49 results match your criteria sanctis-cacchione

Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.

J Pak Med Assoc 2018 Oct;68(10):1531-1534

Dow Medical College, Dow University of Health Sciences, Karachi.

We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome. She had a swelling above the upper lip and multiple brown spots on her face, neck, arms and back. She was globally delayed, deaf, dumb and photophobic. Read More

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October 2018

Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.

Case Rep Med 2017 1;2017:7162737. Epub 2017 Feb 1.

Unidad de Genetica Médica, Facultad de Medicina, Universidad de Antioquia, Carrera 51D 62-29, Medellín, Colombia.

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Read More

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February 2017

Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana.

E V Badoe

eNeurologicalSci 2016 Jun 22;3:33-34. Epub 2016 Jan 22.

Department of Child Health, School of Medicine and Dentistry, University of Ghana, Ghana.

Introduction: Marriage between close biological kin is not regarded as advantageous in the western world but in other parts of the world, consanguineous unions persist. Consanguineous marriage increases the birth prevalence of individuals with recessive disorders. In Accra, Ghana, consanguinity is beginning to emerge as a significant cause of rare neurological disease at the central referral hospital at Korle Bu in Ghana. Read More

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De Sanctis-Cacchione syndrome: A case report and literature review.

Int J Womens Dermatol 2015 Aug 20;1(3):136-139. Epub 2015 Aug 20.

Department of Otorhinolaryngology-Head and Neck Surgery, Tehran University of Medical Sciences, Amiralam Hospital, Tehran, Iran.

De Sanctis-Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe inability to repair damaged DNA. Herein, we will present the case of a 9-year-old boy who had DSC syndrome with microcephaly, severe psychomotor retardation, ataxia, and hearing loss. Read More

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Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.

Robert Fekete

Case Rep Neurol 2014 Jan 22;6(1):83-7. Epub 2014 Mar 22.

Department of Neurology, New York Medical College, Valhalla, N.Y., USA.

Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS). Read More

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January 2014

De Sanctis-Cacchione syndrome in a female infant--case report.

An Bras Dermatol 2013 Nov-Dec;88(6):979-81

Federal University of Pernambuco, MD, PhD in Tropical Medicine from the Federal University of Pernambuco (Universidade Federal de Pernambuco - UFPE). Dermatologist - Hospital Cancer Pernambuco (HCP). Researcher of the Institute of Medicine Professor Fernando Figueira - EP ( IMIP ) . Preceptor of the Dermatology Service of the Hospital Otavio de Freitas - HOF.

The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported. Read More

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September 2014

De Sanctis-Cacchione syndrome.

Indian J Dermatol Venereol Leprol 2013 Nov-Dec;79(6):849

Department of Pediatrics, Lok Nayak Hospital, New Delhi, India.

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Do you know this syndrome? Xeroderma pigmentosum (XP).

An Bras Dermatol 2011 Sep-Oct;86(5):1029

Dermatology Department, Universidade Federal do Pará, Belém, PA, Brasil.

Xeroderma pigmentosum is a rare genetic disease characterized by clinical and cellular hypersensitivity to ultraviolet radiation and DNA repair defects. Patients with xeroderma pigmentosum experience sun-induced cutaneous and ocular abnormalities, including cancer. Some develop neurological disorders. Read More

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October 2012

[De Sanctis-Cacchione syndrome].

Actas Dermosifiliogr 2005 Nov;96(9):586-8

Servicio de Dermatología, Hospital Provincial, Complejo Hospitalario de Pontevedra, Spain.

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. Read More

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November 2005

De sanctis cacchione syndrome.

N Riyaz A Riyaz

Indian J Dermatol Venereol Leprol 1999 May-Jun;65(3):145-6

Departments of Dermatolgy and Pediatrics, Medical College Hospital Calicut-673 008, India.

A case of de Sanctis Cacchine syndrome in a female infant is presented. Read More

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October 2012

[Neurocutaneous syndromes with vascular alterations].

Rev Neurol 1997 Sep;25 Suppl 3:S250-8

Departamento de Dermatología, Clínica Universitaria de Navarra, Pamplona, España.

There are several syndromes in which neurological and cutaneous alterations of vascular origin, among other symptoms, occur. The key point of this fact is that these cutaneous signs permit early diagnosis, thus helping in further recognition of more complex syndromes and preventing unnecessary, harmful and costly diagnostic procedures or having to wait until the appearance of neurological signs. Therefore, these diseases should be classified attending to the most notorious vascular lesions they show, though they may show other less frequent cutaneous vascular lesions. Read More

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September 1997

[An unusual course of hereditary photodermatosis: De-Sanctis-Caccione syndrome?].

A Hort G Kurlemann

Monatsschr Kinderheilkd 1993 Feb;141(2):107-9

Bereich Neuropädiatrie, Universitäts-Kinderklinik Münster.

We report about an unusual development of a hereditary photodermatosis in an almost 11-year-old girl. At the age of 11 months the first symptom was a profuse solar inflammation of the skin. By the beginning of the third year neurological symptoms appeared with an ataxic gait, dysarthria, areflexia, asynchronism and bilateral pes cavus. Read More

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February 1993

De Sanctis Cacchione syndrome.

Indian Pediatr 1993 Jan;30(1):88-9

Department of Pediatrics, St. John's Medical College Hospital, Bangalore.

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January 1993

Three nonsense mutations responsible for group A xeroderma pigmentosum.

Mutat Res 1992 Mar;273(2):193-202

Institute for Molecular and Cellular Biology, Osaka University, Japan.

The molecular basis of xeroderma pigmentosum (XP) group A was studied and 3 nonsense mutations of the XP-A complementing gene (XPAC) were identified. One was a nucleotide transition altering the Arg-228 codon (CGA) to a nonsense codon (TGA). This transition creates a new cleavage site for the restriction endonuclease HphI. Read More

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De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders.

Hautarzt 1992 Jan;43(1):25-7

Dermatologische Klinik, Ruhr-Universität im St. Josef-Hospital Bochum.

A 6 year-old boy with de Sanctis-Cacchione syndrome is reported. This syndrome is characterized by the triad xeroderma pigmentosum (XP), mental deficiency and neurological disturbances. The patient's cells were assigned to genetic complementation group A by use of the cell fusion technique. Read More

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January 1992

Epibulbar squamous cell carcinomas in brothers with Xeroderma pigmentosa.

J Pediatr Ophthalmol Strabismus 1991 Nov-Dec;28(6):350-3

Department of Ophthalmology, Children's Hospital of Philadelphia, Pa 19104-4399.

We report two brothers aged 6.6 and 5 years old with the De Sanctis-Cacchione variant of Xeroderma Pigmentosa. They had typically severe skin, and ocular and neurologic involvement. Read More

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February 1992

Peripheral neuropathy in xeroderma pigmentosum.

Brain 1990 Aug;113 ( Pt 4):1025-44

Department of Neurology, Tokyo Medical and Dental University, Japan.

The pathology of the peripheral nervous system (PNS) in 2 autopsied cases of group A xeroderma pigmentosum (De Sanctis Cacchione syndrome) are presented. Motor nerves including those of the oculomotor systems were severely affected, but involvement of the sensory system was even more marked. Minor hypertrophic changes were present in the distal portions of the peripheral nerve trunks, but there was no appreciable difference in the density of myelinated nerve fibres between proximal and distal levels. Read More

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[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome].

Rinsho Shinkeigaku 1989 Apr;29(4):497-9

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. Read More

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[De Sanctis-Cacchione syndrome. Apropos of 2 cases].

Med Cutan Ibero Lat Am 1986 ;14(4):219-22

We report two cases of xeroderma pigmentosum (XP), with neurologic alterations, representing a partial, although not complete form of the syndrome of De Sanctis-Cacchione. The clinical and aetiological features of the condition are discussed. Read More

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January 1987

Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan.

Arch Dermatol Res 1985 ;277(1):1-7

Twenty-six patients with xeroderma pigmentosum (XP), who live in the Northeast (Tohoku) District of Japan, were examined for the clinical characteristics of UV-induced DNA synthesis (unscheduled DNA synthesis, UDS) and UV sensitivity of skin fibroblasts or lymphoblastoid cells, or both. A history of consanguineous marriage within two generations was found in 19 of 26 cases (73%). Two pairs of siblings showed similar manifestations and almost the same levels of UDS and of UV sensitivity. Read More

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Gamma-ray-enhanced reactivation of irradiated adenovirus in Xeroderma pigmentosum and Cockayne syndrome fibroblasts.

Radiat Res 1983 Jun;94(3):480-98

A gamma-ray-enhanced reactivation (gamma RER) of uv-irradiated as well as of gamma-irradiated human adenovirus type 2 (Ad 2) was detected following infection of normal, Xeroderma pigmentosum (XP), and Cockayne syndrome (CS) fibroblasts that had been preirradiated with gamma rays. Gamma-irradiated or nonirradiated fibroblasts were infected with either nonirradiated or irradiated Ad 2, and 48 hr after infection cells were examined for the presence of viral structural antigens (Vag) using immunofluorescent staining. Results obtained using seven different normal fibroblast strains showed that irradiation of host monolayers with 1 krad immediately prior to infection resulted in a gamma RER factor +/- SE of 4. Read More

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Differential features of sister-chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines.

H Tohda A Oikawa

Mutat Res 1983 Feb;107(2):387-96

Sister-chromatid exchange (SCE) induced by ultraviolet (UV) irradiation and viability after UV irradiation were studied in lymphoblastoid cell lines derived from 7 patients with xeroderma pigmentosum (XP) and 6 normal donors. UV irradiation caused significant increases of SCEs in both XP and normal cells. In 3 XP cell lines, which were deficient in unscheduled DNA synthesis (UDS) and sensitive to the killing effect of UV, very high SCE frequencies were observed after UV irradiation. Read More

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February 1983

De-Sanctis cacchione syndrome.

P C Mishra R Singh

Indian J Pediatr 1982 Nov-Dec;49(401):891-3

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The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies.

Acta Neuropathol 1982 ;56(3):194-200

Histological, ultrastructural, and morphometric studies were performed on nerve and muscle biopsies from three patients with de Sanctis-Cacchione syndrome. Sural nerves showed marked loss of the myelinated fibers, in proportion to decrease in nerve conduction velocities and in inverse proportion to the severity of the clinical symptoms, which were related to the survival length. The larger fibers were involved earlier and more markedly than the smaller. Read More

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Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione Syndrome.

N Okada Y Kitano

Arch Dermatol Res 1981 ;271(3):341-6

The normal senescent fibroblasts in culture accumulate a significantly high proportion of altered enzymes, and the alterations are considered to be the manifestation of ageing in molecular terms. To detect the possible molecular alterations in patients with De Sanctis-Cacchione syndrome, the severest form of xeroderma pigmentosum, in which repair processes to UV light-damaged DNA are defective and the neurologic abnormalities are considered to reflect accelerated ageing, we studied the heat stability of glucose-6-phosphate dehydrogenase (G6PD) in crude extracts of cultured skin fibroblasts. Three patients with the syndrome were the center of our investigation. Read More

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January 1982

Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus.

Clin Genet 1980 Jan;17(1):39-45

A patient is described who has a unique combination of symptoms that correspond with two sun-sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematosus (SLE). Both of these conditions have been suggested as being associated with a defect in DNA repair, but this is only clearly established for XP. The patient described is the only known case among U. Read More

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January 1980

Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome).

J Comput Assist Tomogr 1978 Sep;2(4):456-9

Computed tomography (CT) scans in two young patients with xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome) showed ventricular dilatation and cerebral cortical atrophy. The brainstem appeared small. In addition, an abnormal thickening of the calvarial bones was noted in both patients. Read More

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September 1978