Combination of Clinical Features of Xeroderma Pigmentosa, De Sanctis–Cacchione Syndrome and Cockayne II Syndrome
Keywords:
Xeroderma pigmentosa, Di Sanctis-Cacchione, Cockayne II syndrome, West syndromeAbstract
Introduction: Xeroderma pigmentosa and Cockayne syndrome as a form of presentation is a rare and multisystemic autosomal recessive disease. It is progressive in nature, with a severe and variable prognosis, caused by a defect in DNA repair by nucleotide excision.
Objective: To report a clinical case in which clinical manifestations of xeroderma pigmentosa, De Sanctis–Cacchione syndrome and Cockayne II syndrome are combined.
Case report: A 6-month-old male infant is reported, with personal history of high-risk pregnancy, delayed intrauterine growth and family history of parents and paternal sister with felids and actinic skin. His family was from a rural area. Since birth he had "failure to thrive" and at 23 days he began to have skin lesions due to photosensitivity. He presented with clinical and pathological characteristics in skin, eyes, neurological and other systems confirming the clinical diagnosis of Xeroderma pigmentosa De Sanctis-Cacchione and in the form of presentation of Cockayne II. At 5 months he had West syndrome with poor therapeutic response and he died at 7 months due to pneumonia and sepsis.
Conclusions: Xeroderma pigmentosa and its presentation, Cockayne II Syndrome, are rare and infrequent genetic diseases, as all the most serious clinical variants are combined in the same patient. They are pathognomonic clinical manifestations in the skin, eyes, and neurological disorders that are progressive in association with symptoms and signs in other systems or organs. The prognosis and clinical evolution depend on the phenotypic severity and the failure in DNA repair, related to the serious effect on the skin and other tissues due to exposure and photosensitivity to ultraviolet rays.Downloads
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