Angiosarcoma of the Auricle in a Patient with Xeroderma Pigmentosum Variant

Xeroderma pigmentosum (XP) is an inherited autosomal recessive disorder characterized by photosensitivity and an increased risk of developing multiple skin neoplasms at sites exposed to the sun. We report a 73-year-old Japanese man with angiosarcoma of the auricle and an XP-variant, which is a very rare condition. In this case, long-term physical stimulation due to auricular deformation after surgery may have been the cause. Angiosarcoma associated with XP has a better prognosis than common angiosarcoma, perhaps because of the smaller tumor size. As XP patients are at high risk of skin neoplasms, they consult dermatologists regularly, and therefore skin tumors are likely to be detected early.

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Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

Cardiology in the Young ◽

10.1017/s1047951120004953 ◽

2021 ◽

pp. 1-3

Author(s):

Priyanka Prasanna ◽

Chenni S. Sriram ◽

Sarah H. Rodriguez ◽

Utkarsh Kohli

Keyword(s):

Autosomal Recessive ◽

Ventricular Dysfunction ◽

Clinical Presentation ◽

Clinical Course ◽

Rare Condition ◽

Autosomal Recessive Disorder ◽

Left Ventricular ◽

Type I ◽

Neonatal Onset ◽

Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

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Fryns Syndrome: An Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia

PEDIATRICS ◽

10.1542/peds.85.4.499 ◽

1990 ◽

Vol 85 (4) ◽

pp. 499-504

Author(s):

Christopher Cunniff ◽

Kenneth Lyons Jones ◽

Howard M. Saal ◽

Harvey J. Stern

Keyword(s):

Diaphragmatic Hernia ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Facial Features ◽

Craniofacial Anomalies ◽

Term Survival ◽

Variable Expression ◽

Central Nervous Systems ◽

Genetically Determined

Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.

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Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

Genes ◽

10.3390/genes12020295 ◽

2021 ◽

Vol 12 (2) ◽

pp. 295

Author(s):

Eman Rabie ◽

Khalda Amr ◽

Suher Zada ◽

Heba El-Sayed ◽

Mohamad El Darouti ◽

...

Keyword(s):

Xeroderma Pigmentosum ◽

Autosomal Recessive ◽

The Body ◽

Genetic Profiling ◽

Oral Cancers ◽

Ocular Symptoms ◽

Increased Risk ◽

Migration Flows ◽

Skin Photosensitivity ◽

Genotype Correlation

Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Some patients develop neurodegenerative symptoms, including diminished tendon reflexes and microcephaly. In this study, we describe clinical and genetic findings of 36 XP patients from Egypt, a highly consanguineous population from North Africa. Thorough clinical evaluation followed by Sanger sequencing of XPA and XPC genes were done. Six novel and seven previously reported mutations were identified. Phenotype-genotype correlation was investigated. We report clinical and molecular findings consistent with previous reports of countries sharing common population structure, and geographical and historical backgrounds with implications on common ancestral origins and historical migration flows. Clinical and genetic profiling improves diagnosis, management, counselling, and implementation of future targeted therapies.

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Ultrasonographic Evaluation of Maxillofacial Swelling in a Pediatric Patient with Xeroderma Pigmentosum

Balkan Journal of Dental Medicine ◽

10.2478/bjdm-2019-0029 ◽

2019 ◽

Vol 23 (3) ◽

pp. 163-166

Author(s):

Cansu Görürgöz ◽

Nilsu Sakalli ◽

Ferah Mutlu Kul ◽

Nurhan Uslu Özalp

Keyword(s):

Xeroderma Pigmentosum ◽

Autosomal Recessive ◽

Cost Effective ◽

Skin Lesions ◽

Imaging Method ◽

Oral Lesions ◽

The Sun ◽

Non Invasive ◽

Malignant Skin ◽

Tip Of The Tongue

Summary Background/Aim: Xeroderma pigmentosum (XP) is an autosomal recessive skin disease. Affected patients have skin problems, oral mucosa and neurologic symptoms. In these patients, erythematous, hyperpigmented or malignant skin lesions may occur in the sun-exposed areas. Leukoplakia, erythroplakia, and squamous cell carcinoma of the tip of the tongue and lips are common oral lesions associated with XP. Case report: Treatment of the disease included protection from ultraviolet radiation, topical application to treat actinic keratitis, and multidisciplinary approaches by physicians. Conclusions: Even though USG in dentistry is not very common, it is a non-invasive, cost-effective, readily available and repeatable diagnostic imaging method. Thus, USG should take place as a routine diagnostic tool in dentistry, especially for patients who are medically compromised.

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Diagnosis ofXeroderma PigmentosumGroups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the FrequentXPCMutation c.1643_1644delTG

BioMed Research International ◽

10.1155/2016/2180946 ◽

2016 ◽

Vol 2016 ◽

pp. 1-7 ◽

Cited By ~ 17

Author(s):

Salima Bensenouci ◽

Lotfi Louhibi ◽

Hubert De Verneuil ◽

Khadidja Mahmoudi ◽

Nadhira Saidi-Mehtar

Keyword(s):

Xeroderma Pigmentosum ◽

Excision Repair ◽

Uv Light ◽

Genetic Diagnosis ◽

Autosomal Recessive Disorder ◽

Algerian Population ◽

Increased Risk ◽

Pcr Rflp ◽

Specific Amplification ◽

Index Cases

Xeroderma pigmentosum(XP) is a rare autosomal recessive disorder. Considering that XP patients have a defect of the nucleotide excision repair (NER) pathway which enables them to repair DNA damage caused by UV light, they have an increased risk of developing skin and eyes cancers. In the present study, we investigated the involvement of the prevalentXPAandXPCgenes mutations—nonsense mutation (c.682C>T, p.Arg228X) and a two-base-pair (2 bp) deletion (c.1643_1644delTG or p.Val548Ala fsX25), respectively—in 19 index cases from 19 unrelated families in the West of Algeria. For the genetic diagnosis ofXPAgene, we proceeded to PCR-RFLP. For theXPCgene, we validated a routine analysis which includes a specific amplification of a short region surrounding the 2 bp deletion using a fluorescent primer and fragment sizing (GeneScan size) on a sequencing gel. Among the 19 index cases, there were 17 homozygous patients for the 2 bp deletion in theXPCgene and 2 homozygous patients carrying the nonsenseXPAmutation. Finally,XPCappears to be the major disease-causing gene concerningxeroderma pigmentosumin North Africa. The use of fragment sizing is the simplest method to analyze this 2 bp deletion for the DNA samples coming from countries where the mutation c.1643_1644delTG ofXPCgene is prevalent.

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Xeroderma Pigmentosum:Man Deprived of His Right to Light

The Scientific World JOURNAL ◽

10.1155/2013/534752 ◽

2013 ◽

Vol 2013 ◽

pp. 1-8 ◽

Cited By ~ 9

Author(s):

Subhash Mareddy ◽

Jithendra Reddy ◽

Subhas Babu ◽

Preethi Balan

Keyword(s):

Western Europe ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Increased Risk ◽

The Usa ◽

Oral Isotretinoin ◽

Malignant Changes ◽

Sun Avoidance ◽

Cellular Tests ◽

Defective Dna Repair

Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. Estimated incidences vary from 1 in 20,000 in Japan to 1 in 250,000 in the USA, and approximately 2.3 per million live births in Western Europe. Diagnosis is made clinically by the presence of unusual sunburns or lentiginosis or onset of cancers at an early age. It is confirmed by cellular tests for defective DNA repair. Although there is no cure for XP as of now, skin problems can be ameliorated with the use of sunscreens, sun avoidance methods, and recurrent tumor excisions. Oral isotretinoin and topical application of 5-fluorouracil to treat actinic keratoses are other therapeutic options. T4N5 and photolyase liposomal lotions are innovations in the therapy of XP. Genetic counselling implicating the effect of consanguineous marriages should be considered in the management of XP patients.

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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

10.21203/rs.2.17759/v2 ◽

2020 ◽

Author(s):

Sarah Catharina Grünert ◽

Jörn Oliver Sass

Keyword(s):

Autosomal Recessive ◽

Coenzyme A ◽

Autosomal Recessive Disorder ◽

First Year ◽

Metabolic Decompensation ◽

Term Outcome ◽

Long Term Outcome ◽

Lyase Deficiency ◽

First Year Of Life

Abstract Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL . Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided. Results More than 95 % of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4 % already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6 % of patients showing normal development. Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

10.21203/rs.2.17759/v1 ◽

2019 ◽

Author(s):

Sarah Catharina Grünert ◽

Jörn Oliver Sass

Keyword(s):

Autosomal Recessive ◽

Coenzyme A ◽

Autosomal Recessive Disorder ◽

First Year ◽

Metabolic Decompensation ◽

Term Outcome ◽

Long Term Outcome ◽

Lyase Deficiency ◽

First Year Of Life

Abstract Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL .Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided.Results More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development.Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

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APRT deficiency: the need for early diagnosis

BMJ Case Reports ◽

10.1136/bcr-2018-225742 ◽

2018 ◽

pp. bcr-2018-225742

Author(s):

Aamira Huq ◽

Kushma Nand ◽

Rajiv Juneja ◽

Ingrid Winship

Keyword(s):

Early Diagnosis ◽

Autosomal Recessive ◽

Rare Condition ◽

Autosomal Recessive Disorder ◽

Signs And Symptoms ◽

Kidney Donation ◽

Shortness Of Breath ◽

Adenine Phosphoribosyltransferase ◽

Poorly Soluble ◽

Aprt Deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.

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Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus

Journal of Medicine ◽

10.3329/jom.v13i1.10083 ◽

1970 ◽

Vol 13 (1) ◽

pp. 97-99

Author(s):

Monzoor Quader ◽

Mohammad Syedul Islam ◽

Quazi Mamatz Uddin Ahmed ◽

Md Abul Kalam Azad ◽

Md Abdur Rahim

Keyword(s):

Diabetes Mellitus ◽

Renal Cell Carcinoma ◽

Mental Retardation ◽

Central Obesity ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Cone Dystrophy ◽

Learning Difficulty ◽

Bardet Biedl Syndrome ◽

Increased Risk

A 13 year old boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and testis. Retinitis pigmentosa was found on fundoscopy. With these typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Beidle syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males, renal dysfunction with increased risk for renal cell carcinoma. DOI: http://dx.doi.org/10.3329/jom.v13i1.10083 JOM 2012; 13(1): 97-99

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