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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multi-modality evoked potentials in two cases, who were siblings, of De Sanctis-Cacchione syndrome were reported. The case 1, who was elder sister of the case 2, was a 25-year-old female. And the case 2 was a 23-year-old female. They have the history of consanguinity. They were first noted to have skin erythema on exposure to sunlight, and a diagnosis of xeroderma pigmentosum was made. At the childhood neurological manifestation, such as mental retardation, deafness and muscular weakness developed gradually. The case 2, who was a elder sister, was operated on for squamous cell carcinoma of the eyelid at the age of 20 and 21 years old. Motor conduction velocity obtained from lower limbs were severely reduced and that from upper limbs were moderately delayed. Sensory conduction velocity of median nerve were severely diminished. Auditory brainstem responses (ABR) of the case 1 showed the prolongation in interpeak latency of I-V. ABR of the case 2 could not be obtained. N19 and N13 of short-latency somatosensory evoked potentials (SSEP) to median nerve stimulation with case 2 could not be obtained too. N13-N19 latency of case 1 was remarkably prolonged compared to the normal subjects. Central motor conduction time (CMCT) was studied in case 2 by using the magnetic stimulator. CMCT of case 2 was within the upper limit of normal control. Interpeak latency of I-V in ABR represents the brainstem dysfunction in auditory pathway, and interpeak latency of N13-N19 in SSEP was recognized as central conduction time from medial lemniscus to primary sensory area of cortex. So the prolongation of these interpeak latency in this cases may mean the dysfunction in the central nervous system.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome]. 261 4

Xeroderma pigmentosum associated with neurological abnormalities is a less familiar neurocutaneous disorder. In this report, 35 patients with group A xeroderma pigmentosum were assessed for neurological complications. Of these, 17 showed microcephaly and 24 mental retardation. Of 25 patients over 7 years of age, 22 had sensorineural deafness and 12 showed spinocerebellar signs such as nystagmus, dysarthria, tremor and ataxia, while none below 7 years of age had such neurological complications. Thirty-five EEG studies were performed on 29 patients, and 15 showed intermittent spindles of grouped theta waves with abnormal slow background activity and a poorly developed alpha rhythm, suggesting immature brain development or a regression from normal brain function in many areas including the diencephalon. Twenty-six patients were examined by cranial CT scan, of whom 20 showed abnormal CT findings such as ventricular dilatation, diffuse cortical atrophy, and marked thickening of the calvarial bones. The incidence of abnormal EEG and CT findings increased with advancing age in accordance with the development of neurological complications in the CNS, thus suggesting a chronic progressive degenerative disease.
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PMID:EEG and CT abnormalities in xeroderma pigmentosum. 281 76

A 65-year-old patient with xeroderma pigmentosum (XP), XP77TO, was assigned to complementation Group D by the cell-fusion study and comprised the fifth Group D case in Japan. The patient had mild solar sensitivity by age 7, dyspigmentation by 10 years, and he still currently has moderate symptoms. The skin phototest by 290, 300 and 305 nm monochromatic ultraviolet (UV) light revealed a delayed peak of erythema 48 h post-irradiation and lowered minimal erythemal doses. The XP77TO skin fibroblasts, as well as a reference Group D strain, exhibited the same 7-fold higher sensitivity to the lethal effect of 254 nm UV as did normal cells. Unscheduled DNA synthesis (UDS) induced in XP77TO cells by 254 nm UV (10 J/m2) was 42% of normal, falling into the Group D range of 25-50% UDS. In spite of such a similar cellular phenotype, XP77TO developed squamous cell carcinomas at 44 and 65 years of age and audiometric sensorineural deafness in a delayed fashion at advanced age.
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PMID:Delayed sensorineural deafness and skin carcinogenesis in a Japanese xeroderma pigmentosum group D patient. 339 39

Quantitative frequencies of clinical abnormalities in xeroderma pigmentosum were estimated by abstracting published descriptions of 830 patients in 297 articles obtained from a survey of the medical literature from 1874 to 1982. The median patient age was 12 years with nearly equal numbers of male and female patients. Cutaneous symptoms (sun sensitivity or freckling) had a median age of onset of between 1 and 2 years. Forty-five percent of the patients described had basal cell carcinoma or squamous cell carcinoma of the skin. The median age of first nonmelanoma skin cancer among patients with xeroderma pigmentosum was 8 years, more than 50 years less than that among patients with skin cancer in the United States. Melanomas were reported in 5% of patients. Ninety-seven percent of the reported basal and squamous cell carcinomas and 65% of the melanomas in patients with xeroderma pigmentosum occurred on the face, head, or neck. Seventy percent probability of survival was attained at age 40 years, a 28-year reduction in comparison with the US general population. Ocular abnormalities were reported in 40% of the patients described and were restricted to tissues exposed to ultraviolet radiation (lid, conjunctiva, and cornea) and included ectropion, corneal opacity leading to blindness, and neoplasms. Neurologic abnormalities were found in 18% of the cases reported, consisting of progressive mental deterioration, hyporeflexia or areflexia, and progressive deafness in some patients in association with dwarfism and immature sexual development. There was scant information concerning the efficacy of any therapeutic regimen.
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PMID:Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 354 87

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
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PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

Xeroderma pigmentosum (XP) is an autosomal recessive disorder with hypersensitivity to the lethal effects of ultraviolet radiation caused by inherited defects in deoxyribonucleic acid (DNA) repair processes. Some patients with XP develop a primary neuronal degeneration which has been thought to result from unrepaired damage in neuronal DNA. Five years ago we reported that cultured skin fibroblasts from a 12-year-old girl with XP, who then had only one major neurological abnormality of the disease, had a sensitivity to ultraviolet radiation intermediate between that of XP patients with numerous neurological abnormalities and those with none. Recent neurological studies reveal that she has a slowly but progressively developing sensorineural deafness as well as cerebellar and motor dysfunction typical of XP. The results support the postulate that defective DNA repair is associated with premature neuron death.
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PMID:Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum. 688 31

A 12-year-old girl developed ataxia that gradually progressed. At age 18 the patient presented with mental retardation, cachectic dwarfism, microcephalus, and a progeroid appearance but no photosensitive skin lesions or deafness. On analysis of fibroblasts, unscheduled DNA synthesis was reduced to 50% of normal, but colony-forming ability after ultraviolet irradiation was normal. The symptoms and phenotype of the patient were distinguished from those in Cockayne syndrome and xeroderma pigmentosum. This case is interesting because the defect in DNA repair after ultraviolet irradiation was detected in a patient with neurologic disturbances but without photosensitive skin lesions.
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PMID:A DNA repair defect in a patient with ataxia, mental retardation, and short stature. 958 36

We present a male patient with photosensitivity since the earliest months of his life, and pigmented macules in exposed areas, some showing clinical atypia, which increased in number over time. Molecular biology studies detected an alteration in DNA repair ability, so xeroderma pigmentosum was diagnosed. Shortly after birth, low weight, microcephaly and psychomotor retardation had been observed, but the cause was not established. The patient progressively showed neurological disorders that included perceptive deafness, hyporeflexia and areflexia, as well as choreoathetotic movements. Therefore, we felt that the patient's symptoms fit De Sanctis-Cacchione syndrome.
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PMID:[De Sanctis-Cacchione syndrome]. 1647 2

Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes. Three NER genes are also part of the basal transcription factor, TFIIH. Mutations in 11 NER genes have been associated with clinical diseases with at least eight overlapping phenotypes. The clinical features of these patients have some similarities but also have marked differences. NER is involved in protection against sunlight-induced DNA damage. While XP patients have 1000-fold increase in susceptibility to skin cancer, TTD and CS patients have normal skin cancer risk. Several of the genes involved in NER also affect somatic growth and development. Some patients have short stature and immature sexual development. TTD patients have sulfur deficient brittle hair. Progressive sensorineural deafness is an early feature of XP and CS. Many of these clinical diseases are associated with developmental delay and progressive neurological degeneration. The main neuropathology of XP is a primary neuronal degeneration. In contrast, CS and TTD patients have reduced myelination of the brain. These complex neurological abnormalities are not related to sunlight exposure but may be caused by developmental defects as well as faulty repair of DNA damage to neuronal cells induced by oxidative metabolism or other endogenous processes.
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PMID:Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. 1727 14

We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his lips. He shows absent deep tendon reflexes, progressive sensorineural deafness and progressive mental retardation. MRI shows diffuse frontal cerebral atrophy and dilated ventricles. Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. XP2GO fibroblasts showed reduced post-UV cell survival (D(37) = 3.8 J/m(2)), reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39). The latter mutation potentially behaves as a null allele. While not preventing neurological degeneration, early diagnosis and rigorous sun protection can result in minimal skin disease without cancer in XP patients.
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PMID:Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 1863 29


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