Acral Hemorrhagic Darier’s Disease

2016 ◽  
Vol 20 (5) ◽  
pp. 478-480 ◽  
Author(s):  
Reid Vender ◽  
Ronald Vender
Keyword(s):  
Family History ◽  
Skin Disorder ◽  
Autosomal Dominant ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Topical Retinoids ◽  
History Of

Background: Darier’s disease is an autosomal-dominant inherited disorder with pathogenic changes of keratinization with various forms of cutaneous phenotypes. Rare forms of Darier’s disease are uncommonly seen. Methods: The investigators report the case of a 65-year-old woman who presented with hemorrhagic vesicles on the dorsum of her hands. She had no history of any previous skin disorder. There was no family history of any skin disorder. Results: A biopsy supported a diagnosis of acral hemorrhagic Darier’s disease. The patient was treated with topical retinoids, and her condition improved. Conclusion: Acral hemorrhagic Darier’s disease is rarely reported in the literature.

scholarly journals A Rare Clinical Presentation of Darier’s Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Mybera Ferizi ◽  
Antigona Begolli-Gerqari ◽  
Bostjan Luzar ◽  
Fisnik Kurshumliu ◽  
Mergita Ferizi
Keyword(s):  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Keratosis Follicularis ◽  
Dental Examination ◽  
Darier’S Disease ◽  
Dyskeratosis Follicularis ◽  
Darier's Disease ◽  
History Of ◽  
Hands And Feet ◽  
Head Neck

Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

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 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 Acne:Clinico-Epidemiological Study In DermatologyVenereology Outpatient Clinic Of Dr. M. Djamil Hospital Padang During January 2016 – December 2018

2020 ◽  
Vol 13 (4) ◽  
pp. 325-328
Author(s):  
Satya Wydya Yenny
Keyword(s):  
Retrospective Study ◽  
Family History ◽  
Epidemiological Study ◽  
Clinical Features ◽  
Outpatient Clinic ◽  
Medical Records ◽  
Skin Disorder ◽  
Epidemiological Data ◽  
Common Type ◽  
History Of

Although acne is usually recognized as an adolescent skin disorder, the prevalence of adults with acne is increasing. The clinical and epidemiological data of acne were evaluated with a view to establishing possible contributing etiological factors and observing whether clinical features differ from adolescent acne. Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018.Retrospective study performed in Medical Cosmetic Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018. Data was taken from medical records. Out of 224 patients included in the study 54.01% were women and 45.98 % were men. Majority of the patients had comedonal acne (45.53 %), whereas nodulocystic was the least common (13.39%). Most common predominant site of involvement was cheek (44.20 %), followed by chin (25.45 %), and mandibular area (14.58 %). Family history of acne was present in 57.70 %. Scarring was observed in a 39.2 %. Acne is predominant in women, with the most commonly involved of the cheeks, with the most common type was comedones type.

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.

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 Renal cyst occurring in a case of Darier’s disease

2019 ◽  
Vol 5 (2) ◽  
pp. 427
Author(s):  
Vipul Paul Thomas ◽  
Sangiah Sivaramakrishnan ◽  
Jayakar Thomas
Keyword(s):  
Autosomal Dominant ◽  
Renal Cyst ◽  
Autosomal Dominant Pattern ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Dominant Pattern

<p>Darier’s disease is a rare genodermatosis inherited in an autosomal dominant pattern. The disease is characterised by chronic persistent hyperkeratotic papular eruptions over the seborrheic regions. </p>

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