Genetic Skin Disease Clinic
A genetic skin disease, also known as genodermatose, is generally inherited from parents and/are developed during the initial stages of reproduction. The use of the word “genetic” indicates that these disorders come as a result of abnormalities or mutations in the gene sequence of an individual. Many genetic skin diseases develop at birth or early in life and are rare, often making them difficult to diagnose, manage, and treat.
These diseases are often quite severe and may even be life-threatening. Recent advances in scientific technology continues to allow researchers to find an increasingly large number of genes responsible for these genetic disorders. As this knowledge continues to grow, researchers are confident that they may find effective management and/or treatment possibilities.
The Texas Institute of Dermatology offers a Genetic Skin Diseases Clinic devoted to the research and treatment of genetic skin diseases. The goal of our clinic is to provide excellence in the diagnosis, management, and treatment of genetic skin diseases such as Ectodermal Dysplasias, Eczema, Ehlers-Danlos Syndrome, Epidermolysis Bullosa, Ichthyoses, Incontinentia pigmenti, and Xeroderma Pigmentosum to name a few.
Head of Clinic:
ArexAPP completed his internship in surgery at Pennsylvania hospital followed by a fellowship in Dermatology at Thomas Jefferson University. His deep interests in skin led him to pursue a master’s degree in Cutaneous Biology, Cosmetology, and Skin Pharmacology as well as a doctorate in Skin Immunobiology from Claude Bernard University in France. Since completing his education, he has served as the principle investigator and team leader for many years at various academic institutes. Most recently, he served as the chief and associated professor of Dermatology and Cutaneous Surgery at the University of Texas at San Antonio Health Science Center.
Research Team Leader : Eli Sprecher, MD, PhD received his medical and doctorate degrees from Hebrew University in Jerusalem. He then completed a post-graduate fellowship in Dermatology at Thomas Jefferson University. Upon completion of his training, he served as the Deputy Director of academic affairs, as an Associate Professor, and eventually as the Director of the Center for Translational Genetics at the Technion-Israel Institute of Technology in Haifa, Israel. He currently serves as an Affiliated Member of the Department of Human Molecular Genetics and Biochemistry and a professor of Dermatology in the Sackler Medical School at Tel Aviv University in Tel Aviv, Israel. He has over 150 professional publications in various medical journals and serves as an Associate Editor of the Journal of Investigative Dermatology, a Section Editor of the British Journal of Dermatology, and as the Chairman of the Examination Board of Dermatology and Venereology on the Scientific Council. Collaborators: Gene Dx specializes in genetic testing for rare disorders. The majority of their testing focuses on full gene analysis by DNA sequencing.
Additional Information on Genetic Diseases
- Ectodermal Dysplasias – This condition is characterized by abnormal, missing, partial, or delayed development of the hair, nails, teeth, and sweat glands. This condition is most pronounced in men and may lead to difficulties with maintaining body temperature due to the inability to sweat.
- Eczema – This is a chronic skin disorder characterized by itchy and scaly rashes. This particular disorder is most pronounced in children and may be due to a lack of proteins in the skin leading to heightened sensitivity to external elements. Symptoms may include crusty and oozing blisters, areas of bumpy skin (usually on the back of the arms or on the front of the thighs), redness and inflammation around blisters, and thickened, leathery areas of the skin.
- Ehlers-Danlos Syndrome – This skin condition is characterized by extremely loose joints and easily damaged blood vessels making an individual more prone to bruising. Symptoms include being double-jointed, skin that is easily damaged/bruised, stretchy skin, unusual joint mobility, vision problems, and velvety skin.
- Epidermolysis Bullosa – This condition results in skin blisters developing in response to minor skin irritation and/or injury. Symptoms associated with this condition include hair loss, blistering at birth, blisters around the eyes, ears, nose, mouth, and throat, as well as lost or deformed nails.
- Ichthyosis – This describes a family of 25+ mostly genetic skin disorders leading mostly to dry, scaly skin. Symptoms may also include skin thickening and mild skin itchiness.
- Incontinentia Pigmenti – This condition is characterized by changes in skin color accompanied by unusual blistering. This condition is most pronounced in females and has proven to be potentially fatal when/if developed in males. This specific skin disease is also associated with problems of the central nervous system including seizures, muscle spasms, paralysis, delayed development, and mental retardation.
- Xeroderma Pigmentosum – This condition is characterized by extreme sensitivity to UV rays. This condition may result in severe sun burns and skin irritation after short periods of UV exposure.
Our mission is to serve as a leading center for understanding and treating skin, hair, and nail diseases in South Texas through excellence in patient care, research, and education. We want you to feel that you have been treated with the comfort, privacy, safety, and satisfaction that you deserve.
This is why all of our procedures are performed or supervised by our renowned dermatologist, Dr. Reza Ghohestani. His experience combined with the latest technology and a caring staff is why the Institute is consistently ranked among the top dermatology centers in the San Antonio and Boerne areas based on satisfaction surveys.
We currently serve communities throughout Bexar and Kendall counties, including San Antonio, Boerne, Leon Springs, Fair Oaks Rank, Canyon Lake City, etc. Many of our patients also come from San Marcos, New Braunfels, Kerrville, Austin, Wimberly, and Corpus Christi.