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 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 Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

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 Milroy’s Disease - The Rarest Cause of Lymphedema

1970 ◽  
Vol 11 (2) ◽  
pp. 189-192
Author(s):  
Faizul Islam Chowdhury ◽  
Ahmedul Kabir ◽  
Jayanta Banik ◽  
Pinaki Paul ◽  
Matiur Rahman ◽  
...  
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Chromosome 5Q

Milroy’s disease is an old term used to describe hereditary congenital lymphedema. It is the rarest of the inheritedlymphedema. The cause is a mutation in the VEGFR3 gene and is inherited in an autosomal dominant manner. Thisgene has been mapped to the telomeric part of the chromosome 5q in the region 5q34-q35. It is characterized bylower limb lymphedema, present at birth or developing soon after. It may be associated with intestinal lymphangiectasiaand cholestasis. Here we report a 57 years old male who had been suffering from bilateral leg swelling since birth andfinally leveled as a case of Milroy’s disease by positive family history and excluding other causes of lymphedema. Wepresent this case due to the rarity of its occurrence.Keywords: Milroy’s Disease; LymphedemaDOI: 10.3329/jom.v11i2.5471J MEDICINE 2010; 11 : 189-192

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.

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.

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 Recurrence of Avellino Corneal Dystrophy Following Penetrating Keratoplasty: A Case Report

2021 ◽  
Vol 59 (236) ◽  
Author(s):  
Rachana Singh Rana ◽  
Leena Bajracharya ◽  
Reeta Gurung
Keyword(s):  
Case Report ◽  
Penetrating Keratoplasty ◽  
Autosomal Dominant ◽  
Corneal Dystrophy ◽  
Rare Disorder ◽  
Epithelial Defect ◽  
Autosomal Dominant Fashion ◽  
History Of

Granular – lattice (Avellino) corneal dystrophy is inherited in an autosomal dominant fashion which affects stroma of the cornea with recurrent erosions and decreased vision due to clouding of cornea in later stage. We reported a case of 53-year old woman presented with pain and blurring of vision of left eye for 10 days with history of right eye deep anterior lamellar dystrophy and Left eye penetrating keratoplasty 5years back for Avellino dystrophy. On examination right eye graft was clear and left eye showed circular edges of irregular epithelium with patchy stains and epithelial defect suggestive of recurrence of dystrophy. A patient with recurrent corneal erosions and opacity in cornea has to be examined carefully so as not to overlook Avellino corneal dystrophy. Being a rare disorder this case has been reported to draw the attention of ophthalmologists about its recurrence following keratoplasty.

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.

scholarly journals Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

2021 ◽  
Vol 11 (1) ◽  
pp. 22
Author(s):  
Laura Bermejo-Guerrero ◽  
Carlos Pablo de Fuenmayor-Fernández de la Hoz ◽  
Pablo Serrano-Lorenzo ◽  
Alberto Blázquez-Encinar ◽  
Gerardo Gutiérrez-Gutiérrez ◽  
...  
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Dna Helicase ◽  
Exercise Intolerance ◽  
Progressive External Ophthalmoplegia ◽  
Muscle Dystrophy ◽  
Genetic Features ◽  
The Mean ◽  
Muscle Biopsies

Autosomal dominant mutations in the TWNK gene, which encodes a mitochondrial DNA helicase, cause adult-onset progressive external ophthalmoplegia (PEO) and PEO-plus presentations. In this retrospective observational study, we describe clinical and complementary data from 25 PEO patients with mutations in TWNK recruited from the Hospital 12 de Octubre Mitochondrial Disorders Laboratory Database. The mean ages of onset and diagnosis were 43 and 63 years, respectively. Family history was positive in 22 patients. Ptosis and PEO (92% and 80%) were the most common findings. Weakness was present in 48%, affecting proximal limbs, neck, and bulbar muscles. Exercise intolerance was present in 28%. Less frequent manifestations were cardiac (24%) and respiratory (4%) involvement, neuropathy (8%), ataxia (4%), and parkinsonism (4%). Only 28% had mild hyperCKemia. All 19 available muscle biopsies showed signs of mitochondrial dysfunction. Ten different TWNK mutations were identified, with c.1361T>G (p.Val454Gly) and c.1070G>C (p.Arg357Pro) being the most common. Before definitive genetic confirmation, 56% of patients were misdiagnosed (36% with myasthenia, 20% with oculopharyngeal muscle dystrophy). Accurate differential diagnosis and early confirmation with appropriately chosen complementary studies allow genetic counseling and the avoidance of unnecessary treatments. Thus, mitochondrial myopathies must be considered in PEO/PEO-plus presentations, and particularly, TWNK is an important cause when positive family history is present.

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