 Families

1988 ◽  
Vol 97 (6_suppl3) ◽  
pp. 8-10 ◽  
Author(s):  
Naoaki Yanagihara ◽  
Eiji Yumoto ◽  
Toyohiro Shibahara
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Bell’S Palsy ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Bell's Palsy ◽  
History Of ◽  
Mode Of Inheritance

Of 625 patients with Bell's palsy, 26 from 25 families (4.0%) had a positive family history of Bell's palsy. Genealogic analysis of the families indicated the mode of inheritance of familial Bell's palsy possibly to be autosomal dominant inheritance with low penetration. The prognosis of familial Bell's palsy was generally favorable. Age, sex, recurrence, and inherited factors are discussed.

Inherited Bell's Palsy

1974 ◽  
Vol 83 (3) ◽  
pp. 343-346 ◽  
Author(s):  
Jeffrey W. Willbrand ◽  
Joel D. Blumhagen ◽  
Mark May
Keyword(s):  
Family History ◽  
Facial Paralysis ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Bell’S Palsy ◽  
Autosomal Dominant Inheritance ◽  
Single Family ◽  
Dominant Inheritance ◽  
Bell's Palsy ◽  
History Of

Twenty-nine cases of Bell's palsy in a single family appear to suggest an autosomal dominant inheritance. In addition, a review of 230 consecutive patients with Bell's palsy revealed a 6% incidence of a positive family history of facial paralysis. These findings implicate inheritance in the etiology of Bell's palsy.

scholarly journals Multiple Symmetric Lipomatosis: A Cross-Sectional Study to Investigate Clinical Features and Patients’ Quality of Life

Symmetry ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 1823
Author(s):  
Daniel Schiltz ◽  
Karolina Mueller ◽  
Christine Ortner ◽  
Sebastian Tschernitz ◽  
Alexandra Anker ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Family History ◽  
Genetic Factor ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Cross Sectional ◽  
Multiple Symmetric Lipomatosis

Within the subcutaneous adipose tissue diseases, multiple symmetric lipomatosis (MSL) (syn.: Launois Bensaude Syndrome, Morbus Madelung, benign symmetric lipomatosis) is rare. The pathogenesis of MSL remains unclear. We investigated the largest German cohort of MSL patients to obtain anamnestic data and quality of life with a standard questionnaire. Twenty-nine patients with confirmed MSL were included and filled in a questionnaire designed for this study. The questionnaire assessed common anamnestic factors, such as quality of life (EQ-5D-3L) and subjective treatment goals and success (“Patient-Benefit-Index-Lymphedema”, PBI-L). The gender distribution of the patients involved in the study was m/f: 1/4 (male: n = 6 (21%); female n = 23 (79%)). While the exact pathophysiology of MSL remains unclear, a subset of patients’ positive family history suggests a strong genetic factor, sometimes compatible with autosomal dominant inheritance. Patients with MSL showed lower health states (EQ VAS Score: m = 51, sd = 24, range = 0–90) than the German norm population (m = 77). Around two thirds (68%) of patients reported relevant benefits of therapy (liposuction/lipectomy). In our cohort about one third of the patients reported a positive family history for MSL-like features. Additionally, at least in some patients, a strong genetic factor, compatible with autosomal dominant inheritance, seems a possible major driver of MSL development. Alcohol consumption and MSL development has to be regarded as a controversial issue. Patients suffering from MSL have a clear decrease in quality of life and a marked wish for treatment.

scholarly journals Syndrome D’aniridie Associé À La Dermatite Atopique: À Propos D’un Cas

2016 ◽  
Vol 12 (6) ◽  
pp. 97
Author(s):  
Abba Kaka H.Y ◽  
Salissou L. ◽  
Amza A. ◽  
Daou M.
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Consanguineous Marriage ◽  
Dominant Mode ◽  
Ocular Lens ◽  
Lens Implantation ◽  
History Of ◽  
Genetic Anomaly

Aniridia syndrome is a genetic anomaly affecting all ocular structures; it is transmitted by an autosomal dominant mode. In its isolated form aniridia is characterized by a hypoplasia of the iris frequently associated with other ocular anomalies. It the syndromic form it is associated to other systemic abnormalities. Authors are here reporting a case of aniridia associating: a corneal pannus, total aniridia, lens ectopia, and cataract found in a 14 years old girl. She also presented an atopic background with a positive family history of atopia. She is issued from a first degree consanguineous marriage. The management was multidisciplinary. In ophthalmology she underwent an intra-capsular extraction of the lens in both eyes with no intra-ocular lens implantation. Dermatological management was treatment of cuteanous lesions with emollients, corticoids and antihistamines drugs and ointments.

scholarly journals Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.

Thorax ◽  
1998 ◽  
Vol 53 (2) ◽  
pp. 151-152 ◽  
Author(s):  
P J Morrison ◽  
R C Lowry ◽  
N C Nevin
Keyword(s):  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Age Of Onset ◽  
Autosomal Dominant Inheritance ◽  
Clinical Entity ◽  
Primary Spontaneous Pneumothorax ◽  
Dominant Inheritance ◽  
Distinct Clinical Entity ◽  
The Family ◽  
Mode Of Inheritance

A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family. Isolated autosomal dominant pneumothorax appears to be a distinct clinical entity.

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 A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Astros Th. Skuladottir ◽  
Gyda Bjornsdottir ◽  
Gudmar Thorleifsson ◽  
G. Bragi Walters ◽  
Muhammad Sulaman Nawaz ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Association Studies ◽  
Meta Analysis ◽  
Bell’S Palsy ◽  
Sequence Variant ◽  
Genome Wide Association Studies ◽  
Dominant Inheritance ◽  
Bell's Palsy ◽  
Genome Wide ◽  
Common Pathogenesis

AbstractBell’s palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting compression of the facial nerve. Reported heritability estimates of 4–14% suggest a genetic component in the etiology and an autosomal dominant inheritance has been proposed. Here, we report findings from a meta-analysis of genome-wide association studies uncovering the first unequivocal association with Bell’s palsy (rs9357446-A; P = 6.79 × 10−23, OR = 1.23; Ncases = 4714, Ncontrols = 1,011,520). The variant also confers risk of intervertebral disc disorders (P = 2.99 × 10−11, OR = 1.04) suggesting a common pathogenesis in part or a true pleiotropy.

scholarly journals Multiple familial trichoepitheliomas: a case report

2021 ◽  
Vol 7 (3) ◽  
pp. 487
Author(s):  
Priyadharshini N. ◽  
Harini Irri ◽  
Sathyanarayanan R.
Keyword(s):  
Case Report ◽  
Family History ◽  
Malignant Transformation ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Family Members ◽  
Histopathological Findings ◽  
Multiple Lesions ◽  
Adnexal Tumor ◽  
History Of

<p class="abstract">Trichoepithelioma is a rare benign adnexal tumor that differentiates towards the folliculo-sebaceous-apocrine unit (trichoblast). It may present as solitary non-familial lesion or multiple lesions as a part of autosomal dominant inherited syndrome known as multiple familial Trichoepithelioma. Multiple familial trichoepithelioma is a relatively rare, disfiguring, benign adnexal neoplasm diagnosed by centrofacial distribution of papules and nodules, positive family history, related histopathological findings and can rarely undergo malignant transformation. Treatment is mainly for cosmetic concern. Here we report a case who presented with multiple skin coloured facial papules and nodules, with a history of similar lesions in other family members. Dermoscopy and histopathology confirmed the diagnosis of trichoepitheliomas.</p>

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