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Figure 1 | Journal of Biomedical Science

Figure 1

From: In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum

Figure 1

A two generation Pakistani family suffering from severe manifestations of xeroderma pigmentosum complementation group A. Patients ages ranging from 2–5 years (A) patient IV:1 in pedigree; pigmentary macules of varying sizes, atrophy, dryness, scaring, cheilitis, ulcer on nose (may possibly BCC), ulcer on lips & below left eye covered with scab & hyperkeratosis (B) patient IV:2 in pedigree; marked atrophy with hypo-pigmentation, dry skin pigmentary macules, ulcer with thread like irregular margin on nose with possible risk to develop BCC (C) patient IV:3 in pedigree; pigmentary macules, hypo-pigmentation, atrophy, dryness, ulcer above upper lips, ulcer and pigmentary changes with atrophy on right ear as well. (D, E) patient IV:2 in pedigree; Ulcer with irregular margin with peripheral atrophy and pigmentary changes may possibly be SCC.

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Journal of Biomedical Science

ISSN: 1423-0127