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]

Three months after photodynamic therapy, the patient presented with a dramatic increase in the extension of the tumors. [jhu.pure.elsevier.com]

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]

• 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]

• 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]

  […] defect coronary sinus Trisomy 3 mosaicism Syngnathia multiple anomalies VACTERL association Hepatic venoocclusive disease with immunodeficiency Ehlers-Danlos syndrome due to tenascin-X deficiency Typical congenital nemaline myopathy Split hand split foot [checkrare.com]

• Hearing Impairment

  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]

  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 [rarediseases.info.nih.gov]

  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]

• 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]

• Cerebellar Sign

  The neurologic symptoms probably start slowly when patients are about 2 years of age and become apparent with cognitive and cerebellar signs in 4-5 years (Anttinen et al., 2008). [ncbi.nlm.nih.gov]

• 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]

• 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]

• 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]

  […] paraplegia 11 ZFYVE26 15 spastic paraplegia 15 KIF1A 30 spastic paraplegia 30 FA2H 35 spastic paraplegia 35 GJC2 44 spastic paraplegia 44 C12ORF65 55 spastic paraplegia 55 CYP7B1 5a spastic paraplegia 5a SPG7 7 spastic paraplegia 7 ALDH18A1 9b spastic [dokumen.tips]

• Hyperreflexia

  He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. [hindawi.com]

• 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]

• Gliosis

  Our patient's cerebral MRI revealed parenchymal volume loss, cerebellar atrophy, and white matter gliosis, which are characteristic of the De Sanctis-Cacchione syndrome (DSC). [freethesaurus.com]

  Spine MRI revealed a normal spinal cord and cerebral MRI showed parenchymal volume loss, cerebellar atrophy, and white matter gliosis (Figure 2(c)). [hindawi.com]

Treatment Treatment of De Sanctis-Cacchione syndrome includes medical care, consultations, medications, and avoidance of some activities. [medigest.uk]

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]

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 for this disorder is symptom specific. Individuals with this condition require total protection from all forms of ultraviolet light. Examination by a dermatologist is recommended for evaluation of suspicious growths on the skin. [secure.ssa.gov]

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]

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]

Prognosis - De Sanctis-Cacchione syndrome Not supplied. Treatment - De Sanctis-Cacchione syndrome Not supplied. Resources - De Sanctis-Cacchione syndrome Not supplied. [checkorphan.org]

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]

Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders. 1. [hindawi.com]

Thus, identification of the patient's mutation and complementation group characterization plays an important role in genetic counseling, antenatal diagnosis, discussion of etiology, and the probability of occurrence in future generations (Uribe-Bojanini [atlasgeneticsoncology.org]

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]

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]

[…] 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]

Oral isotretinoin may prevent new neoplasms. [patient.info]