(A) Pedigree of the 5-generation consanguineous Pakistani family, showing features of X-linked recessive Congenital Erythropoietic Porphyria. Consanguineous unions are shown through double lines. Males and females are represented using squares and circles respectively. The affected and unaffected family members are shown using filled and clear symbols respectively, while a deceased individual is represented through a diagonal line. (B) Urine under wood lamp test. (C) Teeth colour under wood lamp test. (D-H) the clinical appearance of the affected persons (D) Eryhtrodondia, (E) Hypertrichosis, (F) Blisters formation on skin exposed to sunlight, (G) Blister healing with scarring, (H) Hands mutilating deformities of fingers with no finger prints.