Presentation
[…] neurologic manifestation Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 278800 UMLS: C0265201 MeSH: C535992 GARD: 8276 MedDRA: - Summary This disease has been moved to Xeroderma pigmentosum The documents contained in this web site are presented [orpha.net]
In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. [uniprot.org]
Noataxia or progressive neurologicaldisorder was present. Dermatoglyphicpattern in both the hands was as follows:arch pattern at finger tips was observedin all fingers except both thumbs. [docslide.com.br]
Musculoskeletal
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Muscle Weakness
There was diffuse muscle weakness with foot deformity, ataxia and positive Babinski's sign. Because UDS measured by autoradiography showed less than 2%, a diagnosis of De Sanctis-Cacchione syndrome was made. [jstage.jst.go.jp]
weakness Vitamin D-dependent rickets, type I VLCAD deficiency Vohwinkel syndrome v von Hippel-Lindau syndrome von Willebrand disease, type 1 von Willebrand disease, types 2ABM, and 2N von Willibrand disease, type 3 W Waardenburg syndrome, type 4A Waardenburg [lk.genotek.ru]
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Foot Deformity
There was diffuse muscle weakness with foot deformity, ataxia and positive Babinski's sign. Because UDS measured by autoradiography showed less than 2%, a diagnosis of De Sanctis-Cacchione syndrome was made. [jstage.jst.go.jp]
[…] telangiectatica congenita Chondrocalcinosis 2 Plagiocephaly and X-linked mental retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot [checkrare.com]
Skin
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Papular Rash
rash mainly overthe exposed parts of the body, failureto thrive and delayed milestones. [docslide.com.br]
Ears
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Hearing Impairment
impairment 0000407 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Telangiectasia 0001009 Showing of 25 Last updated: 5/1/2019 Making a [rarediseases.info.nih.gov]
抄録 A 15-year-old girl is presented who has a clinical feature of de Sanctis-Cacchione syndrome xerodermia pigmentosum complicated with neurological abnormalities, such as microcephaly, mental retardation, difficulty in hearing, impaired speech, gait disturbance [jstage.jst.go.jp]
Other abnormalities may include an unusually small head (microcephaly); hearing impairment (sensorineural deafness); absent (areflexia) or weakened (hyporeflexia) reflexes; and/or increased rigidity in some muscles causing stiffness and limitation of [rarediseases.org]
These individuals have characteristics of both disorders, including an increased predisposition to cutaneous neoplasms and developmental delay, visual and hearing impairment, and central and peripheral nervous system dysfunction. [renaldo.hassanflores.com]
Psychiatrical
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Aggressive Behavior
Acral lentiginous melanomas are overrepresented, and SCCs may exhibit more aggressive behavior, with metastasis to lymph nodes and internal organs.[ 196, 199 ] Mutations in the WRN gene on chromosome 8p12-p11.2 have been identified in approximately 90% [renaldo.hassanflores.com]
Face, Head & Neck
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Hypomimia
There was no facial chorea; in fact, she had hypomimia. There was bilateral hearing loss. There were intermittent side-to-side and up-and-down head movements which were most likely titubation secondary to cerebellar dysfunction. [ncbi.nlm.nih.gov]
Neurologic
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Spastic Paralysis
paralysis Agammaglobulinemia, microcephaly, and severe dermatitis Renal hypouricemia Microcephaly sparse hair mental retardation seizures Dentinogenesis imperfecta type 2 Early-onset, autosomal dominant Alzheimer disease Microduplication Xp11.22-p11.23 [checkrare.com]
paralysis DSP dilated cardiomyopathy with woolly hair and keratoderma UBR1 johanson blizzard johanson blizzard syndrome LIPA lysosomal acid lipase deficiency LHCGR leydig cell hypoplasia SC5D lathosterolosis RECQL4 rapadilino rapadilino syndrome INSR [dokumen.tips]
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Dysmetria
In addition, there was moderate finger-to-nose dysmetria and bilateral upper extremity dysdiadochokinesis as well as involuntary movements likely due to a combination of ataxia and possible proprioceptive sensory loss (for online suppl. video 1, see www.karger.com [ncbi.nlm.nih.gov]
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Perseveration
She was very anxious and perseverated on statements such as being afraid of falling out of her wheelchair or requesting to go to the bathroom. [ncbi.nlm.nih.gov]
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Postural Instability
There was severe postural instability; hence, she was able to stand up only with assistance. Bilateral Achilles tendon shortening was present and contributed to difficulty in standing. [ncbi.nlm.nih.gov]
Workup
Urine
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Acanthocytes
Neuroacanthocytosis is a concern in the setting of mental retardation, possible peripheral neuropathy, and chorea, but a blood smear was negative for acanthocytes. [ncbi.nlm.nih.gov]
Treatment
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]
The role of dermabrasion and chemical peels in the treatment of patients with xeroderma pigmentosum. J Am Acad Dermatol. 1995;32:623-6. [ Links ] 6. [scielo.br]
Treatment : How to Treat "de sanctis-cacchione syndrome"? Treatment of De Sanctis-Cacchione syndrome includes medical care, consultations, medications & avoidance of some activities. [signssymptoms.org]
AF, which is rare in healthy children, is reported in XP patients.1,3,4,10 Genetic counseling is essential for the limitations to treatment and prognosis. [docksci.com]
Treatment Treatment of De Sanctis-Cacchione syndrome includes medical care, consultations, medications, and avoidance of some activities. [medigest.uk]
Prognosis
Prognosis is generally poor. TREATMENT Treatment for this disorder is symptom specific. Individuals with this condition require total protection from all forms of ultraviolet light. [secure.ssa.gov]
Prognosis - De Sanctis-Cacchione syndrome Not supplied. Treatment - De Sanctis-Cacchione syndrome Not supplied. Resources - De Sanctis-Cacchione syndrome Not supplied. [checkorphan.org]
AF, which is rare in healthy children, is reported in XP patients. 1, 3, 4, 10 Genetic counseling is essential for the limitations to treatment and prognosis. [scielo.br]
The prognosis of the disease is poor.5,6,7 Received on 03.06.2013. [docksci.com]
The prognosis for infants with this condition is generally poor and the disease typically progresses, resulting in complete physical and often mental disability. [disabilitybenefitscenter.org]
Etiology
Non-genetic etiologies are discussed, including medications, structural lesions, psychogenic causes, and metabolic abnormalities. This book describes in detail the latest clinical and etiological information regarding the causes of chorea. [books.google.de]
Epidemiology
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]
Moreover, NMSC is routinely excluded from the major cancer registries such as the Surveillance, Epidemiology, and End Results registry. [renaldo.hassanflores.com]
Pathophysiology
Psychopathology, management, and pathophysiology of chorea, are also addressed. [books.google.de]
Cleaver's seminal work in 1968 elucidated the pathophysiology of xeroderma pigmentosum by demonstrating defective DNA repair. [emedicine.medscape.com]
View Article : Google Scholar 7 Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A and Dollfus H: Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of [spandidos-publications.com]
Prevention
[…] neurological complications 4 pigmentosum neurological 4 sanctis-cacchione syndrome 4 complications sanctis-cacchione 4 xeroderma pigmentosum 4 syndrome 1 complications 1 neurological 1 xeroderma 1 sanctis-cacchione 1 Member Articles Primary Prophylaxis to Prevent [pubfacts.com]
Supportive treatment and prevention of further damage from UV light is the mainstay of treatment in XP and DCS. Conclusion: XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers. [figshare.com]
Prevention - De Sanctis-Cacchione syndrome Not supplied. [checkorphan.org]
Supportive treatment and prevention of further damage from UV light is the mainstay of treatment in XP and DCS. Conclusion XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers. [ncbi.nlm.nih.gov]