Active clinical trials for "Ichthyosis, Lamellar"

Presence/absence of subclinical keratoconus with corneal topographic abnormalities (skewed radial axes for forme fruste keratoconus, and inferior steepening for keratoconus suspect) on axial specular topography (TMS-4 Tomey), and elevation topographies: Pentacam (Oculus) and Orbscan (Bausch & Lomb).

The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. This registry is designed to identify people in the United States with the ichthyoses and other related disorders and to collect information about their skin ailment and how it has affected them. The database is available for review by approved research applicants. The registry is confidential and provides investigators a way to share information about studies and trials with potential participants while maintaining participants' privacy. Although the Registry is closed to new enrollment, it is still maintained in order to provide information related to understanding the diagnosis, pathophysiology, and treatment of ichthyoses. Support for studies continues and inquiries from investigators are welcomed.

This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.

The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause. In some cases, these may include problems affecting organs other than the skin, such as the eyes, teeth and bones. Patients with inherited skin disorders, including Darier's disease (keratosis follicularis), lamellar ichthyosis, epidermolysis bullosa, cystic acne, and others, and their relatives may be eligible for this study. Patients will have a medical history, physical examination with particular emphasis on the skin, and routine blood tests. Additional procedures for patients and unaffected relatives may include: Blood sample collection Dental exam with X-ray of the jaw Eye examination X-rays of the skull, ribs, chest, hands, feet, spine, arms, or legs Bone density scan Photographs of the skin Skin biopsies (removal of a small tissue sample under local anesthetic) Buccal sample (gentle brushing inside the cheek to collect a cell sample) for gene studies Patients who request the results of their gene testing will be provided this information.

The main purpose is to evaluate the feasibility (global use) of a therapeutic patient education program using a specific web application in patients with hereditary ichthyosis.