PMC3638301_01
Clinical features of the affected individual with XPV. (A) Pedigree of the reported family with XPV. An asterisk indicated that a blood sample was available. An arrow indicated the proband. (B-E) Clinical presentations of the affect individual with XPV phenotype showed diffuse cutaneous pigmentation and atrophy on the face and scattered small darken freckles on the nose, zygoma, neck and forearms. (F-H) Histological examination of a skin biopsy of facial lesion showed hyperkeratosis, focal parakeratosis, and atypic keratinocytes. Epidermal ridges elongated as bud-like and extended into the dermis.
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F1
However, it was noted that he was born to consanguineous healthy parents and his parents were first cousins (Fig. 1A).