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Xeroderma Pigmentosum Complementation Group F

XP


Presentation

  • Among XP, XP-F presents relatively uniquely in Japanese. To clarify the characteristics of this group, we describe a case of XP-F and review Japanese cases previously reported.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Camping
  • The Group raises funds for research, gives grants for UV protective equipment and products, assists families to attend night time camps in the UK, USA, France & Germany or respite in a protective environment[xpsupportgroup.org.uk]
Large Ears
  • There are several subtypes of COFS all of which are characterized by progressive neurologic disorder, microcephaly (small head) with intracranial calcifications, prominent noses, large ears, hypotonia, and growth failure.[themedicalbiochemistrypage.org]
Large Hand
  • In addition patients exhibit cutaneous sensitive to sunlight, thin dry hair, short stature, , disproportionately long limbs with large hands and feet, sensorineural hearing loss, and have the appearance of premature aging.[themedicalbiochemistrypage.org]
Eczema
  • Vascular birthmarks - printable version Close PUBLISHED Oct 2016 Venous eczema Venous eczema is also known as varicose or stasis eczema and is the name given to a type of eczema on the lower leg.[bad.org.uk]
  • The skin showed mild xerosis with eczema on the trunk.[ijtrichology.com]
  • Erythema ab igne in a child with atopic eczema. Clin Exp Dermatol 1999;24:336-9. 98. Giraldi S, Diettrich F, Abbage KT, Carvalho Vde O, Marinoni LP. Erythema ab igne induced by a laptop computer in an adolescent.[e-ijd.org]
Dry Hair
  • In addition patients exhibit cutaneous sensitive to sunlight, thin dry hair, short stature, , disproportionately long limbs with large hands and feet, sensorineural hearing loss, and have the appearance of premature aging.[themedicalbiochemistrypage.org]
Kinky Hair
  • Hautarzt 32:67–74 Google Scholar Calderon R, Gonzalez-Cantú N (1979) Kinky hair, photosensitivity, broken eyebrows and eyelashes, and non-progressive mental retardation. J Pediatr 95:1007–1008 Google Scholar Cleaver JE (1983) Xeroderma pigmentosum.[link.springer.com]
Ataxia
  • The association of ataxia, chorea, and sun hypersensitivity are major guidance for the diagnosis, which should not be missed, in order to prevent skin neoplastic complications.[ncbi.nlm.nih.gov]
  • Patient 2 A 52-year-old woman of Ashkenazi Jewish descent presented with a 20-year history of progressive dystonia, gait ataxia, hearing loss, and worsening cognition.[ng.neurology.org]
  • ., dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia and decreased nerve conduction velocities.[medical-dictionary.thefreedictionary.com]
  • Abstract Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders.[nature.com]
Gait Ataxia
  • Patient 2 A 52-year-old woman of Ashkenazi Jewish descent presented with a 20-year history of progressive dystonia, gait ataxia, hearing loss, and worsening cognition.[ng.neurology.org]
Absent Ankle Reflex
  • On neurologic examination, she demonstrated mild chorea of her extremities and face, limb ataxia, absent ankle reflexes, and impaired gait. She had 1 sibling with MS but no other similarly affected relatives ( figure 1B ).[ng.neurology.org]
Excitement
  • The plate was then read on a FluoroCount (Packard, Meriden, CT) fluorometer using an excitation filter of 530 nm and an emission filter of 620 nm.[cancerres.aacrjournals.org]

Workup

  • Refinement of immunohistochemical testing and scoring for XP pathway protein components has the potential to help in initial pathologic screens for patients with clinical suspicion and may become part of routine workup, particularly in centers that experience[karger.com]

Treatment

  • Rigel, Robinson, Ross, Friedman, Cockerell, Lim, Stockfleth, and Kirkwood, is your complete, multimedia guide to early diagnosis and effective medical and surgical treatment of melanoma and other skin cancers.[books.google.ro]
  • As the C2169A mutation is closely associated with gastric carcinogenesis in the Chinese population, our findings shine light on it as a therapeutic target for early diagnosis and treatment of gastric cancer. Copyright 2013. Published by Elsevier B.V.[ncbi.nlm.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Sandra said the national centre would enable more data to be kept and shared on patients, adding that the prognosis was much brighter for children like Alex.[news.bbc.co.uk]
  • Prognosis The prognosis of urticaria pigmentosa depends on the age of onset. UP generally begins during infancy or early childhood.[clinuvel.com]
  • Support Groups Return to top Xeroderma Pigmentosum Society -- www.xps.org XP Family Support Group -- www.xpfamilysupport.org Outlook (Prognosis) Return to top Most persons with this condition die of skin cancer early in adulthood.[elibrary.edu.np]
  • But if there is an absence of neurological problems and the individual is always protected or away from sunlight, the prognosis is good.[ipfs.io]

Etiology

  • Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS One. 2013;8(6):e64692. Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst). Jul 1 2008;7(7):1155-67.[afjho.com]
  • Although its etiology remains unclear, genetic aberrations play an important role in gastric carcinogenesis (Abnet et al., 2010).[docksci.com]
  • (Etiology) Multiple different genes and mutations are responsible for Retinitis Pigmentosa. Studies have shown that the disorder can run in the families and be inherited through a variety of inheritance modes.[dovemed.com]
  • Regardless, our experience proves that whole-exome sequencing is an efficient method that can be used for XP diagnosis and etiology classification in the future.[frontiersin.org]
  • Consanguinity Consanguinity has been implicated as an etiological factor. This has been reported to varying degrees of up to 92.8% in XP patients in Libya [ 18 ].[omicsonline.org]

Epidemiology

  • A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal [ PMID 24938470 ] Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk [ PMID 25292041 ][snpedia.com]
  • Relevant External Links for ERCC4 Genetic Association Database (GAD) ERCC4 Human Genome Epidemiology (HuGE) Navigator ERCC4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ERCC4 No data available for Genatlas for ERCC4 Gene Homozygous[genecards.org]
  • ): - XPC Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Molecular epidemiology of gastric cancer: current status and future prospects. Gastrointest. Cancer Res. 1 (1), 12–19. Hyka-Nouspikel, N., et al., 2012.[docksci.com]
  • More than 70% of all gastric cancer cases occurred in developing countries, and approximately half of all cases occur in China. 1 Many epidemiological studies suggest that Helicobacter pylori (H. pylori) infection is one of the most important risk factors[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Cleaver's seminal work in 1968 elucidated the pathophysiology of xeroderma pigmentosum by demonstrating defective DNA repair.[emedicine.medscape.com]
  • Discussion of the Underlying Pathophysiology and the Novelty of the Case The proband (IV:5) is a 36-year-old male who presented with hyperpigmented macules that appeared in early childhood.[frontiersin.org]
  • Although it is known that dysfunctional DNA repair is the primary pathogenesis in XP, growing evidence suggests that mitochondrial pathophysiology may also occur. Read More Filling gaps in translesion DNA synthesis in human cells.[pubfacts.com]
  • The pathophysiology of disease in patients with paroxysmal nocturnal hemoglobinuria. Hematology Am Soc Hematol Educ Program 2008; 2008:104-10. 31. Arepally GM, Ortel TL. Heparin-induced thrombocytopenia. N Engl J Med 2006;355;809-17. 32.[e-ijd.org]

Prevention

  • The association of ataxia, chorea, and sun hypersensitivity are major guidance for the diagnosis, which should not be missed, in order to prevent skin neoplastic complications.[ncbi.nlm.nih.gov]
  • These observations suggest that early diagnosis of XP is important in order to prevent XP-F patients from developing skin cancers.[jstage.jst.go.jp]
  • In contrast, the mechanism by which the XPE gene product prevents sunlight-induced cancers is not known.[thebiogrid.org]
  • Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med. Jun 23 1988;318(25):1633-7. Bhutto AM, Shaikh A, Nonaka S: Incidence of xeroderma pigmentosa in Larkana, Pakistan a 7-year study.[afjho.com]
  • Prevention The precise causes of urticaria pigmentosa are unknown and, therefore, the disease cannot be prevented or cured. It is, however, possible to identify factors that may trigger UP and to circumvent them.[clinuvel.com]

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