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Epidermolysis Bullosa Simplex
EEB
Presentation
- […] at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present. [1] : 598 [2] : 556 17q12-q21 ( KRT5 ), 12q13 ( KRT14 ) 131900 Localized epidermolysis bullosa simplex[en.wikipedia.org]
- Genetic sequencing revealed a heterozygous G138E KRT5 variant, present in approximately 10% of the European population and only rarely associated with pathology.[ncbi.nlm.nih.gov]
Eyes
Ptosis
- In a series of 6 patients with epidermolysis bullosa simplex associated with muscular dystrophy, 3 demonstrated ptosis, ophthalmoplegia, or both.[ncbi.nlm.nih.gov]
- With Dilated Cardiomyopathy. ( 30120936 ) Schwieger-Briel A...Has C 2018 9 An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex. ( 30099737 ) Peking P...Wally V 2018 10 Pediatric Ophthalmoplegia and Ptosis[malacards.org]
Musculoskeletal
Pharyngeal Muscle Weakness
- He was re-evaluated at age 17 and demonstrated significant ptosis, ophthalmoparesis, and pharyngeal muscle weakness. He had predominant proximal muscle weakness with the inability to raise arms against gravity.[ncbi.nlm.nih.gov]
Proximal Muscle Weakness
- He had predominant proximal muscle weakness with the inability to raise arms against gravity. He was ambulatory for short distances but lost the ability to rise from the floor at 14 years.[ncbi.nlm.nih.gov]
Myopathy
- […] myofibrillar changes, and mitochondrial abnormalities comprising respiratory chain dysfunction and an altered organelle distribution and amount.Our study demonstrates that EBS-MD causing PLEC mutations universally result in a desmin protein aggregate myopathy[ncbi.nlm.nih.gov]
Muscle Hypotonia
- Generalized muscle hypotonia, dysphagia and difficulty in breathing were also observed from birth. Laboratory examination at birth revealed markedly elevated levels of creatine kinase (CK) (11,852U/L, normal value; 60-400U/L).[ncbi.nlm.nih.gov]
Skin
Skin Patch
- The 1649delG allele of K5 can also result in EBS-Migr, and this too is characterized by the appearance of hyper- or hypopigmented skin patches in adults ( 76 ).[dx.doi.org]
Oral Blisters
- Those with EBS may have thickened calluses on the palms and soles, oral blistering during infancy and rough, thickened fingernails/toenails. EBS does not usually scar. There are rare recessive forms.[rarediseases.org]
Urogenital
Incontinence
- Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation.[ncbi.nlm.nih.gov]
Workup
Other Pathologies
Lymphocytic Infiltrate
- We found abundant CD4 and CD8 T lymphocytes infiltrating the papillary dermis and lining the dermal-epidermal junction. A number of these cells expressed the activation marker CD69.[ncbi.nlm.nih.gov]
- We found abundant CD4 and CD8 T lymphocytes infiltrating the papillary dermis and lining the dermal–epidermal junction. A number of these cells expressed the activation marker CD69.[dx.doi.org]
Treatment
- The treatment consisted of multiple plantar injections of Btx A or Btx B after prior regional or general anaesthesia. Patients were interviewed about the treatment effect and were asked to score the improvement from 0 to 5, where 5 is 'excellent'.[ncbi.nlm.nih.gov]
- Jennings JL Aluminum chloride hexahydrate treatment of localized epidermolysis bullosa. Arch Dermatol 1984;120 (10) 1382 PubMed Google Scholar Crossref 2.[jamanetwork.com]
Prognosis
- Prognosis Prognosis is highly dependent on the subtype. Most patients have a normal life expectancy but significant morbidity and even early death may occur in some subtypes.[orpha.net]
- In conclusion, genotype-based prognosis should be given to patients with caution. 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. KEYWORDS: G138E; KRT14; epidermolysis bullosa simplex; hyperkeratosis; molecular dynamics[ncbi.nlm.nih.gov]
- The treatment offered is symptomatic including blister wound care, use of painkillers, nutritional support, and supportive care The prognosis depends on the type of Epidermolysis Bullosa. Junctional EB individuals usually die within the first year.[dovemed.com]
- What is the prognosis of epidermolysis bullosa? The prognosis of epidermolysis bullosa is almost entirely dependent on the specific structural of the genetically altered protein.[medicinenet.com]
Etiology
- The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia.[ncbi.nlm.nih.gov]
- Etiology EBS is caused by genetic mutations in specific genes depending on the subtype. Diagnostic methods Diagnosis is based on determination of the epidermal level within which blisters develop following minor skin traction.[orpha.net]
- We conclude that GGT deficiency may be etiologically related to this disease in some families, but that different defects must be the cause in other cases. (N Engl J Med. 1981; 304: 197–204.)[nejm.org]
Epidemiology
- Our data give further insight into the natural history of EBS molecular pathology, epidemiology and mutation origin. KEYWORDS: Epidermolysis bullosa simplex (EBS); KRT14; KRT5[ncbi.nlm.nih.gov]
- Summary Epidemiology Reported prevalence ranges from 1/215,000 in the USA to 1/35,000 in Scotland.[orpha.net]
- As will be discussed elsewhere, rigorous epidemiological case finding methods were used to identify and recruit participants throughout the United States.[dx.doi.org]
- “Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Findings of the National Epidermolysis Bullosa Registry”. 1999.[clinicaladvisor.com]
Sex distribution
Age distribution
Pathophysiology
- The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia.[ncbi.nlm.nih.gov]
- Pathophysiology of EB simplex: straightforward, and yet...[dx.doi.org]
- The pathophysiology of this disorder has been traced to the fragility of the skin layer organization, primarily attributed to abnormal structure and/or architecture of keratin microfilaments in the skin, resulting in skin that is fragile and sensitive[nature.com]
Prevention
- Air-conditioning may help in preventing disease worsening in warm weather.[orpha.net]
- The main goal of treatment is to keep the skin protected to prevent new blisters from forming. Avoiding skin trauma and infections as well as keeping the patient comfortable are also important.[wiki.ggc.edu]
- Completely preventing blisters is not possible. Once they form, blisters should be lanced and drained to prevent them from becoming larger.[my46.org]
- Hence, a minor injury, such as friction or rubbing, can separate the skin layers easily, resulting in painful skin tearing or blistering EB is not a preventable condition. However, blistering and complications can be prevented to a certain extent.[dovemed.com]
- Keratolytics and softening agents for hyperkeratosis (thickening of the skin) of the palms and soles may prevent tissue from thickening and cracking.[rarediseases.info.nih.gov]