According to the WHO, a rare disease is a condition that affects a small number of the global population. In Europe, it is quantified at 1 in 2,000 inhabitants.
It is estimated that between 6 and 8% of the world’s population is affected by a rare disease, a figure that represents some 3 million Spaniards, 27 million Europeans, 25 million North Americans and 42 million in Latin America. Therefore, paradoxically, the group of rare diseases is very common.
Learn more about rare diseases, and more specifically about the well-known “butterfly skin”, from Dr. De Lucas Laguna, specialist in Dermatology and member of Top Doctors,
There are between 5,000 and 7,000 different rare diseases identified. Symptomatology in all of them is very variable, not only from disease to disease, but also within the same disease. In addition, they can affect different organs, the mind and even behavior.
Rare diseases are often not suspected, and the fact that they have different clinical manifestations in each person does not help in their diagnosis.
Characteristics of rare diseases
Most rare diseases share a number of characteristics. All of them are, for the most part, chronic and degenerative. In fact, 65% of these pathologies are severe and disabling, and are characterized by:
- Early onset in life (2 out of 3 appear before 2 years of age).
- Chronic pain (in 1 out of 5 patients).
- The development of motor, sensory or intellectual deficits in half of the cases, leading to a disability in autonomy (in 1 out of 3 cases).
- In almost half of the cases the vital prognosis is compromised. In fact, it can be attributed that 35% of deaths in children under one year of age, 10% between 1 and 5 years, and 12% between 5 and 15 years, are due to rare diseases.
Diagnosis of rare diseases
There are two main problems in the diagnosis of rare diseases:
- Lack of knowledge. There are a large number of cases, some of them with few affected families, so publications on rare diseases are scarce. These types of pathologies exist in all specialties. In dermatology, for example, diagnosis is very important. A spot, a vascular lesion, a “special” face, a rare hair or strategically distributed freckles can give clues to diagnose them.
- Treatment. Many of these rare diseases do not have a defined treatment, and if they do, it is sometimes impossible to find the necessary drug because commercial interests are far removed from medical ones. But we should not throw in the towel, in this globalized world there is always someone, in a remote corner or just around the corner, who can help in the diagnosis and treatment.
From my point of view, the physician must know how to accompany the patient and his family on this difficult journey.
Problems involved in rare diseases
The main problems faced by those suffering from a rare disease are:
- Delay in diagnosis. This can aggravate the disease, causing suffering for the patient and his family.
- Lack of expert professionals.
- Lack of reference centers.
- Lack of adequate treatments, or problems in obtaining them through the national health system.
- Social isolation, stigmatization, family problems, and everything derived from the social exclusion to which many patients and their families are subjected.
Most common rare diseases
Some dermatologists, including myself, see rare skin diseases every day, which sometimes give a sense of everyday life, since it seems normal to see this type of patient.
The dermatological diseases we see most frequently (within the so-called rare diseases) are neurofibromatosis type 1, tuberous sclerosis and neurofibromatosis type 2. Others, less frequent than those mentioned, are congenital disorders of keratinization, especially ichthyosis and palmoplantar keratoderma.
There are other pathologies that are associated with vascular malformations and other symptoms or complications that we should also be aware of, due to their prognostic implications. Some of them are Rendu-Osler disease, Macricephaly vascular malformation, RASA 1 syndromes, etc. In my case, I provide special care to patients with hereditary epidermolysis bullosa, known as butterfly skin.
Butterfly skin or hereditary epidermolysis bullosa is a group of rare diseases characterized by an extreme fragility of the skin, with blister formation at the slightest friction or trauma.
There are different forms of the disease, some milder and others so severe that the mere act of blinking, walking, touching a pencil or eating causes painful blisters to appear in the eyes, hands, feet, mouth and esophagus.
These blisters leave scars that can lead to loss of hand function, inability to walk, inability to eat by mouth, etc.
Patients with severe forms of epidermolysis sometimes do not survive the first few months of life, and/or must be completely bandaged and undergo prolonged and painful dressings that dramatically interfere with their quality of life.
Butterfly skin diagnosis and treatment
The diagnosis of butterfly skin is vital; identifying whether we are dealing with a mild or severe form is so important that the patient’s life often depends on it. To diagnose it, we perform a skin study and a genetic study that confirms the diagnosis and the type of inheritance.
Study of butterfly skin
Butterfly skin is so devastating that it has been the subject of studies in recent years. Treatments based on mesenchymal stem cell administration are underway, and possible applications of incipient gene therapy are being studied.
The creation of reference centers and the allocation of economic and human resources will be vital to put an end to this devastating pathology.