Characterization of recessively inherited X-Linked ichthyosis in Bajaur Agency

Abstract

Background: Recessively inherited X-linked Ichthyosis (XLI) is the second most generic form of Ichthyosis and is characterized by scaly, dry, thickened, and mild erupted skin. It is caused by a mutation in the STS gene ensuing lower production of Steroid sulfatase. A current study was performed to characterize XLI and its complications in patients of Bajaur Agency, Pakistan. We also wanted to record critical factors affecting the progression of XLI. Methods: An Ichthyosis examination questionnaire was prepared and detailed information about the symptoms and management was recorded from 51 affected male patients of 17 families. Personal data such as age and gender were also recorded. Results: Our results indicate that 53% of the patients were collodion while other symptoms appeared in the first month after birth. Almost every part of the patient has symptoms of the disease; scales were found on the extensor and flexor muscles (98%) of limbs followed by the ears (82.53%). All the patients had normal nails, palms and soles. Conclusion: The age of the patients seems to have a significant effect on the color of the scales changing from white to brown to blackish. The disease progresses with the age and worsens in cold, dry seasons. The pedigrees of all families show that disease passes from generation to generation according to the classical X-linked recessive inheritance. We recommend early diagnosis and treatment for effective management of the condition. Further work is required to elucidate the genetic, biochemical, and environmental factors involved in the disease.