Article thumbnail

PHOTOGRAPHY AND CATALOGUE OF CUTANEOUS VASCULAR MALFORMATIONS OF PATIENTS WITH CCM1- CHM CEREBRAL CAVERNOUS MALFORMATIONS

By Athanasios K Manole

Abstract

Due to a genetic mutation, a rare and potentially fatal disease has spread throughout New Mexico. This disease, Familial Cerebral Cavernous Malformation (FCCM1-CHM), is due to a mutation that affects peoples of Hispanic heritage in New Mexico. The FCCM disease is characterized by the development of dilated, thin walled, leaky vessels that occur in the brain and spinal cord. As a result of this genetic mutation, the lesions in the blood vessels of the brain and spinal cord are highly susceptible to hemorrhaging into surrounding tissue. This can lead to headaches, seizure, and possibly death. Researchers at the University of New Mexico have identified skin lesions in the FCCM positive population (Zlotoff et al., 2007). The relationship between these skins lesions and the FCCM genetic mutation has not been thoroughly established. If these skin lesions can be characterized they may serve as a non-invasive screening tool that can be developed to diagnose and monitor this insidious disease. The long-term goal of this research project will be to develop a tool to aid community physicians in the early diagnosis and management of this life threatening disease. The overall objective of the study is to describe the relationship between cutaneous vascular lesions and central nervous system lesions. The central hypothesis proposed by the study is that the number of skin lesions of varying CCM characteristic morphology is positively correlated with the number of brain lesions. We plan to test this hypothesis by utilizing a cross sectional study of FCCM positive patients in New Mexico. The rationale for this study is that if we can prove an association of a skin marker with this deadly disease, then this association may present an opportunity for an easier and earlier diagnosis of the disease. The central hypothesis of the study is tested with two specific aims that are descriptive and exploratory in nature. 1) To develop a database of photographs of skin lesions in FCCM positive subjects. Previous research on a related population of FCCM skin lesions has determined that lesions of three different types exist: hyperkeratotic cutaneous capillary-venous malformations (HCCVM), capillary stains, or deep blue nodules (Sirvente et al., 2009). This research will identify the different qualities of the cutaneous lesions to attempt to identify the types of lesions associated with the FCCM1-CHM disease. 2) To determine a relationship between skin lesions and brain lesions. It is critical that we determine a relationship between the skin lesions and the potentially fatal brain lesions. The working hypothesis is that the quantity of skin lesions positively correlates with the number of brain lesions. If an association can be established between this disease and skin lesions, a simple skin exam may serve as a complementary, innovative approach to diagnosing and monitoring this disease. The significance of this study is that we aim to identify a novel clinical finding, i.e. skin lesions, that may be associated with the potentially fatal FCCM disease in the New Mexican population

Topics: CCM, Cavernous Angioma, FCCM, Cerebral Cavernous Malformations, Medicine and Health Sciences
Publisher: UNM Digital Repository
Year: 2017
OAI identifier: oai:digitalrepository.unm.edu:biom_etds-1181

Suggested articles


To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.