Symptoma

Xeroderma Pigmentosum Variant

XPV

In the present study, we reported a Chinese family with XPV phenotype, which was confirmed by histopathological results. Genetic variants were detected by polymerase chain reaction and exon sequencing. [ncbi.nlm.nih.gov]

Patients present with skin lesions, generally at the sun-exposed parts of the body which develop into skin cancer at about 20-30 years of age with a 1,000 times higher frequency than that of the general population. [orpha.net]

  • Eczema

    However only pellagra, nummular eczema, psoriasis and pigmented purpuric dermatosis were considered prevalent among alcoholic patients in comparison to the control group. [ncbi.nlm.nih.gov]

    […] softer consistency than pure lanolin, are available. [ citation needed ] Safety [ edit ] Many skin creams include common allergens such as fragrances, parabens, and lanolin. [5] Effects of Xeroderma on the hand See also [ edit ] Xeroderma pigmentosum Eczema [en.wikipedia.org]

  • Suggestibility

    Current evidence suggests that the polymerase switch from replicative to translesion polymerases might be mediated by post-translational modifications involving ubiquitination processes. [ncbi.nlm.nih.gov]

Both normal and XP variant fibroblasts, however, displayed similar PRR activities in response to BPDE-I treatment. [ncbi.nlm.nih.gov]

The word \"symptoms of Xeroderma pigmentosum, variant type\" is the more general meaning; Prognosis - Xeroderma pigmentosum- variant type Not supplied. Treatment - Xeroderma pigmentosum- variant type Not supplied. [checkorphan.org]

[…] patients. ( 30844146 ) Wang L...Ji HB 2019 3 Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D (XPD) and Glutathione S-transferase Mu 1 (GSTM1) and Theta 1 (GSTT1) genes on cutaneous melanoma susceptibility and prognosis [malacards.org]

Prognosis The prognosis varies with the severity of the genetic disorder, the success in avoiding UV light and vigilance of screening. [patient.info]

The prognosis is good in patients without neurological disorders and scrupulously protect from UV rays. [flipper.diff.org]

Etiology The disease is due to mutations in the POLH gene ( XPV ) (6p21.1-p12) encoding the error-prone DNA-polymerase eta (pol-eta) which performs trans-lesion synthesis past ultraviolet (UV) photoproducts. [orpha.net]

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS One. 2013. 8(6):e64692. [PubMed] [Free full text] Soen M, Kagawa T, Uokawa R, Suzuki T. [apicareonline.com]

It is believed to be associated with periods of high alcohol ingestion. 7 Chronic purpura pigmentosa is a condition of unknown etiology, characterized by a chronic inflammatory process of the vascular wall. [ncbi.nlm.nih.gov]

Etiology Pathophysiology XP is an autosomal recessive disease characterized by defective nucleotide excision repair (XP-A to XP-G) or post-replication repair (XP-variant). Each type of XP is characterized by a specific gene mutation. [dermatologyadvisor.com]

Summary Epidemiology It is observed in approximately 20% of XP patients and approximately 50 cases have been reported in the literature. Clinical description It is often diagnosed in the late teens or early 20s. [orpha.net]

EPIDEMIOLOGY This disease involves both sexes and all races, with an incidence of 1:250.000 in the United States and a gene frequency of 1:200. XP is roughly six times more common in Japanese people than in other groups. [flipper.diff.org]

Epidemiology [ 1 ] XP is very rare but appears to be present throughout the world and in every ethnic group. There are currently approximately 100 diagnosed cases in the UK. The incidence in the USA is estimated as 1 in 1 million. [patient.info]

OUTLINE EPIDEMIOLOGY CHARACTERIZATION SYNONYMS INCIDENCE/ PREVALENCE AGE SEX GEOGRAPHY Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study. Bhutto AM, Shaikh A, Nonaka S. [thedoctorsdoctor.com]

A history of consanguinity may be elicited in about 30% of the cases. [8] The pathophysiology and genetic basis of XP is complex. UV radiation elicits the formation of pyrimidine-dimers of adjoining thymidine residues in the same DNA strand. [ijpmonline.org]

Etiology Pathophysiology XP is an autosomal recessive disease characterized by defective nucleotide excision repair (XP-A to XP-G) or post-replication repair (XP-variant). Each type of XP is characterized by a specific gene mutation. [dermatologyadvisor.com]

Therefore, the isotretinoin treatment seems to be a good approach for cancer prevention in conditions with high predisposition to skin cancer, such as in XP-V. [ncbi.nlm.nih.gov]

Prevention - Xeroderma pigmentosum- variant type Not supplied. [checkorphan.org]

Total protection from sunlight prevents the development of lesions. xe·ro·der·ma pig·men·to·'sum [MIM*278700] an eruption of exposed skin occurring in childhood and characterized by photosensitivity with severe sunburn in infancy and the development of [medical-dictionary.thefreedictionary.com]

As a preventive measure, such products may be rubbed onto the affected area as needed (often every other day) to prevent dry skin. [en.wikipedia.org]