A 15-day-old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. Biopsy specimens from the nail beds were nondiagnostic. [ncbi.nlm.nih.gov]

Some patients with junctional epidermolysis bullosa mitis can present with blistering localized to the intertriginous regions. [raregeneticdisorder.blogspot.com]

• Recurrent Infection

  infections and early lethality. [ncbi.nlm.nih.gov]

• Nail Abnormality

  Abstract We report an infant with Herlitz junctional epidermolysis bullosa (JEB) presenting at birth with erosions on the scalp, thigh and periumbilical area in addition to nail abnormalities. [ncbi.nlm.nih.gov]

• Poor Growth

  Finally, newly restored laminin 332 corrected the abnormal cellular phenotype of H-JEB cells by reversing abnormal cell morphology, poor growth potential, poor cell-substratum adhesion, and hypermotility. [ncbi.nlm.nih.gov]

• Refractory Anemia

  In addition, respiratory distress, refractory anemia and failure to thrive are often seen. Mortality in the first year of life approaches 90%. [ncbi.nlm.nih.gov]

• Short Arm

  These findings demonstrate, in a patient in vivo, that the β3 short arm is also involved in the outcome of the granulation tissue response. [ncbi.nlm.nih.gov]

  […] congenita due to underlying malformation Aplasia cutis congenita following intra-uterine infection Aplasia cutis congenita in association with epidermolysis bullosa Aplasia cutis congenita secondary to malformation syndrome Aplasia cutis in Chromosome 4 short-arm [icd9data.com]

  The short arms contain globular domains flanked by EGF-like repeats as depicted by the small circles. The long arms of the three chains are associated in an α-helical coiled-coil of approximately the same length as in laminin-1, 600 AA. [jem.rupress.org]

• Renal Insufficiency

  Further course was complicated by progressive skin detachment, sepsis, and renal insufficiency with fatal outcome at 18 days of age. [ncbi.nlm.nih.gov]

• Albuminuria

  The patient had massive albuminuria, attributable to failure of the glomerular filtration barrier, and high urinary N-acetylglucosaminidase levels, indicating renal tubular involvement. [ncbi.nlm.nih.gov]

• Staphylococcus Aureus

  The patient underwent dental treatment in the operating room under general anesthesia and had a medical history of junctional epidermolysis bullosa, prior secondary anemia, clubbed feet, and past methicillin-resistant Staphylococcus aureus infection secondary [ncbi.nlm.nih.gov]

  This experimental antibiotic ointment has proved efficacy in eradicating cutaneous pathogens such as Staphylococcus aureus from chronic wounds. [vivo.med.cornell.edu]

  Infections must be taken care of immediately and very cautiously because they can lead to Methicillin-Resistant Staphylococcus aureus. Antibiotics and antiseptics need to be applied. In Children, fluid and important electrolyte problems may occur. [wiki.ggc.edu]

  Jonkman and Jan Maarten van Dijl, Host–pathogen interactions in epidermolysis bullosa patients colonized with Staphylococcus aureus, International Journal of Medical Microbiology, 10.1016/j.ijmm.2013.11.012, 304, 2, (195-203), (2014). [dx.doi.org]

Postoperatively the patient exhibited minimal blistering secondary to intubation and dental treatment. [ncbi.nlm.nih.gov]

Upon seeking treatment in Germany, he had lost the epidermis from almost his entire body, with only his head and a patch on his left leg remaining. [en.wikipedia.org]

Audiometry and creatinine clearance tests will be performed throughout the study to monitor for the emergence of any treatment-related adverse events. [clinicaltrials.gov]

With this treatment we can improve the chewing function. [oatext.com]

Early recognition is necessary for timely intervention, but prognosis can be serious and mortality is high. [ncbi.nlm.nih.gov]

( J Clin Invest 2009;119:1784 ) Junctional: blisters within lamina lucida, skin appears normal Dystrophic: blisters are sub-lamina densa; dominant or recessive Kindler syndrome: blisters at multiple levels (intra-lamina lucida and sub-lamina densa) Etiology [pathologyoutlines.com]

[…] is characterized by generalized erosions, palmoplantar keratoderma, painful fissures, and some nail dystrophy and hair loss. [5] Molecular pathology of junctional epidermolysis bullosa Junctional epidermolysis bullosa has a highly variable molecular etiology [emedicine.medscape.com]

Etiology/Causes With epidermolysis bullosa, the fragility of skin and mucosa in which erosions occur because of slight mechanical trauma are inadvertently the result of defects in structural proteins within the epidermis. [physio-pedia.com]

(Etiology) Epidermolysis Bullosa (EB) is caused due to mutations of the genes encoding proteins that are responsible for holding the layers of skin together. The normal human skin is made up of 3 layers called the epidermis, dermis, and subcutis. [dovemed.com]

As will be discussed elsewhere, rigorous epidemiological case finding methods were used to identify and recruit participants throughout the United States. [dx.doi.org]

This article outlines the epidemiology, presentation, and diagnosis of JEB-H. Morbidity and mortality are high, necessitating optimized protocols for early (including prenatal) diagnosis and palliative care. [ncbi.nlm.nih.gov]

In Brazil, there was no epidemiological data recorded [6]. [oatext.com]

Hands and fingers may be affected, as well as various joints. [2] Pathophysiology [ edit ] α6β4 integrin is a transmembrane protein found in hemidesmosomes. [en.wikipedia.org]

As knowledge about the pathophysiology of EB has become more advanced, new variants of EB have been identified based on their specific genetic mutation. [ 1 ] Investigations [ 11 ] Skin biopsy is required. [patient.info]

Based on pathophysiology, EB has been classified into three major subtypes that include their own genetic abnormalities: ► EB simplex In EB simplex, the gene that helps make keratin, a fibrous protein in the top layer of skin, is faulty. [physio-pedia.com]

The oral endotracheal tube fastener was used in a nontraditional manner to avoid contact of the oral tube and tape with the epidermis and thus prevent blistering. [ncbi.nlm.nih.gov]

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]