About Us
OUR AIMS
- Improving the health care and the social support of patients affected by severe genetic skin diseases.
- Improving genetic counseling.
- Promoting clinical research programs dedicated to evaluating and fulfilling the patient's needs.
- Fostering the development of a Euro-Mediterranean network of friendship and expertise
- Promoting dermatology as a critical specialty on the medical and social levels
- Facilitate access to DNA sequencing laboratories that allow more accurate diagnoses to be made.
Compassionate Healthcare
Many patients expect that the health care system should be able to provide DNA-based diagnosis, improved genetic counseling, and up-to-date information about the pathogenesis and treatment of genetic rare skin diseases. Our way of meeting these demands was to organize a special task force and to work on a national and international level to create networks of scientists, clinical experts, and patient organizations who are devoted to genodermatoses. Another important mission is to create a website where information about these diseases and diagnostic services is collected so that both the medical profession and interested patients can easily access the information.
A Team Approach
We are a team of health professionals from different parts of Libya trying to build a national registry for genodermatoses and providing help for patients with rare diseases. We also aim to raise awareness about genodermatoses and help establish patient support groups.
We will work with national and international experts for accurate molecular diagnosis, better genetic counseling, and, where appropriate, the feasibility of DNA-based prenatal diagnosis and gene therapy.
Finally, we will do our best to promote clinical research in the interest of patients, affected families, and society.
This site is dedicated to health professionals in Libya to register patients suffering from genodermatoses.
GENODERMATOSES
Our team of dermatologists provides expert care for patients with rare genetic skin diseases (genodermatoses). The genodermatoses represent a large group of inherited single-gene and chromosomal disorders with skin manifestations. Many of these disorders are rare. However, the recognition of their skin findings is important not only for the initiation of appropriate dermatologic therapy but also for the detection of other associated abnormalities in these frequently multisystem disorders.
Healthy Skin for a Happy Life
EPIDERMOLYSIS BULLOSA (EB)
Inherited EB is characterized by blisters developed in the skin and mucous membranes, either spontaneously or following minor friction or trauma, making the skin fragile, and scarring may complicate healing. They encompass four major types based on differences in the ultrastructural level within which skin cleavage occurs:
Epidermolytic EB simplex [EBS]), lucidolytic (junctional EB[JEB]), dermolytic (dystrophic EB [DEB]), and Kindler.
Immunofluorescence microscopy will hopefully be available in the Al Baida City Dermatology Department, free of charge, to be used as the primary laboratory means for diagnosing patients suspected of having inherited EB.
The management of wounds in EB patients has improved markedly in the last two years. Filsuvez gel is used in dystrophic EB and junctional EB to treat partial-thickness skin wounds, and in May 2023, the FDA approved the first topical gene therapy to treat wounds in patients with dystrophic EB.
Useful links: www.debra-international.org
DISORDERS OF KERATINIZATION
Keratins are proteins that form the cytoskeleton in all epithelial cells. The maturation of basal epidermal cells to the flattened cells that comprise the superficial stratum corneum is known as keratinization. Mutations of keratin genes in humans can lead to different phenotypes of genetic skin diseases depending upon the tissue-specific expression pattern of the affected keratin.
Ichthyosis is a diverse group of hereditary skin disorders characterized by the accumulation of "fish-like" scales resulting from abnormal epidermal cell kinetics or differentiation. The severity of the individual disorders ranges from asymptomatic to life-threatening. Ichthyosis vulgaris is the most common disorder of keratinization, estimated to affect about 1 in 250 people.
This link provides a nice article about management of different types of icthyosis
DISORDERS OF KERATINIZATION
Keratins are proteins that form the cytoskeleton in all epithelial cells. The maturation of basal epidermal cells to the flattened cells that comprise the superficial stratum corneum is known as keratinization. Mutations of keratin genes in humans can lead to different phenotypes of genetic skin diseases depending upon the tissue-specific expression pattern of the affected keratin.
Ichthyosis is a diverse group of hereditary skin disorders characterized by the accumulation of "fish-like" scales resulting from abnormal epidermal cell kinetics or differentiation. The severity of the individual disorders ranges from asymptomatic to life-threatening. Ichthyosis vulgaris is the most common disorder of keratinization, estimated to affect about 1 in 250 people.
This link provides a nice article about management of different types of icthyosis
PALMOPLANTAR KERATODERMAS
palmoplantar keratodermas (PPKs) include a variety of disorders characterized by hyperkeratosis of the palms and soles. The underlying gene defects for many types of hereditary PPKs have been defined in the past several years. many of these gene products are centrally involved in the formation of the cornified cell envelope and in the terminal differentiation of palmoplantar keratinocytes.
NEUROFIBROMATOSIS TYPE 1
Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant pattern and is characterized by multiple café-au lait macules, skinfold freckling, iris Lisch nodules, tumors of the nervous system, and other features. Disease manifestations can occur in any body system. There is a significantly increased risk of certain cancers, including female breast cancer. <50 years, malignant peripheral nerve sheath tumors (MPNSTs), and brain tumors.3>Among the challenges of diagnosing NF1 are that many of the features of the condition are age-dependent, and there is also wide variability in its presentation and expression. Also, some other conditions have features that overlap with NF1. A new diagnostic criterion for NF1 was developed in 2021 to reflect our expanded knowledge of the condition and to differentiate NF1 from Mosaic NF1 and Legius syndrome. (Revised diagnostic criteria for neurofibromatosis type 1 (NF1). (nature.com). Legius syndrome presents with multiple café-au-lait spots and skin fold freckles but not the tumor-related manifestations of NF1. It is due to pathogenic variants in the SPRED1 gene, which encodes a protein that interacts with the protein product of the NF1 gene. Diagnostic criteria for Legius syndrome: (nature.com).
XERODERMA PIGMENTOSUM
Xeroderma Pigmentosum (XP) is a rare, genetic, incurable condition characterized by extreme skin sensitivity to daylight. Affected individuals have a 10,000-fold increased risk of developing skin cancer before their 20th birthday compared with the general population. Some people with XP are also susceptible to severe sunburn, blistering, and hyper or hypopigmentation of exposed skin. Therefore, management of the condition requires strict lifelong photoprotection. This encompasses minimizing time spent outdoors during daylight, repeat sunscreen applications, and wearing protective clothing covering the entire skin surface, including Ultraviolet Radiation (UVR) protective glasses and full-face visors. About 30% of people with XP develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time.
ALBINISM
Albinism is a congenital disorder with an incidence of 1 in 20,000 persons worldwide. It is characterized by hypopigmentation of the eyes, skin, and hair. In the past, it was known that albinism is an autosomal recessive genetically heterogeneous disorder; however, since progress has been made in the genetics/genomics era, an autosomal dominant form of albinism has been reported. It has been classified according to clinical phenotype, and the two main categories are oculocutaneous albinism (OCA) and ocular albinism (OA). Ocular involvement is significant in the presentation of the disease, and ophthalmologists play an essential role in diagnosing this condition. Albinism can also be present as a syndromic condition, such as Hermansky-Pudlak syndrome (HPS) or Chediak-Higashi syndrome (CHS). HPS is characterized by a bleeding disorder, lung disease, renal failure, and colitis. CHS results in recurrent bacterial infections, easy bruising, and peripheral neuropathy. The morbidity of albinism is related to visual impairment, photosensitivity of the skin, and increased risk for cutaneous cancer. Those with syndromes related to albinism, such as HPS or CHS, may also experience hearing impairment.
Expert Dermatologists
On 29 February 2024, the Rare Skin Diseases Day, the 1st activity this year, was held in Zlitan City and hosted by the Department of Dermatology in Zlitan. Scientific sessions introduced and few patients suffering from genodermatoses were consulted. The support of Zlitan Hospital and the Faculty of Medicine is highly appreciated.
How We Help
HOW WE CAN HELP
- We offer clinical diagnostic consultations and referrals to other specialists when needed.
- We plan to organize genetic testing and counseling.
- We will do our best to provide needed care and medicines.
Insurance Issues
We can write medical reports to be used for legal, occupational, and social insurance.
Awareness
We can help in organizing awareness campaigns and training for health professionals and education for patients and their families.
IMPORTANT CONGRESSES IN 2024
The Second World Congress on Rare Skin Diseases
We are excited to announce that the Congress will be held in Paris, France, from June 12 to 14, 2024. We are pleased to inform you that our abstract has been accepted for the Paris Congress.
The objectives of the Congress are as follows:
- To provide education on the diagnosis, pathophysiology, and disease classification, as well as the management of rare and complex skin disorders such as skin cancers and aggressive tumors, autoimmune bullous diseases, complex vascular malformations and tumors, auto-inflammatory and autoimmune cutaneous disorders, toxiderma, ectodermal dysplasia and incontinentia pigmenti, DNA Repair Disorders & photosensitivity, monogenic fibrosing diseases, epidermolysis bullosa, and skin fragility, cornification disorders.
- To encourage a multidisciplinary approach and enhance skills required to manage common problems in rare and complex skin disorders.
- To provide up-to-date information on research findings and tools in the field of skin biology, genetics, and therapeutics.
- To educate attendees on patient engagement and empowerment, as well as patient education programs.
EB CONGRESS WILL BE HELD IN CAIRO FROM 25-28 APRIL 2024
Web site: Home | EB Congress 2024
The Congress will start on the 25th of April 2024 with a full-day session on genodermatoses aimed at including geneticists and dermatologists within the DEBRA community to raise awareness about incidence and updates on the management and research of orphan disorders, particularly EB, especially in the MENA region and Africa where consanguineous marriage is a still a tradition with an expected high incidence of these disorders.
The Scientific Committee is co-chaired by Professors Peter Marinkovich and Ghada El-Kamah, together with an eminent panel of expert dermatologists, geneticists, biologists, surgeons, and industrial representatives to discuss updates on research and appropriate therapy, minimization of adverse events, and strategies to improve patient quality of life.
Educational objectives:
- Review practice-changing data on the efficacy and safety of new and emerging therapies and determine which treatments are appropriate for which patients.
- Efficacy data from practice-changing clinical trials on new and emerging therapies.
- Outline adverse events associated with novel therapies and approaches to mitigate these effects.
- Patient advocacy is able to discuss their needs and whether they are fulfilled through novel approaches.
Ultimately, the meeting aims to establish a network that bridges gaps in patient advocacy and technology transfer to the MENA region and Africa.