13 results match your criteria complications sanctis-cacchione

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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

[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

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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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
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