scholarly journals Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomas Treated with Liquid Nitrogen Cryotherapy

2016 ◽  
Vol 8 (1) ◽  
pp. 65-70 ◽  
Author(s):  
Mohammad A. Basendwh ◽  
Mohammad Fatani ◽  
Badee Baltow
Keyword(s):  
Liquid Nitrogen ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Skin Lesions ◽  
Dermatology Clinic ◽  
Increased Risk ◽  
Smooth Muscle Tumors ◽  
History Of ◽  
Cutaneous Leiomyomas ◽  
Dermal Lesion

Reed's syndrome is an autosomal dominant genetic disorder. Affected individuals are at increased risk of developing benign smooth muscle tumors in the skin and uterus. In this article, we report a case of a 52-year-old female who presented to our dermatology clinic complaining of painful skin lesions on her right arm, left forearm and trunk. The patient had a past medical history of uterine leiomyomatosis for which she underwent hysterectomy 17 years ago. The patient's family history revealed that her mother, 2 sisters and 2 maternal aunts also had uterine leiomyomas. The diagnosis of Reed's syndrome was confirmed by histopathologic examination of the patient's dermal lesion in conjunction with her surgical and family histories. Five years after the initial presentation, the patient underwent treatment with liquid nitrogen cryotherapy for the dermal leiomyomas. After the treatment, marked improvement was noticed with regard to the pain and size of the skin lesions.

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.

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 A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Christin B. Laufer ◽  
Layne B. Green ◽  
Darren E. Whittemore
Keyword(s):  
Novel Mutation ◽  
Fumarate Hydratase ◽  
Uterine Fibroids ◽  
Papillary Renal Cell Carcinoma ◽  
Young Female ◽  
Cancer Predisposition Syndrome ◽  
Dermatology Clinic ◽  
Underlying Malignancy ◽  
History Of ◽  
Cutaneous Leiomyomas

Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. Despite the fact that up to 16% of patients can develop aggressive type 2 papillary renal cell carcinoma, there are currently no consensus guidelines on screening or patient management.

Cowden’s disease: a rare cause of oral papillomatosis

2002 ◽  
Vol 116 (3) ◽  
pp. 221-223 ◽  
Author(s):  
Marissa Botma ◽  
Derrick I. Russell ◽  
Robin A. Kell
Keyword(s):  
Gastrointestinal Tract ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Past History ◽  
Breast Malignancy ◽  
Autosomal Dominant Condition ◽  
Increased Risk ◽  
Cowden’S Disease ◽  
History Of ◽  
Dominant Condition

Cowden’s disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.

scholarly journals Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Esteban Uribe-Bojanini ◽  
Sara Hernandez-Quiceno ◽  
Alicia María Cock-Rada
Keyword(s):  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Panel Testing ◽  
First Case ◽  
Skin Malignancy ◽  
Increased Risk ◽  
History Of

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

scholarly journals Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology

2019 ◽  
Vol 12 (9) ◽  
pp. e231039
Author(s):  
Kartik Kumar ◽  
Clare Ross
Keyword(s):  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Lung Cysts ◽  
Cystic Lung ◽  
Increased Risk ◽  
Renal Tumours ◽  
Pulmonary Cysts ◽  
Dominant Condition ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Our case highlights the importance of considering a broad differential diagnosis for the cause of a spontaneous pneumothorax in the presence of unexplained cystic lung disease and emphasises the value of maintaining a high index of clinical suspicion for inherited causes of pneumothoraces.

scholarly journals Oral Squamous Cell Carcinoma in a Patient with Fanconi Anemia

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Milla Huuhka ◽  
Aaro Turunen
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Bone Marrow Failure ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Skin Lesions ◽  
Increased Risk

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). FA patients may also display a low tolerance to oncologic treatments. The authors present a case of mandibular squamous cell carcinoma in a young FA patient. Because of the aggressive nature of the SCC and complex treatment options, we recommend a strict lifelong follow-up for all FA patients to detect early changes in the oral mucosa.

Prenatal diagnosis of fetal abnormality: the decision to terminate the pregnancy and the psychological consequences

2002 ◽  
Vol 13 (4) ◽  
pp. 213-247 ◽  
Author(s):  
Helen Statham
Keyword(s):  
Prenatal Screening ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Psychological Consequences ◽  
Maternal Condition ◽  
Fetal Abnormality ◽  
Structural Anomaly ◽  
Increased Risk ◽  
History Of ◽  
Low Risk Women

In the absence of any prenatal screening, some two percent of babies will be born with a structural anomaly; a further 1 in 700–800 will be born with Down's syndrome, with similar numbers having other chromosomal and serious genetic disorders. The prevalence of abnormalities in early pregnancy is higher because abnormal fetuses are more likely to miscarry than normal ones. A small number of women enter pregnancy at increased risk of conceiving a baby with an abnormality. They may have a maternal condition such as diabetes, need medication for conditions such as epilepsy, or have a family history of a genetic disorder (www3.ncbi.nlm.nih.gov/Omim/searchomim.html). Most abnormalities, however, occur in healthy, low-risk women.

Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis

Blood ◽  
2008 ◽  
Vol 111 (9) ◽  
pp. 4456-4462 ◽  
Author(s):  
Marnie J. Wood ◽  
Lawrie W. Powell ◽  
Grant A. Ramm
Keyword(s):  
Liver Disease ◽  
Genetic Disorder ◽  
Hereditary Hemochromatosis ◽  
Genetic Mutation ◽  
Iron Loading ◽  
Genetic Modifiers ◽  
Increased Risk ◽  
Recent Developments ◽  
History Of ◽  
Severe Liver Disease

Abstract Hereditary hemochromatosis is a genetic disorder of iron metabolism leading to inappropriate iron absorption and iron loading in various organs especially the liver. Despite the genetic mutation being relatively common in those of Anglo Celtic descent, cirrhosis of the liver occurs in only a small proportion of affected individuals. The risk of hepatic fibrosis and cirrhosis relates to the degree of iron loading with threshold hepatic iron concentrations being identified from population studies. However, other environmental and possibly genetic factors appear to modify this risk. Excess alcohol consumption appears to be one of the most important cofactors with steatosis and coexistent viral infection also implicated. Genetic polymorphisms in genes associated with fibrogenesis, antioxidant activity, and inflammation have been investigated in several different forms of chronic liver disease. The variability in the expression of these genes that predispose patients with hemochromatosis to increased risk of severe liver disease is the subject of ongoing investigations. Clearly the progression of iron loading to cirrhosis marks a crucial stage in the natural history of a patient's disease and therefore therapy and prognosis. This review explores recent developments in knowledge of environmental and genetic modifiers of this process.

Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review

Vascular ◽  
2020 ◽  
pp. 170853812093458 ◽  
Author(s):  
Rizwan Iqbal ◽  
Samiha Alom ◽  
Jalal BinSaeid ◽  
Amer Harky
Keyword(s):  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Aortic Aneurysms ◽  
Current Evidence ◽  
Medical Subject Headings ◽  
Genetic Studies ◽  
Mesh Terms ◽  
Life Threatening ◽  
History Of ◽  
Systemic Manifestations

Loeys–Dietz syndrome is an autosomal dominant genetic disorder which is associated with significant and often crucial vascular manifestations. This review is aimed to examine current evidence on pathophysiology and management of Loeys–Dietz syndrome in current era. A comprehensive electronic search was done to identify the articles that discussed all the aspects of Loeys–Dietz syndrome, combined key words and Medical Subject Headings (MeSH) terms were used. Relevant articles have been summarized in each relevant section. Loeys–Dietz syndrome is an autosomal dominant genetic disorder which has combined and multi-systemic manifestations. The increased breakdown of extracellular matrix predisposes an individual to developing aneurysms in the aortic tree which is undoubtedly the most significant complication of this disorder. Understanding the pathophysiology and natural history of Loeys–Dietz syndrome and regular surveillance is important to plan prophylactic interventions to prevent life-threatening aortic emergencies which can be fatal. Loeys–Dietz syndrome is an aggressive genetic condition that predisposes an individual to the development of life-threatening aortic aneurysms. Our understanding of Loeys–Dietz syndrome remains ever-changing and it is likely that the knowledge regarding its diagnosis and treatment will become more clearly defined in the coming years with deeper genetic studies.

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