Xeroderma pigmentosum group A

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Description from OMIM

Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (278800) (Satokata et al., 1992). See also XPB (610651), XPC (278720), XPD (278730), XPE (278740), XPF (278760), XPG (278780), and variant XP (XPV; 278750).

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Sun sensitivity integumentary 100 % 18567921 2013-04-02
Dysarthria nervous 100 % 18567921 2013-04-02
Ataxia nervous 100 % 18567921 2013-04-02
Cerebral atrophy nervous 100 % 18567921 2013-04-02
Cerebellar atrophy nervous 100 % 18567921 2013-04-02
Neuropathy nervous 89 % 18567921 2013-04-02
Short stature skeletal 89 % 18567921 2013-04-02
Microcephaly nervous 89 % 18567921 2013-04-02
Developmental delay nervous 89 % 18567921 2013-04-02
Hearing loss nervous 89 % 18567921 2013-04-02
Mental retardation nervous 89 % 18567921 2013-04-02
Pyramidal signs nervous 73 % 18567921 2013-11-14
Basal ganglia pathology nervous 55 % 18567921 2013-11-14
Cancer integumentary 50 % 18567921 2013-04-02
Chorea nervous 44 % 18567921 2013-04-02

List of references:

Neurological symptoms and natural course of xeroderma pigmentosum.
Anu Anttinen, Leena Koulu, Eeva Nikoskelainen, Raija Portin, Timo Kurki, Matti Erkinjuntti, Nicolaas G J Jaspers, Anja Raams, Michael H L Green, Alan R Lehmann, Jonathan F Wing, Colin F Arlett, Reijo J Marttila,

We have prospectively followed 16 Finnish xeroderma pigmentosum (XP) patients for up to 23 years. Seven patients were assigned by complementation analysis to the group XP-A, two patients to the XP-C group and one patient to the XP-G group. Six of the seven XP-A patients had the identical mutation (Arg228Ter) and the seventh patient had a different mutation (G283A). Further patients were assigned to complementation groups on the basis of their consanguinity to an XP patient with a known complementation group. The first sign of the disease in all the cases was severe sunburn with minimal sun exposure in early infancy. However, at the time the diagnosis was made in only two cases. The XP-A patients developed neurological and cognitive dysfunction in childhood. The neurological disease advanced in an orderly fashion through its successive stages, finally affecting the whole nervous system and leading to death before the age of 40 years. Dermatological and ocular damage of the XP-A patients tended to be limited. The two XP-C patients were neurologically and cognitively intact despite mild brain atrophy as seen by neuroimaging. The XP-G patients had sensorineural hearing loss, laryngeal dystonia and peripheral neuropathy. The XP-C patients had severe skin and ocular malignancies that first presented at pre-school age. They also showed immunosuppression in cell-mediated immunity. Neurological disease appears to be associated with the complementation group and the failure of fibroblasts to recover RNA synthesis following UV irradiation, but not necessarily to the severity of the dermatological symptoms, the hypersensitivity of fibroblasts to UVB killing or the susceptibility of keratinocytes to UVB-induced apoptosis.

Brain : a journal of neurology - Aug 2008