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Xeroderma
Xerodermia
Presentation
- The lid lesion had been present for the last one month. The disease had been present for past five years with polymorphous, erythematous lesions all over the body.[ncbi.nlm.nih.gov]
- The second case presented with melanoma of the scalp in a 10 year old female child. The details of these cases are presented and the management.[ncbi.nlm.nih.gov]
- A 3-year-old girl presented to the Eye Hospital, Blantyre, Malawi, with multiple ulcerating lesions on her face and in her eyes. Her skin was freckled, with hypopigmented and hyperpigmented areas (poikilodermia) typical of xeroderma pigmentosa.[ncbi.nlm.nih.gov]
- The repair capacity was still present in cells with trace levels of the XPA protein.[ncbi.nlm.nih.gov]
- In the fifth months the girl presented with bad non salvageable rejection that ended up loosing the flap. On long term follow up, the girl started to develop skin lesion on the virgin half of the face.[ncbi.nlm.nih.gov]
Entire Body System
Falling
- The patient had well-documented signs of delayed fine motor (eg, difficulty with writing, coloring, cutting) and gross motor control (eg, balance and coordination dysfunction and falling while running), and delayed speech.[ncbi.nlm.nih.gov]
- The life expectancy of most patients falls between these extremes. Diagnosis requires tests on skin or blood samples.[lesvampires.org]
- Patients with the XP-CS complex fall into three XP complementation groups.[neurology.org]
- NER defective cells from XP patients fall into seven complementation groups (XP-A through XP-G). PTC mutations, which may produce abnormal, short proteins (or no protein at all by NMD), have been identified in 15 percent of XP-C patients.[home.ccr.cancer.gov]
- […] bloodshot ectropion, a turning out of the edge of the eyelid inflammation (keratitis) of the cornea, the clear part of the front of the eye that lets light through cloudiness of the cornea darkening of the skin of the eyelids; sometimes the eyelashes fall[verywell.com]
Asymptomatic
- Further investigation is needed to examine the effect of chiropractic on locomotion in both symptomatic and asymptomatic patients.[ncbi.nlm.nih.gov]
- Robbins JH, Brumback RA, Moshell AN (1993) Clinically asymptomatic xerodermapigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair. European Neurology 33:188-190.[omicsgroup.org]
- What you should be alert for in the history Xeroderma pigmentosum (XP) is a rare genetic disease characterized by a spectrum of clinical phenotypes ranging from mild almost asymptomatic disease to severe sensitivity to ultraviolet radiation and neurological[dermatologyadvisor.com]
Painter
- ., and Painter, R. B., J. Cell Biol., 29, 11 (1966). 10 Painter, R. B., and Cleaver, J. E., Nature, 216, 369 (1967). 11 Cook, J. S., and McGrath, J. R., Proc. US Nat. Acad. Sci., 58, 115, 1359 (1967). 12 Cleaver, J. E., Biochem. Biophys. Res.[nature.com]
- . , 24 , 569 (1966). 13 Painter, R. B., and Rasmussen, R. E., Nature , 201 , 162 (1964). 14 Rasmussen, R. E., and Painter, R. B., Nature , 203 , 1360 (1964). 15 Cleaver, J. E., Radiat. Res. , 30 , 795 (1967). 16 Flamm, W. G., Bond, H.[nature.com]
Gastrointestinal
Overeating
- Repeated application (typically over a few days) of emollients or skin lotions/creams to the affected area will likely result in quick alleviation of xeroderma.[en.wikipedia.org]
- The disease had been present for past five years with polymorphous, erythematous lesions all over the body.[ncbi.nlm.nih.gov]
- Recognized in the late 1800 by Maritz Kaposi it has been reported world wide and in all races with an over prevalence of 1-4 per million population. Kunwar et al.[ncbi.nlm.nih.gov]
- Exposure to the sun over time causes the skin to become darker, dry, and parchment-like. Even in children, the skin looks like the skin of farmers and sailors who have been in the sun for many years.[verywell.com]
- [Hematoxylin and eosin staining or H&E: 10 ] Click here to view A 19-year-old female appeared with complaints of swelling over the chin on the right side over the past 6 months.[atmph.org]
Musculoskeletal
Small Head
- 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]
- Neurological symptoms of De Sanctis-Cacchione syndrome and some XP subtypes can include: slow or no reflexes poor motor skills small head size (microcephaly) developmental delays muscle rigidity, spasticity, or weakness poor control of bodily movement[healthline.com]
Skin
Skin Lesion
- In addition to this, the girl did not develop skin lesions in the operated side of the face.[ncbi.nlm.nih.gov]
- Individuals should be taught to recognize new lesions and monitor for any changes, including size and color, in pre-existing skin lesions.[therapeutique-dermatologique.org]
- Biopsy (surgical removal of a small piece of tissue) of suspicious skin lesions for examination under a microscope Collection of a cheek cell sample, obtained by twirling a soft brush against the inside of the cheek Collection of a hair sample for microscopic[clinicaltrials.gov]
- If you have a specific question or concern about a skin lesion or disease, please consult a dermatologist.[aocd.org]
- Early surgical removal of skin lesions. Regular neurological review and hearing tests.[patient.info]
Pruritus
- Add to cart 41% Add to wishlist URIAGE Pruriced Creme Apaisante, 100ml Available 14,70 8,71 Face & Body Lotion for treating pruritus of atopic dermatitis, dermatititda by contact, exfoliative dermatitis, herpes zoster.[ofarmakopoiosmou.gr]
Neurologic
Ataxia
- Central among these is ataxia telangiectasia and Rad3-related (ATR), a protein kinase involved in intracellular signaling in response to DNA damage, especially DNA damage-induced replicative stresses.[ncbi.nlm.nih.gov]
- […] with defective DNA repair 2016 2017 2018 2019 Billable/Specific Code Applicable To Ataxia telangiectasia [Louis-Bar] Type 2 Excludes Cockayne's syndrome ( Q87.1 ) other disorders of purine and pyrimidine metabolism ( E79.- ) xeroderma pigmentosum ( Q82.1[icd10data.com]
- The problems include microcephaly, spasticity, hyporeflexia or areflexia, ataxia, chorea, motor neuron signs or segmental demyelination, sensorineural deafness, supranuclear ophthalmoplegia, and mental retardation.[aocd.org]
- In group D showing children of short stature, brittle hair and low intelligence, in Group C will get ataxia.[flipper.diff.org]
- These include acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, spasticity, ataxia, seizures and progressive cognitive impairment.[orpha.net]
Chorea
- The problems include microcephaly, spasticity, hyporeflexia or areflexia, ataxia, chorea, motor neuron signs or segmental demyelination, sensorineural deafness, supranuclear ophthalmoplegia, and mental retardation.[aocd.org]
- Other neurological deficits include nerve deafness (high-frequency hearing loss), microcephaly, abnormal motor activity (spasticity, ataxia, chorea, spasticity, difficulty swallowing) and progressive neural degeneration.[dermatologyadvisor.com]
Treatment
- Here with, we are reporting a case of carcinoma esophagus with XP, who tolerated the treatment well with sufficiently prolonged palliation of symptoms, after treatment with external beam radiotherapy.[ncbi.nlm.nih.gov]
- BaP treatment increased the DNA damage marker γ-H2AX and ultraviolet (UV) sensitivity, supporting an impairment of DNA repair in BaP-treated cells.[ncbi.nlm.nih.gov]
- Making this diagnosis is imperative as the biological behavior of Trichilemmal carcinoma is less aggressive than that of other epithelial malignancies, requiring a different approach to treatment planning.[ncbi.nlm.nih.gov]
- Before, during, and after treatment, biopsies of all suspicious lesions were performed, and skin cancers were surgically removed. The patients had a total of 121 tumors (mean, 24; range, 8 to 43) in the two-year interval before treatment.[nejm.org]
- The recurring cancer occurring on the face and repeated surgical treatment for the ulcerations have important social and psychological implications not encountered with other cancers. We report two cases of BCC and melanoma.[ncbi.nlm.nih.gov]
Prognosis
- Prognosis The prognosis varies with the severity of the genetic disorder, the success in avoiding UV light and vigilance of screening.[patient.info]
- Prognosis There is no cure for XP but sun avoidance and regular follow-up to assess and treat any skin cancers increases life expectancy. For those with no neurological disease and rigorous UV protection, the prognosis is good.[orpha.net]
- (Outcomes/Resolutions) Xeroderma Pigmentosa is an inherited genetic disorder with a poor prognosis.[dovemed.com]
- The prognosis is good in patients without neurological disorders and scrupulously protect from UV rays.[flipper.diff.org]
Etiology
- They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
- Etiology XP is caused by mutations in 8 genes involved in DNA repair. Seven of these genes, XPA to XPG ( ERCC5 ), are involved in nucleotide excision repair (NER).[orpha.net]
- (Etiology) Xeroderma Pigmentosa is an infrequent genetic condition that is inherited in an autosomal recessive pattern XP is caused by mutations in the genes that are needed to repair the DNA.[dovemed.com]
- 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]
Epidemiology
- Summary Epidemiology It has an estimated prevalence of 1/1,000,000 in the USA and Europe, with higher figures in other countries (e.g. Japan, North Africa and Pakistan), particularly in communities with a high degree of consanguinity.[orpha.net]
- For controls we will compare XP heterozygotes to their non-carrier blood relatives and spouses and to the Surveillance, Epidemiology and End Results (SEER) rates.[clinicaltrials.gov]
- 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]
Sex distribution
Age distribution
Pathophysiology
- 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]
Prevention
- As a preventive measure, such products may be rubbed onto the affected area as needed (often every other day) to prevent dry skin. The skin is then patted dry to prevent removal of natural lipids from the skin.[en.wikipedia.org]
- A complete protection from sunlight is the most effective measure to prevent progression of the condition Nevertheless, the prognosis of Xeroderma Pigmentosa is poor.[dovemed.com]
- Since it is the UV light that causes damage, a big part of prevention of problems is protecting the skin and eyes from sunlight.[verywell.com]
- “Our initial aim was to back research, but with the psychological and financial hardship experienced by families we have made support for individuals, prevention, early diagnosis and information for doctors our priority.[eurordis.org]
- The immunosuppressive effects prevent removal of abnormal cells with tumorigenic potential.[dermatologyadvisor.com]