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]

• Poor Feeding

  Despite successful surgical repair of the anatomical defect, the outcome is poor owing to poor feeding, malabsorption, failure to thrive, and sepsis. [ncbi.nlm.nih.gov]

  At day 5 of life, he began vomiting with poor feeding and was diagnosed with pyloric atresia (PA) for which he underwent gastrojejunostomy. [healio.com]

• Turkish

  Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. [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]

• Suprapubic Pain

  The patient complained of intermittent inability to pass urine, causing significant suprapubic pain, anxiety, and general discomfort. [ncbi.nlm.nih.gov]

• Normal Hair

  Patient 4 had the localisata variant of junctional epidermolysis bullosa, with predominantly acral blistering and normal hair. All patients had mutations in the COL17A1 gene encoding collagen XVII, a hemidesmosomal transmembrane protein. [ncbi.nlm.nih.gov]

• Skin Patch

  Further, photo-material and clinical history of the other four generalized JEB-nH patients demonstrated that each patient has revertant skin patches. In contrast, revertant mosaicism was not detected in the four localized JEB-nH patients. [ncbi.nlm.nih.gov]

• Cesarean Section

  A cesarean section may be recommended to protect the child from the skin trauma of birth. Open wounds and blistered skin is often covered with multiple layers of non-adhesive bandages and anyone handling the child must use extreme care. [counsyl.com]

• 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]

  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). [oadoi.org]

  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]

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]

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]

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]

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

Jo-David Fine, Epidermolysis Bullosa Registries and the Epidemiology of Epidermolysis Bullosa (EB), Blistering Diseases, 10.1007/978-3-662-45698-9_22, (265-274), (2015). Marcel F. Jonkman and Jemima E. [oadoi.org]

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]

We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotrimer in six JEB patients to determine how the type of genetic lesion influences the pathophysiology of JEB. [jem.rupress.org]

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]