Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP-CS, with facial phenotype of CS, and CNS demyelination.
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PMID:Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association. 2275 38

Alzheimer's disease (AD) is characterized by a cluster of signs and symptoms manifesting with difficulties in memory, language disturbances, psychological and psychiatric changes and difficulty in carrying out daily activities. Although it may seem to be far from a dermatologic competence, the ageing of populations in industrialized and developing countries has changed things making AD a multidisciplinary question. Indeed, this neurodegenerative disorder is not exclusively neurological, but rather may involve multiple tissues and organs. The abnormalities in metabolic and biochemical processes described in affected brains are also present in the skin and may condition specific dermatological manifestations. In fact, although a history of non-melanoma skin cancer is linked to a significantly reduced risk of developing AD, this is not so for melanoma. Several biological, social and environmental hypotheses can be advanced to explain these correlations. AD patients' memory problems and the partial inability to express an informed consent, could make a simple tumour excision challenging for a dermatologic surgeon. Moreover, attention should also be paid to the possibility of pharmacological interactions with AD therapies and to surgery timing. Observational studies have provided evidence for a non-spurious correlation between bullous pemphigoid (BP) and dementia. The demonstration of neurological isoforms of both BP180 and BP230 in the central nervous system has provided partial explanations for these findings and raised the question as to whether AD patients should be given accurate screening for BP and vice versa. Some adverse skin reactions have been observed with AD drugs and although mainly localized others are diffuse. Importantly, some of these drugs are available for administration in a patch or systemic form. When dealing with bedridden patients, the skin examination should be as complete as possible, since ulcer location is not only influenced by pressure and paratonia but also by spasticity, conditioning wounds in atypical sites.
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PMID:The Alzheimer patient from the dermatologist's point of view. 3302 13