scholarly journals Netherton’s Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood

2020 ◽  
Vol 12 (1) ◽  
pp. 64-69
Author(s):  
Akshay Flora ◽  
Annika Smith
Keyword(s):  
Genetic Disease ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Correct Diagnosis ◽  
Hair Shaft ◽  
Cutaneous Inflammation ◽  
Erythrodermic Psoriasis ◽  
Timely Fashion ◽  
Congenital Ichthyosiform Erythroderma

Netherton’s syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality known as trichorrhexis invaginata, severe atopy, and a migratory rash known as ichythyosis linearis circumflexa. The chronicity and severity of NS adversely affects a patient’s quality of life to a large extent. It Is therefore important that this condition is identified early, and treatment to reduce cutaneous inflammation is initiated in a timely fashion. However, due to this condition being relatively rare, a lack of awareness may lead clinicians to misdiagnose it as atopic dermatitis or undifferentiated psoriasis. Clinicians should therefore be aware of the peripheral stigmata that this disease may present as in adulthood, so that a correct diagnosis can be made if it was previously missed. Here we present a case of two male siblings from Jordon who were misdiagnosed since childhood as having erythrodermic psoriasis. Clinical examination of one of the siblings, as an adult, revealed multiple peripheral features associated with NS. Genetic analysis through sanger sequencing was also able to identify a mutation in the SPINK5 gene, confirming the diagnosis.

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

scholarly journals Pediatric Dental Care in Fanconi Anemia: A Case Report

2018 ◽  
Vol 20 (3) ◽  
pp. 25-31
Author(s):  
César Gaitán-Fonseca DDS, MSc, PhD ◽  
Maribel Frías-Muñoz DDS ◽  
Luis Enrique Guerrero-de la Torre DDS ◽  
Obed Lemus-Rojero DDS, MSc ◽  
Luis Alejandro Aguilera-Galavíz DDS, MSc, PhD
Keyword(s):  
Fanconi Anemia ◽  
Genetic Disease ◽  
Congenital Malformations ◽  
Autosomal Recessive ◽  
Epidemiological Data ◽  
Positive Influence ◽  
Chromosome X ◽  
Systemic Condition

Fanconi Anemia (FA) is an autosomal-recessive genetic disease that is linked to Chromosome X, which is reported in studies with pancytopenia, congenital malformations, and a predisposition to develop cancer. FA 1,360,000 births, and is a condition that occurs in heterozygous subjects in 0.5% of the population. In Mexico, there are, to our knowledge, no epidemiological data on FA, and it is thought that many cases are underdiagnosed. This document reports the clinical case of a patient diagnosed with FA who   the cardinal signs of this rare pathology. The pediatric approach involved was performed with a preventive and restorative approach, in addition to the design and placement of a palatal shutter. After a follow-up of more than 12 months, a significant reduction in the recurrence of infections, such as otitis, tonsillitis, and pharyngitis, was observed, suggesting a positive influence of the use of the obturator. In turn with the latter, there was a lower need for transfusions, which may also be related to control of the foci of the infection. The pediatric approach employed in to patients with FA may have significant repercussions on both quality of life and on their patients’ general systemic condition, although this is scarcely verifiable due to the rarity of this pathology.

scholarly journals Understanding the relevance of pain, depression and anxiety-like manifestations in the management of cystic fibrosis

2015 ◽  
Vol 67 (3) ◽  
pp. 1067-1070
Author(s):  
Evelina Moraru ◽  
Ramona Diaconu ◽  
Emil Anton ◽  
Laura Bozomitu ◽  
Carmen Anton ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Cystic Fibrosis ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Original Data ◽  
Epidemiological Studies ◽  
Depression And Anxiety

Cystic fibrosis (CF) is the most frequent autosomal recessive genetic disease in Caucasians. Although epidemiological studies continue to provide data and information that could lead to a better understanding of the clinical manifestations of the disease, there are still many controversies regarding the importance of some risk factors, such as pain, depression or anxiety in the pathogenesis of this disorder and its management. In the present study, we focused on the relevance of these 3 factors in the management of CF and to their related mechanisms in this disorder. Our original data showed that pain, depression and anxiety, determined by using a specific quality of life (KINDL) questionnaire, are important in understanding this disorder, the effectiveness of treatment and could also represent important factors for improving treatment. The screening and treatment of these specific manifestations in CF patients is recommended and holds promise for improving the outcome of patients with CF.

scholarly journals Stigma and cystic fibrosis

2010 ◽  
Vol 18 (1) ◽  
pp. 139-142 ◽  
Author(s):  
Tainá Maues Peluci Pizzignacco ◽  
Débora Falleiros de Mello ◽  
Regina Aparecida Garcia de Lima
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Chronic Disease ◽  
Children And Adolescents ◽  
Treatment Adherence ◽  
Family Relationships ◽  
Life Histories ◽  
Autosomal Recessive ◽  
Family Members

Cystic Fibrosis (CF), also known as Mucoviscidosis, is a chronic disease of autosomal recessive origin and so far incurable. This analysis considers some characteristics of patients and family members that indicate it is a stigmatizing disease. The CF stigma’s impact on the lives of children and adolescents can affect treatment adherence, socialization, family relationships and the formation of their life histories, with direct consequences on their quality of life.

scholarly journals Discrepancies in interpretation of night-time emergency computed tomography scans by radiology residents

2018 ◽  
Vol 7 (10) ◽  
pp. 205846011880723
Author(s):  
Elias Vaattovaara ◽  
Marko Nikki ◽  
Mika Nevalainen ◽  
Mervi Ilmarinen ◽  
Osmo Tervonen
Keyword(s):  
Computed Tomography ◽  
Emergency Radiology ◽  
Correct Diagnosis ◽  
Anatomical Variations ◽  
Night Time ◽  
Radiology Resident ◽  
Computed Tomography Scans ◽  
Time Work ◽  
Radiology Residents

Background In many emergency radiology units, most of the night-time work is performed by radiology residents. Residents’ preliminary reports are typically reviewed by an attending radiologist. Accordingly, it is known that discrepancies in these preliminary reports exist. Purpose To evaluate the quality of night-time computed tomography (CT) interpretations made by radiology residents in the emergency department. Material and Methods Retrospectively, 1463 initial night-time CT interpretations given by a radiology resident were compared to the subspecialist’s re-interpretation given the following weekday. All discrepancies were recorded and classified into different groups regarding their possible adverse effect for the emergency treatment. The rate of discrepancies was compared between more and less experienced residents and between different anatomical regions. Results The overall rate of misinterpretations was low. In 2.3% (33/1463) of all night-time CT interpretations, an important and clinically relevant diagnosis was missed. No fatalities occurred due to CT misinterpretations during the study. The total rate of discrepancies including clinically irrelevant findings such as anatomical variations was 12.2% (179/1463). Less experienced residents were more likely to miss the correct diagnosis than more experienced residents (18.3% vs. 10.9%, odds ratio [OR] = 1.82, P = 0.001). Discrepancies were more common in body CT interpretations than in neurological CTs (18.1% vs. 9.1%, OR = 2.30, P < 0.0001). Conclusion The rate of clinically important misinterpretations in CT examinations by radiology residents was found to be low. Experience helps in lowering the rate of misinterpretations.

Urinary Retention Due to Severe Pseudocystic Mucoid Degeneration of the Prostatic Matrix: A Rare Urologic Manifestation of Cystic Fibrosis

2015 ◽  
Vol 95 (4) ◽  
pp. 486-488
Author(s):  
Gesa Kellermann ◽  
Aristotelis G. Anastasiadis ◽  
Desirée L. Dräger ◽  
Friedrich Prall ◽  
Oliver W. Hakenberg
Keyword(s):  
Cystic Fibrosis ◽  
Urinary Retention ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Structural Changes ◽  
Histopathological Examination ◽  
Underlying Disease ◽  
Exocrine Glands ◽  
Mucoid Degeneration ◽  
Prostatic Enlargement

Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is characterized by the production of thick mucus in exocrine glands. The main cause for morbidity and mortality in CF patients is respiratory failure. The gastrointestinal system is also commonly affected. Urologic manifestations of CF include infertility and azoospermia, nephrolithiasis, and stress urinary incontinence. In this report, we describe a 33-year-old male, who presented with recurrent urinary retention due to prostatic enlargement despite his young age. After transurethral resection, the voiding problems resolved. Histopathological examination, however, revealed a severe pseudocystic mucoid degeneration of the prostatic matrix as a cause of his subvesical obstruction. Although these structural changes are most probably due to his underlying disease, detailed histologic features have not been described in the literature.

Cytomegalovirus Retinitis: Diagnosis and Treatment

1993 ◽  
Vol 4 (6) ◽  
pp. 322-325 ◽  
Author(s):  
Hunter Maclean ◽  
Baljean Dhillon
Keyword(s):  
Quality Of Life ◽  
Correct Diagnosis ◽  
Cytomegalovirus Retinitis ◽  
Morbidity And Mortality ◽  
Diagnosis And Treatment ◽  
Hiv Positive ◽  
Pathogenic Organism

Cytomegalovirus (CMV) is a non-pathogenic organism in the immunocompetent, but is a major cause of morbidity and mortality amongst patients with AIDS, and the retina is the commonest site of infection1. If left untreated, patients with CMVR will develop disease in their second eye and ultimately become blind2. However, with correct diagnosis and treatment useful vision can be maintained in the majority of cases. Fifteen to 20% of patients with AIDS will contract cytomegalovirus retinitis (CMVR)3−7 and this may be the AIDS-defining diagnosis though more commonly it occurs months after the diagnosis of AIDS. Given the increasing number of HIV positive patients and their longer survival, it is likely that CMVR will become an increasingly prevalent condition. In these patients loss of sight from CMVR has devastating consequences in terms of loss of independence and quality of life and therefore ophthalmologists and physicians should be aware of the presenting characteristics of CMVR, be familiar with therapy and its complications, and be able to recognize relapsing infection.

scholarly journals Sindrome de allgrove en niños. Reporte de 11 casos

2020 ◽  
Vol 50 (4) ◽  
Author(s):  
María Carmen Álvarez López ◽  
Pedro Coello Ramírez ◽  
Elizabeth García Rodríguez ◽  
Mariana Ordoñez Cárdenas ◽  
Fátima Azereth Reynoso Zarzosa
Keyword(s):  
Adrenal Insufficiency ◽  
Genetic Disease ◽  
High Frequency ◽  
Clinical Characteristics ◽  
Autosomal Recessive ◽  
Allgrove Syndrome ◽  
Documented Case ◽  
Responsible Gene ◽  
Neurological Alterations ◽  
Chronic Vomiting

Background. Allgrove Syndrome is a very rare genetic disease, which is inherited in an autosomal recessive way. The responsible gene is the AAAS, that encodes the protein ALADIN. It occurs most often in children of consanguineous parents. It is characterized by the classic triad of achalasia, alacrima, and adrenal insufficiency due to resistance to ACTH; the presence of two of the three previous manifestation events are required to establish the diagnosis. There is also a high frequency of the neurologic symptoms. Objective. Describe the clinical characteristics, age of presentation and evolution in 11 patients with Allgrove Syndrome. Methods. 11 clinical cases compatible with Allgrove Syndrome of presentation in childhood are retrospectively reviewed. Results. The average age at diagnosis was 5.9 years (range 1-16 years old). There was a predominance of the female sex (n = 7). The most common symptoms were postprandial vomiting and alacrima, present in 100% of the cases at the time of diagnosis. Adrenal insufficiency was not common; it was only documented in one patient. There was consanguinity between parents in 62.5% of the cases. Conclusions. Allgrove Syndrome is an uncommon cause of dysphagia, chronic vomiting and failure to grow in children. In case of any documented case of achalasia it is suggested to question in a directed way the presence of alacrima and adrenal insufficiency data such as seizures, hyperpigmentation of the skin and neurological alterations.

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

scholarly journals Chronic pancreatitis.Evidence based management guidelines of the Hungarian Pancreatic Study Group

2015 ◽  
Vol 156 (7) ◽  
pp. 262-288 ◽  
Author(s):  
Tamás Takács ◽  
László Czakó ◽  
Zsolt Dubravcsik ◽  
Gyula Farkas ◽  
Péter Hegyi ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Treatment Guidelines ◽  
Task Force ◽  
Correct Diagnosis ◽  
Study Group ◽  
Evidence Based ◽  
International Guidelines ◽  
Basic Reference ◽  
Evidence Based Guideline

Chronic pancreatitis is an inflammatory disease associated with structural and functional damage of the pancreas. In most cases pain, maldigestion and weight loss are the leading sympthoms, which significantly worsen the quality of life. Correct diagnosis and differential diagnosis of chronic pancreatitis and treatment of these patients requires up-to-date and evidence based treatment guidelines. The Hungarian Pancreatic Study Group proposed to prepare an evidence based guideline based on the available international guidelines and evidence. The preparatory and consultation task force appointed by the Hungarian Pancreatic Study Group translated and complemented and/or modified the international guidelines if it was necessary. 123 relevant clinical questions in 11 topics were defined. Evidence was classified according to the UpToDate®grading system. The draft of the guidelines were presented and discussed at the consensus meeting in September 12, 2014. All clinial questions were accepted with total or strong agreement. The present guideline is the first evidence based chronic pancreatitis guideline in Hungary. This guideline provides very important and helpful data for tuition, everyday practice and proper financing of chronic pancreatitis. Therefore, the authors believe that these guidelines will widely become a basic reference in Hungary. Orv. Hetil., 2015, 156(7), 262–288.

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