Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 1

                       


(per page)
PMID (PMCID)
24474111
(3900353)
 FEMALE Infant
De Sanctis-Cacchione syndrome in a female infant--case report.
Caldas AL, Rodrigues MM.
An Bras Dermatol. 2013;88(6):979-81.
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.