Development of Epidermolysis Bullosa - Research Paper Example

? Epidermolysis bullosa Epidermolysis bullosa Part One Epidermolysis bullosa (EB) is an inherited disorder of the epithelial layer orsurface tissue of the skin which leads to recurrent blisters and erosions in the affected individual. Even a minor case of injury or strain will lead to damage of the cell structure and tissues. It involves around 30 different types of phenotypic and genotypic variants which come under the same category. The ratio of occurrence in both males and females is equal (Keefe 2008; Fine 2010). The historical perspective and development of epidermolysis bullosa through the years as well as the symptoms and signs associated with the disease will be assessed. The earliest evidence of bullous skin disorders of genetic type are found to be mentioned by Hebra, Fox and Goldsheider (Lin & Carter 1992). Koebner was the first person who coined the term epidermolysis bullosa hereditaria in 1886. He used the term to describe and elaborate a set of family generations that have been showing the skin blistering and erosions for many years. The term hereditaria described its hereditary origin, bullosa for the blistering manifestation and epidermolysis for the lysis of the epidermis layer of skin. Hallopeau was the second person who analyzed two different forms of the disease; epidermolysis bullosa simplex (EBS) and dystrophic epidermolysis bullosa (DEB). He described that the simplex form was caused by the blistering lesions only in the epithelial layer of the skin and they do not leave a scar mark. The dystrophic variant occurred in the sub-epithelial layer of the skin and was scarring in nature (Keefe 2008). Until 1935, they were thought to be the only two types of EB. However, in 1935 Herlitz put forward another variant which was more severe in its manifestations and had poor prognosis. This variant was termed as EB letalis. Junctional EB (JEB) was another name given to this type and is more commonly used. The rationale for using this term was that it affected the junction between the cell membrane and the basement membrane. In the 20th century proper classification was put forward on the basis of clinical manifestations of every type. In 1991, the molecular genetics of the EBS were found to be caused by the mutations in the keratin 5 and keratin 14 genes. Electron microscopy advancements made it possible to describe the JEB, DBS and EBS at an ultra structural level and understand the histopathology of the disease (Keefe 2008). Currently four major types of EB have been established; EB simplex, junctional EB, dystrophic EB and Kindler syndrome. EB simplex is described by its intra-epidermal erosions and blisters. Two further sub-types of EBS include localizes EBS and generalized EBS. An important type of generalized EBS is EBS-Dowling Meara which leads to death in the infant years of life. Other types include EBS with mottles pigmentation, EBS with muscular dystrophy, EBS-Ogna and autosomal recessive EBS. The junctional EB and dystrophic EB are characterized by erosions and lesions in the lamina lucida and sub-lamina densa, respectively. A severe form of JEB is termed as JEB-Herlitz and involves all the skin surfaces of body. Inverse JEB, non-Herlitz JEB, LOC syndrome and JEB with pyloric atresia are some other clinical sub-types of JEB. Two major sub-types of DEB arete dominant and recessive dystrophic EB. JEB of all the sub-types has the poorest prognosis and leads to death during the early years of life. DEB and EBS patients have a comparatively good prognosis and have a normal life expectancy (Fine 2010). EB dystrophica is one of the most severe forms of the EB four types. The alternate names used for this condition are dermolytic EB and dystrophic EB. The individuals suffering from this type have very delicate skin and it can tear off as a result of even mild trauma or friction. They present with blisters and erosions which associated with intense pain and generalized pruritis. The erosions are mostly scarring and heal with an atrophic scar. Nails are also affected and are brittle and dystrophic. Moreover, the scalp presents with hair loss. All forms of DEB present with some types of lesions at sites other than cutaneous sites like oral cavity, tongue and esophagus. However, the recessive phenotype has more extra-cutaneous manifestations as compared to the dominant type. The recessive DEB patients’ hand and feet present with deformities termed as pseudosyndactyly. Severely affected children also have growth abnormalities and anemia (National Organization for Rare Disorders 2003). Junctional epidermolysis bullosa also used alternatively with the terms EB atrophicans, EB letalis and generalized atrophic benign EB, is another type with severe clinical presentation. The patients manifest with blisters associated with pain, dystrophic nails, pigmentary alterations after wound healing and alopecia. Granulation tissue accumulation is also visible around mouth, eyelids and nasal openings, lateral side of the neck, upper region of back and the proximal nail area. During the early two years of life, the patient develops edema and blistering in the upper air passages which is very dangerous. Enamel hypoplasia, growth retardation in children, multifactorial anemia, oral cavity lesions and esophageal strictures are also seen. Hand and feet mutilating disabilities are not seen in this form (National Organization for Rare Disorders 2003). In EBS, a characteristic feature of the blister formation is that they are of intact variety and the underlying skin is non-erythematous. Moreover, the skin is not extremely fragile and it cannot be easily torn under traction as compared to other types. The blisters later rupture and form open lesions. Pain and associated itching is a common finding. The site of the blister formation varies according to the sub-types of the EBS (National Organization for Rare Disorders 2003). For individuals suffering from this rare heritable condition, certain lifetime care procedures and precautionary measures have to be maintained to reduce the complications and pain. Skin care is one of the major priorities. Children should be provided with knee pads, water or air mattresses, shoulder pads or other bony prominence protection pads can be used to prevent minor traumas from affecting the fragile skin. Parents should be advised that the child’s skin should be not kept dry and if possible the home should be air-conditioned which can reduce the symptoms of itching. Patients should accept this chronic condition and make necessary precautions to reduce their condition features. Genetic counseling of such children’s parents is very necessary as they need to know the genetic origin of the disease and the chances that their other children might also get affected by this heredity state of disease. Parents or care givers who are sufficiently aware of the psychological, social and physical rehabilitative aspects of the disease are successful in supporting the affected individuals (Lin & Carter 1992). Part Three A case study of epidermolysis bullosa will elaborate the clinical features and its pattern of inheritance in the family. A young girl two years old manifests with blisters and open sores which occur immediately after even a slight trauma or friction. Some lesions leave a scar while others heal without scar formation. The lesions mostly occur in the upper and lower extremities, neck region and the forehead. She has also been experiencing hair loss, generalized pallor and teeth enamel scarring. Other symptoms include nail thickening, palmar and plantar thickening and oral lesions. On examination, anemia, signs of developmental deficiencies manifesting as mental retardation signs and hypertrophic hands and feet were evident. According to the mother, the symptoms have been becoming severe with the passage of time. Her family history on her mother’s side elaborated three similar cases in her close relatives out of which one died in the early years of life. The family history shows the inheritance patterns of the disease. On the basis of the blister and lesion distribution and the associated signs and symptoms what would be the most likely sub-type of epidermolysis bullosa, the girl might be suffering from? The historical perspective of epidermolysis bullosa highlights the course of development of the disease though the passing years and the research and studies on the variants of the disease. With new advancements in electron microscopy and detailed study of clinical manifestations a better classification for epidermolysis bullosa has been formulated. References Fine, J. D. (January 01, 2010). Inherited epidermolysis bullosa. Orphanet Journal of Rare Diseases, 5. Keefe, R. J. (January 01, 2008). Inherited epidermolysis bullosa: this dermal disease is beyond skin deep. Jaapa : Official Journal of the American Academy of Physician Assistants, 21, 7, 22-7. Lin, A. N., & Carter, D. M. (1992). Epidermolysis bullosa: Basic and clinical aspects. New York: Springer-Verlag. National Organization for Rare Disorders. (2003). NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins. Read More