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Xeroderma Pigmentosum-Cockayne Syndrome Complex

XP-CS


Presentation

  • 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]
  • Axes presented as fragments per kilobase of exon per million fragment mapped (FPKM).[pnas.org]
  • The patients of this syndrome present with photosensitivity, freckling on sun-exposed skin, loss of subcutaneous fat from face, prominent ears, dwarfism, microcephaly, mental retardation or other neurological and eye abnormalities.[jpad.com.pk]
  • Obtain thorough guidance on clinical presentation and therapy for a full range of common and rare skin diseases.[books.google.de]
  • Few years later, the patient presented with a pearly and ulcerated lesion in his right brow. At age 21, he presented with a white, friable right conjunctival lesion that was excised and proved to be CIN with severe dysplasia.[karger.com]
Feeding Difficulties
  • The clinical course was characterised by feeding difficulties, growth failure, lack of development, photosensitivity, and death at 7 months. The main differential diagnoses were COFS syndrome and early onset Cockayne syndrome (CS).[ncbi.nlm.nih.gov]
Nail Abnormality
  • Differences include hair and nail abnormalities in XP-TTD and progeria in XP-CS. Additionally, XP neurologic disease results from primary neurodegeneration, while XP-TTD and XP-CS do not [ 7 ].[ojrd.biomedcentral.com]
Delayed Speech Development
  • Table 2 Developmental and ophthalmological features in XP-CS Intellectual disability 38/38 (100) Stature 3 rd percentile 33/34 (97) Delayed speech development 18/19 (95) Delayed or absent development of motor skills 25/28 (89) Failure to thrive 28/32[ojrd.biomedcentral.com]
High Pitched Voice
  • ., DNA repair profile, hearing loss, optic nerve atrophy, a high-pitched voice, ataxia, delayed pubertal development). In addition, his facial features as described and as evident in photographs were consistent with a CS phenotype.[ojrd.biomedcentral.com]
Vomiting
  • J-tubes alleviate vomiting and reflux. An additional advantage of tubes is that they allow easy delivery of many medicines, as well as accurate dosing. Importantly, CS patients do not appear to have the caloric needs expected for age or body size.[ojrd.biomedcentral.com]
Retinal Pigmentation
  • Ophthalmic pathology disclosed cataracts, iris and ciliary body atrophy, inner retinal atrophy and gliosis, retinal pigment epithelial atrophy, and optic nerve atrophy.[ncbi.nlm.nih.gov]
  • pigmentation is also a visible symptom.[en.wikipedia.org]
Myopathy
  • He had the characteristic CS facies, cachexia, failure of somatic and brain growth, spasticity, ataxia, pigmentary retinopathy, hearing loss, mixed peripheral neuropathy, and myopathy.[ncbi.nlm.nih.gov]
  • […] dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy[en.wikipedia.org]
Flexion Contracture
  • Facial anomalies, microphthalmia, cleft palate, small penis, and flexion contractures of large joints were noted. Cerebral MRI showed dysmyelination.[ncbi.nlm.nih.gov]
  • Skeletal features include microcephaly, kyphosis, flexion contractures of the joints, large hands and feet, and disproportionately long arms and legs.[disorders.eyes.arizona.edu]
Joint Dislocation
  • Contractures can hinder mobility, can worsen with time, and may cause joint dislocation. Strategies used for CS patients that may help in managing them in XP-CS include physiotherapy, botox injections, and heel cord lengthening procedures.[ojrd.biomedcentral.com]
Withdrawn
  • Patients who lose their hearing may feel isolated and become withdrawn and/or depressed. These factors can accelerate decline.[ojrd.biomedcentral.com]
Beak Nose
  • Facial features include sunken eyes, loss of cutaneous fat, and a beaked nose. Please visit our CS page for photos of children with CS. XP-CS may be mild, moderate, or severe.[forgottendiseases.org]
Beaked Nose
  • Facial features include sunken eyes, loss of cutaneous fat, and a beaked nose. Please visit our CS page for photos of children with CS. XP-CS may be mild, moderate, or severe.[forgottendiseases.org]
Cryptorchidism
  • 2 Developmental and ophthalmological features in XP-CS Intellectual disability 38/38 (100) Stature 3 rd percentile 33/34 (97) Delayed speech development 18/19 (95) Delayed or absent development of motor skills 25/28 (89) Failure to thrive 28/32 (88) Cryptorchidism[ojrd.biomedcentral.com]
Hand Tremor
  • tremors People with XP-CS also tend to have a similar facial appearance.[forgottendiseases.org]
  • Hand tremors were reported in 7 patients, but their absence was not noted. Tremors are common in CS, and treatment with carbidopa-levodopa appears to reduce their severity and improve fine motor skills [ 33 ].[ojrd.biomedcentral.com]
Gait Ataxia
  • ataxia (stiff, unbalanced gait) in those who can walk (many cannot walk) Microcephaly (very small head; the problem gets worse with time) Very small size (growth far below the 3rd percentile) Pigmentary abnormalities in the retina Hearing loss, which[forgottendiseases.org]
Cognitive Deficit
  • deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy.[orpha.net]

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]
Slow Nerve Conduction Velocities
  • nerve conduction velocity 12/14 (86) Seizures 8/11 (73) Brain calcifications 10/16 (63) Lost or reduced deep tendon reflexes 3/11 (27) Common imaging findings in XP-CS included intracranial calcifications, brain atrophy, and tigroid demyelination.[ojrd.biomedcentral.com]

Treatment

  • Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on DNA damage.[ncbi.nlm.nih.gov]
  • Broaden your knowledge with updated information on serological diagnosis of pemphigus, TNF-I for hidradenitis suppurativa, the use of immunosuppressives for atopic dermatitis, excimer laser for the treatment of vitiligo and much more.[books.google.de]
  • 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

  • Patients with type II present with a more severe prognosis, whereas patients with type III live into adulthood. Prognosis - Cockayne syndrome Not supplied.[checkorphan.org]
  • 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]
  • Unfortunately, the prognosis for individuals with xeroderma pigmentosum is poor – the extremely high rates of development of malignant skin cancers typically leads to death between ages 20-40.[contourderm.com]

Etiology

  • Some of CS cases have been reported to be complicated with renal failure, but the genetic background or the etiology of the renal failure has not been reported.[ncbi.nlm.nih.gov]
  • Etiology Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34).[orpha.net]
  • Consanguinity plays a very important etiological factor, as XP patients are more often than not issues of a consanguineous marriage.[ijpd.in]

Epidemiology

  • Summary Epidemiology Less than 30 cases have been describedto date. Clinical description The disease manifests during infancy.[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]
  • Test and Urticaria Activity Score correlate with quality of life in adult Japanese patients with chronic spontaneous urticaria Nakatani S, Oda Y, Washio Ken, Fukunaga Atsushi, NISHIGORI CHIKAKO Allergol Int Dec 2018 [Refereed] Cholinergic urticaria: epidemiology[researchmap.jp]
Sex distribution
Age distribution

Pathophysiology

  • Molecular studies, which have appeared elsewhere, do not provide full understanding of the pathophysiology of the postnatal growth failure, cachexia, precocious aging, selectivity of tissues affected (such as myelinated axons), and other manifestations[ncbi.nlm.nih.gov]
  • INFORMATION FOR PARENTS The pathophysiological bases of the disease and treatment must be explained to the patient or the patient’s parents. The problem may be broached as follows: “You (or your child) have (has) a genetic disorder.[therapeutique-dermatologique.org]
  • Clubbing: an update on diagnosis, differential diagnosis, pathophysiology, and clinical relevance. J Am Acad Dermatol . 2005;52(6):1020-1028. PubMed Google Scholar Crossref[jamanetwork.com]

Prevention

  • […] sunburn by use of sunglasses and sunscreen creams, and proper protective clothing Treatment of eye and hearing problems as needed Preventive care Physical therapy to prevent loss of ambulation Ensuring a safe environment to prevent falls and further[news-medical.net]
  • 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]
  • Sun protection helps everyone prevent skin cancer While people who have XP require extreme sun protection, everyone can benefit from sun protection. For most people, skin cancer is preventable.[aad.org]
  • Prevention Due to its genetic basis, XP cannot be prevented. Carriers of the disease are asymptomatic and need not worry.[clinuvel.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]

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