Congenital Malalignment of the Great Toenails in a Pair of Monozygotic Twins

2005 ◽  
Vol 95 (4) ◽  
pp. 398-400 ◽  
Author(s):  
Esin Özdemir ◽  
Seher Bostanci ◽  
Aynur Akyol ◽  
Pelin Ekmekci ◽  
Erbak Gürgey
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Dominant Gene ◽  
Monozygotic Twins ◽  
Distal Phalanx ◽  
Lateral Deviation ◽  
Variable Expression

Congenital malalignment of the great toenails is the lateral deviation of the long axis of nail growth relative to the distal phalanx. The nails grow slowly, with thickening, curving, and transverse ridging. We describe a pair of 3-year-old monozygotic female twins with congenital malalignment of the great toenails complicated by ingrowing and paronychia. Although there are a few cases without any family history, congenital malalignment is believed to be inherited through an autosomal-dominant gene of variable expression. This report provides further evidence of the heritability of the disease. (J Am Podiatr Med Assoc 95(4): 398–400, 2005)

Identification of Two Types of Porphyria Cutanea Tarda by Measurement of Erythrocyte Uroporphyrinogen Decarboxylase

1980 ◽  
Vol 58 (6) ◽  
pp. 477-484 ◽  
Author(s):  
G. H. Elder ◽  
Diane M. Sheppard ◽  
R. E. De Salamanca ◽  
A. Olmos
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Porphyria Cutanea Tarda ◽  
Dominant Gene ◽  
Decarboxylase Activity ◽  
Hepatic Enzyme ◽  
Uroporphyrinogen Decarboxylase ◽  
History Of ◽  
The Common ◽  
Dominant Characteristic

1. Erythrocyte uroporphyrinogen decarboxylase activity has been measured in 27 patients with porphyria cutanea tarda, of whom 11 had a family history of overt porphyria cutanea tarda. 2. Eight patients from six families had erythrocyte uroporphyrinogen decarboxylase activities that were decreased to about half of control values. This decrease was shown by family studies to be inherited as an autosomal dominant characteristic. Two of these patients had no family history of overt porphyria cutanea tarda. 3. Nineteen patients had uroporphyrinogen decarboxylase activities close to or within the range found in 18 control subjects. Of these, five patients had a family history of porphyria cutanea tarda. 4. Inheritance of an autosomal dominant gene which decreases uroporphyrinogen decarboxylase activity in erythrocytes and liver is an uncommon cause of porphyria cutanea tarda and may not explain all cases of familial porphyria cutanea tarda. The hepatic enzyme defect in the common type of porphyria cutanea tarda, in which erythrocyte uroporphyrinogen decarboxylase activity is normal, may be caused either by inheritance of a gene whose effect is restricted to the liver or by chemicals that selectively inhibit the hepatic enzyme.

scholarly journals Ectopic Maxillary Canines: Segregation Analysis and a Twin Study

2008 ◽  
Vol 87 (6) ◽  
pp. 580-583 ◽  
Author(s):  
S. Camilleri ◽  
C.M. Lewis ◽  
F. McDonald
Keyword(s):  
Twin Study ◽  
Segregation Analysis ◽  
Genetic Factors ◽  
Dominant Gene ◽  
Monozygotic Twins ◽  
Pedigree Analysis ◽  
Incomplete Penetrance ◽  
Variable Expression ◽  
Complex Segregation Analysis ◽  
Analysis Package

The etiology of ectopic canines is controversial, with opinion divided as to a genetic or environmental mechanism. This study addressed the hypothesis that genetic factors play a role in the etiology of ectopic maxillary canines. Sixty-three probands were identified, and information on the dental status of 395 relatives was determined. Pedigrees were constructed and the Relative Risk calculated. Complex segregation analysis was carried out by means of the Pedigree Analysis Package. The best mathematical model obtained was a single dominant gene with autosomal transmission, incomplete penetrance, and highly variable expression. Only two of seven pairs of monozygotic twins were concordant for ectopic canines. This is consistent with environmental or epigenetic variables affecting the phenotype. The low concordance rate is consistent with the low penetrance determined by the segregation analysis and further supports the existence of environmental factors.

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.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

Variable expression of Marfan syndrome in monozygotic twins

2008 ◽  
Vol 8 (5) ◽  
pp. 358-363 ◽  
Author(s):  
Lalit M. Ambani ◽  
Thomas D. Gelehrter ◽  
Daniel G. Sheahan
Keyword(s):  
Marfan Syndrome ◽  
Monozygotic Twins ◽  
Variable Expression

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.

The genetic control of red cell glutathione deficiencies in Finnish Landrace and Tasmanian Merino sheep and in crosses between these breeds

1976 ◽  
Vol 87 (2) ◽  
pp. 315-323 ◽  
Author(s):  
Elizabeth M. Tucker ◽  
L. Kilgour ◽  
J. D. Young
Keyword(s):  
Genetic Control ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Dominant Gene ◽  
Red Cell ◽  
Merino Sheep ◽  
Gene Coding ◽  
Transport Defect ◽  
Low Levels ◽  
Cysteine Synthetase

SummaryFinnish Landrace sheep with low red cell GSH concentrations resulting from a defective transport system for certain arnino acids were crossed with Tasmanian Merino sheep with a red cell GSH deficiency due to impaired activity of the enzyme γ-glutamyl cysteine synthetase. Inheritance data showed that the two types of GSH deficiency were under independent genetic control. In the Finnish Landrace breed, the gene coding for the transport defect (Trn) was inherited as an autosomal recessive and sheep homozygous for this gene had high red cell concentrations of lysine and ornithine (Ly ×) as well as low levels of GSH. In the Tasmanian Merino breed the GSH deficiency behaved as if controlled by an autosomal dominant gene (GSHL). Backcross breeding experiments resulted in lambs which had inherited both types of GSH deficiency. Evidence suggested that such ‘double low’ GSH lambs had an impaired viability. In Tasmanian Merinos the GSH deficiency was established prior to birth. Newborn Finnish Landrace lambs were clearly separable into two types on the basis of their red cell lysine and ornithine content but not on their GSH concentrations.

An elderly lady with multiple blisters all over the body: Hailey Hailey Disease

2019 ◽  
Vol 31 (1) ◽  
pp. 29-32
Author(s):  
Tanzina Nuhat Sharma ◽  
Lima Saha ◽  
Mohiuddin Sharif ◽  
Md Mahfuzul Haque ◽  
Md Robed Amin
Keyword(s):  
Cell Adhesion ◽  
Family History ◽  
Epithelial Cell ◽  
Viral Infection ◽  
Calcium Metabolism ◽  
Autosomal Dominant ◽  
The Body ◽  
Minor Trauma ◽  
Brick Wall ◽  
Severe Attack

Hailey-Hailey disease (HHD) is an autosomal-dominant genodermatosis, associated with abnormal epithelial cell adhesion due to altered calcium metabolism. Clinical features involve painful red blisters, erosions, fissured and hypertrophic plaques predominantly in the intertriginous areas. Heat, friction, minor trauma, superimposed bacterial or viral infection can aggravate the condition. Here, we report a case of a 50-year old lady with no previous family history presented with severe attack of HHD since last 5 months. Histology showed acantholysis of keratinocytes resembling characteristic dilapidated brick wall appearance in the epidermis layer of skin which helped for the confirmed diagnosis. Bangladesh J Medicine Jan 2020; 31(1) : 29-32

Sign in / Sign up

Export Citation Format

Share Document