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>

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.

Moderate Grade Astrocytoma Presenting in a 4-Month-Old Child with a Family History of von Recklinghausen's Neurofibromatosis Spanning Four Generations: A Case Report

Neurosurgery ◽  
1983 ◽  
Vol 13 (6) ◽  
pp. 692-694
Author(s):  
Nancy E. Epstein ◽  
Alan D. Rosenthal ◽  
Jay Selman ◽  
Michael Osipoff ◽  
Roger A. Hyman
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
History Of ◽  
Thalamic Glioma ◽  
Von Recklinghausen's Neurofibromatosis ◽  
Neonatal Lesions ◽  
Von Recklinghausen’S Neurofibromatosis

Abstract Intracranial gliomas are found in association with von Recklinghausen's neurofibromatosis. However, few truly neonatal lesions have been identified and studied. This case report concerns a 4-month-old child who was found to have a massive thalamic glioma of moderate grade. Four paternal generations had suffered from different manifestations of this transmissible autosomal-dominant (Ad) phakomatosis.

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.

scholarly journals Aortic compression of the esophagus: A case report and literature review

2021 ◽  
Vol 10 (9) ◽  
pp. 205846012110432
Author(s):  
Manuela Tomforde ◽  
Heidi Kupsch ◽  
Andreas Christe ◽  
Mathias Sturzenegger ◽  
Manfred Essig
Keyword(s):  
Case Report ◽  
Family History ◽  
Proton Pump Inhibitor ◽  
Gastroesophageal Reflux ◽  
Positive Family History ◽  
Barium Swallow ◽  
Lower Esophagus ◽  
Carcinoma Of The Esophagus ◽  
Proximal Esophagus ◽  
History Of

Distal aortic compression of the lower esophagus with consecutive dilatation of the proximal esophagus was first described in the literature in 1932. Here, the authors describe the case of a 66 year-old male complaining of gastroesophageal reflux. Due to a positive family history of carcinoma of the esophagus and compression of the dorsal esophagus during an esophageal barium swallow test, further tests were performed. Endoscopy and CT exam revealed a dilated esophagus due to compression of a crossing aorta. Because of mild symptoms and the absence of dysphagia, no further treatment was necessary except for the use of a proton pump inhibitor and recommended follow-ups every one to two years.

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 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 Unna Thost syndrome: a case report

2019 ◽  
Vol 6 (4) ◽  
pp. 1767
Author(s):  
Geetha M. ◽  
Rajeswari Bhat ◽  
Kiran B. ◽  
Madhusmitha Jena ◽  
Libni D. Angel
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Palmoplantar Keratoderma ◽  
Autosomal Dominant Fashion ◽  
Second Degree

Unna thost syndrome is Palmo Plantar Keratoderma (PPK) of diffuse non epidermolytic type inherited in autosomal dominant fashion. Authors had a seven-year-old boy born to second degree consanguineous parents had palmoplantar keratoderma with hyperhidrosis with positive family history. He was promptly diagnosed and treated with acitretin and showed improvement.

scholarly journals Does the Age of Sudden Cardiac Death in Family Members Matter in Brugada Syndrome?

2021 ◽  
Author(s):  
Pattara Rattanawong ◽  
Jakrin Kewcharoen ◽  
Chanavuth Kanitsoraphan ◽  
Timothy Barry ◽  
Anusha Shanbhag ◽  
...  
Keyword(s):  
Family History ◽  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Meta Analysis ◽  
Positive Family History ◽  
Family Members ◽  
Increased Risk ◽  
History Of ◽  
Risk Predictor

Background Brugada syndrome is an inherited cardiac channelopathy associated with major arrhythmic events (MAEs). The presence of a positive family history of sudden cardiac death (SCD) as a risk predictor of MAE remains controversial. We aimed to examine the association between family history of SCD and MAEs stratified by age of SCD with a systematic review and meta‐analysis. Methods and Results We searched the databases of MEDLINE and EMBASE from January 1992 to January 2020. Data from each study were combined using the random‐effects model. Fitted metaregression was performed to evaluate the association between the age of SCD in families and the risk of MAE. Twenty‐two studies from 2004 to 2019 were included in this meta‐analysis involving 3386 patients with Brugada syndrome. The overall family history of SCD was not associated with increased risk of MAE in Brugada syndrome (pooled odds ratio [OR], 1.11; 95% CI, 0.82–1.51; P =0.489, I 2 =45.0%). However, a history of SCD in family members of age younger than 40 years of age did increase the risk of MAE by ≈2‐fold (pooled OR, 2.03; 95% CI, 1.11–3.73; P =0.022, I 2 =0.0%). When stratified by the age of cut point at 50, 45, 40, and 35 years old, a history of SCD in younger family member was significantly associated with a higher risk of MAE (pooled OR, 0.49, 1.30, 1.51, and 2.97, respectively; P =0.046). Conclusions A history of SCD among family members of age younger than 40 years was associated with a higher risk of MAE.

Positive family history of aortic dissection dramatically increases dissection risk in family members

2017 ◽  
Vol 240 ◽  
pp. 132-137 ◽  
Author(s):  
Wei-Guo Ma ◽  
Alan S. Chou ◽  
Salvior C.M. Mok ◽  
Bulat A. Ziganshin ◽  
Paris Charilaou ◽  
...  
Keyword(s):  
Family History ◽  
Aortic Dissection ◽  
Positive Family History ◽  
Family Members ◽  
History Of

scholarly journals Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
D. W. V. N. Dissanayaka ◽  
D. K. B. Dassanayaka ◽  
P. R. Jayasooriya
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Similar Type ◽  
Skin Tumours ◽  
Autosomal Dominant Pattern ◽  
Histopathological Evaluation ◽  
History Of ◽  
Nodular Lesions

Trichoepitheliomas (TE) are benign skin tumours of the pilosebaceous apocrine unit with follicular differentiation. Multiple familial trichoepithelioma (MFT) is a considerably rare condition inherited in an autosomal dominant pattern. We present a case of a 15-year-old male who presented with multiple papulo-nodular lesions in the central face and a family history of a similar type of lesions from his mother. Significance of consideration of various clinical differential diagnoses with serious pathological outcomes, strategies followed in the diagnosis including histopathological evaluation aided by immunohistochemical investigations, and subsequent challenges that may be faced in the management of MFT in light of the presentation with multiple facial papules are documented in this case report.

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