Epidermolysis Bullosa (EB) is a group of inherited bullous disorders characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. Recent discoveries of the molecular basis of EB have resulted in the development of new diagnostic tools.
The disorder occurs in every racial and ethnic group throughout the world and affects both sexes. As the onset of EB is at birth or shortly after, infancy is an especially difficult time for EB patients. Generalized blistering caused by any subtype may be complicated by infection, sepsis, and death. In patients with EB that survive childhood, the most common cause of death is metastatic squamous cell carcinoma (SCC).
EB subtypes have been classified as per the skin morphology i.e. depth of blister location within the skin layers, and the location of the dissolution of the skin:
1. EB simplex (EBS): intra-epidermal skin separation; Most cases of EBS are associated with mutations of the genes coding for keratins 5 and 14, most of which are inherited dominantly and interfere with keratin filament assembly
2. Junctional EB (JEB): skin separation in lamina lucida or central BMZ characterized by spontaneous blistering of the skin and mucous membranes. It has a highly variable molecular etiology and represents a collection of different diseases and more than half of JEB cases are caused by 1 of 2 recurrent nonsense mutations in the LAMB3 gene, which is helpful for mutation analysis and prenatal testing.
3. Dystrophic EB (DEB): sublamina densa BMZ separation, which can lead to scarring in a deeper tissue level and in all cases it is associated with mutations of the gene coding for type VII collagen (COL7A1).
4. Researchers have recently proposed a new category termed Hemidesmosomal EB (HEB), which produces blistering at the hemidesmosomal level in the most superior aspect of the BMZ.
EBS usually is associated with little or no extracutaneous involvement, while the more severe other forms of EB may produce significant multiorgan system involvement.
It is a must to perform a complete physical examination with an emphasis on inspection of all skin, as well as conjunctival, oral, and genital mucosae. Evaluate the size, location, and character of blisters. Attempt to assess the general level at which lesions split. Usually, superficial blisters manifest as crusted erosions, intraepidermal blisters are flaccid and may expand under pressure, and intralamina lucida blisters are tense and heal with atrophy but no scarring. Sublamina densa blisters heal with scarring and milia formation. Assessment for involvement of nails, hair, or teeth is also required.
It is now supposed that with a better understanding of the basement membrane zone (BMZ) and the genes responsible for its components the newer treatments like Gene or protein therapy, bone marrow transplantation may provide solutions to the skin fragility found in patients with EB.
Whereas the dominant system of medicine prides itself for its micro-level microscopic approach, the Homoeopathic physician appreciates a larger view of life, that is to say, Holistic approach!
- A 6 months old girl diagnosed with Epidermolysis Bullosa was brought by her parents on 26-6-07.
- On observation the child was having a wheatish complexion, dark eyes, brown hair, depressed nasal bridge and was cranky.
- She was also having a susceptibility to cold and cough.
- Her intra-uterine history did not reveal anything apart from anxiety of the mother about the completion of pregnancy because of her past obstetric history. She had suffered with 2 spontaneous abortions (at 2nd and 4th month) and then a still birth just prior to this conception.
- The generals did not reveal any other marked feature.
Rx Syphilinum 30, 1 dose.
The obstetric history provided the 1st clue i.e. abortions- 1st in second month, 2nd in fourth month followed by a still born child and then finally a live birth- a pattern signifying syphilitic stigma.
The next clue was the depressed nasal bridge of the child, as found on observation, again a syphilitic stigmata.
I have had the privilege of learning Syphilinum from my Guru Prof L. M. Khan and recognised these 2 prized indications.
The child has done wonderfully well and needed no other remedy or repetition. Her skin has gradually cleared up and her susceptibility to cold and cough has also normalised. She has been followed up for about 15 months now and is now leading a normal life as can be seen from the photographs below……….. She has had no recurrence or any new lesion since Jan 08.
Homoeopathy should be practised precisely as per the directions of Master Hahnemann delineated in Organon. The treatment should consequently be directed towards the patient presenting with a nosological tagging or a diagnosis, in the above case Epidermolysis Bullosa. This is the only way to a sure shot cure!
It is worthwhile to recall the words of Dr Bernie S. Siegel in Love, Medicine and Miracles, ‘There are no incurable diseases, only incurable people.’
Our skin has 2 layers: the outer layer is known as epidermis and the inner layer dermis. In normal individuals, there are “anchors” between the two layers that prevent them from moving independently from one another. People born with EB, lack the anchors consequently any action that creates friction between the layers (like rubbing or pressure) will create blisters and painful sores. Sufferers of EB have compared the sores to third-degree burns. Children with the condition have also been described as “Cotton Wool Babies” or “Butterfly Children”.
The exception occurs in mild cases of EBS, which may remain undetected until adulthood or occasionally remain undiagnosed.
This skin cancer occurs specifically in patients with recessively inherited EB (RDEB) who most commonly are aged 15-35 years. In contrast, dominantly inherited EBS and DEB and milder forms of JEB may not affect a patient’s life expectancy adversely.
A severe form of the disease, JEB gravis is often fatal early in life. Death occurs as a result of epithelial blistering of the respiratory, digestive and genitourinary systems.
Prof L. Khan has highlighted other characteristic features of the facies of Syphilinum (Physiognomy): Asymmetry; notched, wide spaced, short teeth; knobby nose; conical high arched palate; pouting lower lip etc.
Dr Gyandas G Wadhwani
Sr. Medical Officer (H), Dte of ISM & Homoeopathy, GNCT of Delhi
Email: [email protected]