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Xeroderma Pigmentosum Complementation Group B

XP


Presentation

  • Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities.[uniprot.org]
  • 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]
  • Results: : XPD protein is present in all mouse retina cell types, including photoreceptors and their precursors. Co-immunoprecipitation showed that XPD interacts not only with NR2E3, but also the cone-rod homeobox CRX and bZIP factor NRL.[iovs.arvojournals.org]
  • The first presentation of skin cancer in XP is usually at approximately 2 years of age [ 8 ].[mdpi.com]
Short Stature
  • 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]
  • Patients with CS have a combination of sun sensitivity, short stature, severe neurologic abnormalities due to dysmyelination, cataracts, dental caries, a wizened appearance, and a characteristic bird-like facies.[ommbid.mhmedical.com]
Progressive Mental Retardation
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]
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]
Freckles
  • The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities.[uniprot.org]
  • The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features.[malacards.org]
  • The skin develops marked freckling and other pigmentation abnormalities. {ECO:0000269 PubMed:10447254, ECO:0000269 PubMed:10766188, ECO:0000269 PubMed:17355181, ECO:0000269 PubMed:17682058, ECO:0000269 PubMed:19609301, ECO:0000269 PubMed:8298653}.[genecards.org]
  • (A and E) Face photographs of patients 1 and 2 demonstrating prominent skin freckling (patient 1) or scarring (open arrows) at the sites of prior basal cell carcinoma resections (patient 2).[ng.neurology.org]
Dry Hair
  • The sister had head circunference of 53 cm (-1DP), her weight was 47kg (p3-5) and height was 1,56 cm (p10), she had dry hair, sparse eyebrows, and a skin lesion in the right anterior cervical region with a descamative aspect.[ashg.org]
  • 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]
Sparse Eyebrows
  • The sister had head circunference of 53 cm (-1DP), her weight was 47kg (p3-5) and height was 1,56 cm (p10), she had dry hair, sparse eyebrows, and a skin lesion in the right anterior cervical region with a descamative aspect.[ashg.org]
Forgetful
  • Forget, A. Rojas, Z. F. Burton, and B. Coulombe, unpublished data).[mcb.asm.org]
  • . , Forget , D. , Enzlin , J. H. , Scharer , O. D. , Coin , F. , Coulombe , B. & Egly , J. M. ( 2004 ). Ordered conformational changes in damaged DNA induced by nucleotide excision repair factors .[cambridge.org]
Dysautonomia
  • 2014 17 Effect of point substitutions within the minimal DNA-binding domain of xeroderma pigmentosum group A protein on interaction with DNA intermediates of nucleotide excision repair. ( 25100013 ) Maltseva E.A....Rechkunova N.I. 2014 18 Progressive dysautonomia[malacards.org]

Treatment

  • 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]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • After either treatment, the plates were incubated for 5 additional days.[cancerres.aacrjournals.org]
  • Also compounds inducing double strand DNA damage, 8-methoxypsoralen UVA, mitomycin C, and nitrogen mustard have been under investigation including their importance in psoriasis treatment and Fanconi anemia.[books.google.com]

Prognosis

  • Association between XPF expression and prognosis of gastric cancer.[spandidos-publications.com]
  • The low socioeconomic level was responsible for the delay of treatment in clinical case 3, which had a considerable influence on the prognosis.[karger.com]
  • XP patients without neurological symptoms, who are diagnosed at an early age and carry out stringent UV protection have a relatively good prognosis [ 17 ].[mdpi.com]
  • Despite a favorable prognosis, 10-20% of BOTs exhibit progressively worsening clinic. Primary involvement of pelvic organs with echinococcus is very rare. Lymphoepithelioma-like gastric carcinoma is a rare neoplasm of the stomach.[worldwidescience.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • More than 340 genetic diseases have been identified in the Tunisian population and the genetic etiologies are known for only 50% of these diseases ( Romdhane et al., 2011 ). Kasserine is a region in the Central West of Tunisia.[frontiersin.org]

Epidemiology

  • ): - 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]
  • Genatlas disease for XPC Gene xeroderma pigmentosum,group C (common form),with associated TP53 mutations in skin and internal tumors (glioma) Relevant External Links for XPC Genetic Association Database (GAD) XPC Human Genome Epidemiology (HuGE) Navigator[genecards.org]
  • Science.gov (United States) Gosvig, Camilla F; Kjaer, Susanne K; Blaakà r, Jan; Hà gdall, Estrid; Hà gdall, Claus; Jensen, Allan 2015-01-01 Epidemiological studies that have investigated the association between coffee, tea and caffeine consumption and[worldwidescience.org]
  • Clinical and molecular epidemiological study of xeroderma pigmentosum in China: a case series of 19 patients. J. Dermatol. 44, 71–75. doi: 10.1111/1346-8138.13576 PubMed Abstract CrossRef Full Text Google Scholar[frontiersin.org]
Sex distribution
Age distribution

Prevention

  • In contrast, the mechanism by which the XPE gene product prevents sunlight-induced cancers is not known.[thebiogrid.org]
  • Footnotes Support Grants from NIH R01 EY012543-10 (to SC) and P30 EY02687 (to WU-DOVS), Research to Prevent Blindness (to SC and WU-DOVS) and Knights Templar Eye Foundation (to XZ) Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1679.[iovs.arvojournals.org]
  • Mutations in the C-terminal domain of ERCC2 is found in most XPD patients and these mutations prevent its interaction with p44.[themedicalbiochemistrypage.org]
  • Standard Therapies Prevention Rigorous sun (UV) protection is necessary beginning as soon as the diagnosis is suspected to prevent continued DNA damage and disease progression.[rarediseases.org]
  • One important function of uracil-DNA glycosylases is to prevent mutagenesis by...[antibodies-online.com]

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