scholarly journals Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Harsh Patel ◽  
William Naber ◽  
Austin Cusick ◽  
Craig Oser
Keyword(s):  
Rare Variant ◽  
Autosomal Dominant ◽  
Familial Syndrome ◽  
Healthcare Evaluation ◽  
Familial Disorder ◽  
History Of ◽  
Familial Cylindromatosis

Brooke–Spiegler Syndrome (BSS) is a rare autosomal dominant familial disorder resulting in dermatologic neoplasms of copious nodular appendages. Here, we report a case of Familial Cylindromatosis (FC), a subtype of BSS, in a patient with the largest cylindroma of 7.4 × 5.6 × 3.8 cm on the scalp. The patient had undiagnosed cylindromas growing for 36 years at presentation; however, he did not seek out healthcare evaluation. Excision and pathologic investigation of three large masses from different body sites determined a shared phenotype of cylindromas. Subsequent evaluation of the patient's son separately, after primary patient excision, confirmed cylindroma development as well. The pathologic evidence of cylindromas in the patient with a new history of family incidence confirmed the diagnosis of the FC variant of BSS.

Verrucous Psoriasis Successfully Treated with Ixekizumab: A Case Report with Review Literature

2020 ◽  
Vol 103 (9) ◽  
pp. 948-951
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Case Report ◽  
Rare Variant ◽  
Psoriasis Vulgaris ◽  
Review Literature ◽  
Antituberculous Therapy ◽  
Plaque Type ◽  
History Of

Verrucous psoriasis is a rare variant of plaque-type psoriasis with only about 35 cases reported. The authors reported a man with a history of psoriasis vulgaris for seven years, presented with progressive verrucous hyperkeratotic plaques on both legs for three years. His earlier investigations favored the diagnosis of tuberculosis verrucosa cutis. After completing the antituberculous therapy, the lesions persisted. The later investigations favored a rare subtype of psoriasis named verrucous psoriasis. Keywords: Verrucous psoriasis, Tuberculosis verrucosa cutis, Mycobacterium tuberculosis, Ixekixumab

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

Variant Plasminogens in Patients with a History of Venous Thrombosis

1979 ◽  
Author(s):  
K.C. Robbins ◽  
R.C. Wohl ◽  
L. Summaria
Keyword(s):  
Venous Thrombosis ◽  
Rate Constants ◽  
Autosomal Dominant ◽  
Binding Properties ◽  
Activation Data ◽  
History Of ◽  
Michaelis Constants ◽  
Catalytic Rate ◽  
Abnormal Plasminogen ◽  
Activation Rates

Kinetic methods will be described For measuring plasminogen and for studying plasminoge activation in human plasma, using specific synthetic substrates, with different activat, species. These studies resulted in the discovery of several patients plasmas containin-variant, or abnormal, plasminogen molecules; these plasmas showed lower observable activation rates. Plasminogen isolated from these plasmas activated with Identical catalytic rate constants to normal plasminogen, by different activator species, but the apparent Michaelis constants were 10- to 100-fold higher. These data lead to the conclsion that the binding properties of the activator species to the variant plasminogens have been impaired. The interpretation of the data In two patients with venous thrpto-sis was possible only in terms of homogeneous populations of plasminogen molecules. These individuals have to be considered homozygous with respect to their plasminogens, and Family studies Indicate the possibility of an autosomal dominant hereditary transmission. The urokinase activation data with the variant plasminogens point to an activation mechanisn identical to that proposed for streptokinase, namely the activation of Plasminogen hy a plasminogen-urokinase complex, analogous with the plasminogen-streptokinase comnlex.

scholarly journals Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1853
Author(s):  
Brian G. Ballios ◽  
Emily M. Place ◽  
Luis Martinez-Velazquez ◽  
Eric A. Pierce ◽  
Jason I. Comander ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Peripheral Vision ◽  
Visual Fields ◽  
Macular Disease ◽  
History Of ◽  
Intrafamilial Variability ◽  
Long Term Prognosis

Sector and pericentral are two rare, regional forms of retinitis pigmentosa (RP). While usually defined as stable or only very slowly progressing, the available literature to support this claim is limited. Additionally, few studies have analyzed the spectrum of disease within a particular genotype. We identified all cases (9 patients) with an autosomal dominant Rhodopsin variant previously associated with sector RP (RHO c.316G > A, p.Gly106Arg) at our institution. Clinical histories were reviewed, and testing included visual fields, multimodal imaging, and electroretinography. Patients demonstrated a broad phenotypic spectrum that spanned regional phenotypes from sector-like to pericentral RP, as well as generalized disease. We also present evidence of significant intrafamilial variability in regional phenotypes. Finally, we present the longest-reported follow-up for a patient with RHO-associated sector-like RP, showing progression from sectoral to pericentral disease over three decades. In the absence of comorbid macular disease, the long-term prognosis for central visual acuity is good. However, we found that significant progression of RHO p.Gly106Arg disease can occur over protracted periods, with impact on peripheral vision. Longitudinal widefield imaging and periodic ERG reassessment are likely to aid in monitoring disease progression.

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.

Autosomal Dominant Optic Atrophy

2019 ◽  
pp. 29-34
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak
Keyword(s):  
Differential Diagnosis ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Spastic Paraparesis ◽  
Progressive External Ophthalmoplegia ◽  
Management Approach ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
History Of

There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral symmetric optic neuropathies. We next review the genetic basis, clinical features, and natural history of autosomal dominant optic atrophy. We list other deficits that can occur in up to 20% of patients with this condition, which can include sensorineural hearing loss, ataxia, myopathy, peripheral neuropathy, spastic paraparesis, and chronic progressive external ophthalmoplegia. Lastly, we discuss the evaluation and management approach for autosomal dominant optic atrophy.

scholarly journals Muir-Torre Syndrome: case report and molecular characterization

2014 ◽  
Vol 132 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Carolina Alejandra Rios ◽  
Ricardo Villalon ◽  
Jorge Munoz ◽  
Monica Acuna ◽  
Lucia Cifuentes
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Treatment Options ◽  
Skin Lesions ◽  
Molecular Techniques ◽  
Causative Mutation ◽  
Colorectal Tumors ◽  
History Of ◽  
Repair Genes ◽  
Microsatellite Instability Analysis

CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis. CASE REPORT: We report the case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation. CONCLUSION: Molecular diagnostics is a highly useful tool, since it allows clinicians to confirm the presence of mutations causing Muir-Torre syndrome. It is complementary to the analysis of the clinical data, such as dermatological presentation, presence of visceral malignancies and family history of colorectal tumors, and it provides important knowledge to help physicians and patients choose between treatment options.

scholarly journals Maternal or Paternal Diabetes and Its Crucial Role in Offspring Birth Weight and MODY Diagnosis

Metabolites ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 387
Author(s):  
Valeria Calcaterra ◽  
Angela Zanfardino ◽  
Gian Vincenzo Zuccotti ◽  
Dario Iafusco
Keyword(s):  
Birth Weight ◽  
Crucial Role ◽  
Autosomal Dominant ◽  
Maternal Diabetes ◽  
Fetal Weight ◽  
Maturity Onset Diabetes ◽  
Heterogenous Group ◽  
History Of ◽  
The Impact

Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic autosomal dominant diseases, which accounts for 1–2% of all diabetes cases. Pregnancy represents a crucial time to diagnose MODY forms due to the 50% risk of inheritance in offspring of affected subjects and the potential implications on adequate fetal weight. Not only a history of maternal diabetes may affect the birth weight of offspring, paternal diabetes should also be taken into consideration for a correct pathogenetic diagnosis. The crucial role of maternal and paternal diabetes inheritance patterns and the impact of this inherited mutation on birthweight and the MODY diagnosis was discussed.

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