Ged et al. (2004) described a novel mutation of the uroporphyrinogen III synthase (UROS) gene responsible for severe cutaneous lesions and UROS enzymatic deficiency in a large kindred. The members of the kindred were belonging to the Palestinian Muslim community. The parents were non consanguineous, but originated from the same village. Two male and two female sibs showed the symptoms of congenital erythropoietic protoporphyria (CEP) during infancy. The symptoms included photosensitivity lesions and blisters appeared in sun-exposed areas, and after minor traumas leading to severe deformities of the nasal and auricular cartilage, and/or the distal phalanges. Also, dyspigmentation and hirsutism, poor dentition, reddish-brown teeth, mild splenomegaly, and hemolytic anemia were detected in those patients. Another brother was severely affected and showed massive multilations and deformities due to bone resorption on his hands. Of these five affected sibs, four of them were analyzed revealing massive uroporphyrinuria, barely detectable activity of the enzyme UROS, and homozygosity for a new mutation of the UROS gene (substitution of serine by praline at position 47, S47P).

Al Hammouri (1989)  described two male Yemeni siblings (6-year and 3.5-year old) with congenital erythropoietic porphyria. Both had, in addition to all the features of the condition, an undescended right testis.

[Kuwait Med J. 1989; 23(1):74-6]