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Epidermolysis Bullosa-Pyloric Atresia

EBS-PA


Presentation

  • We present a case of this association diagnosed by prenatal MRI with corroborative postnatal imaging and surgical findings.[ncbi.nlm.nih.gov]
  • Further studies are needed to assess which of the JEB varieties are present in the PA-JEB syndrome. ( Arch Dermatol. 1992;128:1083-1086)[jamanetwork.com]
  • The role of the various diagnostic tests is explained, and clinical manifestations of the specific diseases are presented with the aid of many high-quality illustrations.[books.google.com]
  • Six weeks after her second surgical procedure, the patient presented to the emergency room dead; the parents provided a typical scenario of sudden infant death syndrome at home.[ajol.info]
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]
Sudden Infant Death Syndrome
  • Six weeks after her second surgical procedure, the patient presented to the emergency room dead; the parents provided a typical scenario of sudden infant death syndrome at home.[ajol.info]
Overeating
  • Benefit from the experience of over 60 contributors from around the world lead by Drs. Lawrence F. Eichenfield and Ilona J. Frieden, two of the most important names in the fields of dermatology and pediatrics.[books.google.com]
  • In those who have a less serious type, the condition may improve over time and later in life, this group have minimal skin problems.[gosh.nhs.uk]
  • At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abdominal radiograph was thus performed and indicated absent gas in the small bowel and single bubble appearance of the stomach.[ajol.info]
  • The patient was referred to the department of dermatology with multiple bullae over the entire body. The patient had no family history of similar lesions.[synapse.koreamed.org]
Recurrent Vomiting
  • On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction.[casereports.bmj.com]
Pigmented Scar
  • Scarring can occur in simplex and junctional EB as a result of infection of erosions or scratching, which further damages the exposed surface.[ncbi.nlm.nih.gov]
Osteopenia
  • Screening with bone mineral density scanning may detect early osteopenia and/ or osteoporosis. No guidelines have been established regarding the age at which this should begin.[ncbi.nlm.nih.gov]
  • Patients with generalized forms of JEB and RDEB need to be monitored by serial DEXA scans for possible osteoporosis or osteopenia, and in selected EB subsets other laboratory parameters (hematological; renal) or diagnostic tests (echocardiogram) should[ojrd.biomedcentral.com]
Neglect
  • For patients, insult is thus added to injury and they feel abandoned, neglected, and frustrated.[books.google.com]

Workup

  • Keeping these differentials in mind further workup was done. Laboratory examination revealed leukocytosis, hyponatremia, and hypokalemia. Blood culture was negative.[ijpd.in]
  • An important part of the preoperative workup consists of assessing potential venous accesses, which may also be compromised due to the patient’s skin condition.[scielo.org.co]
Pseudomonas
  • Many affected individuals become infected with resistant bacteria, most often methicillin-resistant Staphylococcus aureus (MRSA), multidrug resistant Pseudomonas aeruginosa, and Group A beta-hemolytic Streptococci .[ncbi.nlm.nih.gov]

Treatment

  • There are no definite treatment modalities in the treatment of EB with pyloric atresia. The treatments are mainly symptomatic including conservative managements such as appropriate dressing, infection control and nutritional supplements.[synapse.koreamed.org]
  • Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients invariably present to the dermatologist for diagnosis and treatment.[books.google.com]
  • Is there a cure or treatment? Sadly at present there is no cure for EB. Research is progressing towards finding treatments to correct the faulty proteins responsible, but present treatment is to manage the symptoms.[gosh.nhs.uk]

Prognosis

  • CONCLUSIONS: The poor prognosis of this condition must be considered when decisions are made regarding surgical correction.[ncbi.nlm.nih.gov]
  • Moreover, regular follow-up is needed because of the poor prognosis of this disease and the possibility of urologic complications such as ureterovesical obstruction.[synapse.koreamed.org]
  • Prognosis is usually very poor. Death usually occurs during the first year of life, as a result of septic complications.[caribbean.scielo.org]
  • Prognosis The prognosis of CPA is variable, depending on the presence or absence of severe associated anomalies 8,53.[journals.lww.com]

Etiology

  • The familial occurrence in siblings and the association of the abnormality with hereditary epidermolysis bullosa suggests a genetic etiology.[jlc.jst.go.jp]
  • Investigation had not revealed a cause, suggesting a psychosomatic etiology. An electroencePhalogram was abnormal, suggesting that she might have psychomotor epilepsy.[kundoc.com]
  • Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy, New York: Springer Wien; 2009.[rarediseases.org]
  • Life with Epidermolysis Bullosa: Etiology, Diagnosis, and Multidisciplinary Care and Therapy Wien New York: Springer Verlag GmbH; 2009:258-277.[ojrd.biomedcentral.com]

Epidemiology

  • The epidemiology of inherited epidermolysis bullosa: findings in the US, Canadian and European study population. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors.[malattierare.regione.veneto.it]
  • Epidemiology Frequency United States The exact prevalence of epidermolysis bullosa is unknown. Mild variants have been estimated to occur as frequently as 1 per 50,000 births.[emedicine.medscape.com]
  • Google Scholar Fine JD: Epidemiology and the study of genetic diseases. Edited by: Grob JJ, MacKie R, Stern R, Weinstock M. Epidemiology and prevention of skin diseases London: Blackwell Science; 1996.[ojrd.biomedcentral.com]
  • Pediatr Dermtol 6:1–5 CrossRef Google Scholar Gedde-Dahl T Jr (1971) Epidermolysis bullosa: a clinical, genetic and epidemiological study.[doi.org]
  • “Epidermolysis bullosa: clinical, epidemiologic, and laboratory findings of the national epidermolysis bullosa registry”. 1999.[dermatologyadvisor.com]
Sex distribution
Age distribution

Pathophysiology

  • The aim of this study was to analyze clinically and histopathologically eight cases with EB-PA-ACC belonging to an extended Bedouin family to gain insight into the cause and pathophysiology of the disease.[ncbi.nlm.nih.gov]
  • Newborn Surgery, Third Edition provides a comprehensive compendium of the pathophysiology, investigation and management of neonatal disorders.[books.google.com]
  • Dermatologic conditions, in neonatology pathophysiology and management of the new born. Edited by C.B. 2nd ed. Philadelphia, Lippincott, 1987, p. 1230. 11. Moazam, F. and Lakhani, M. Ethical dilemmas of health care in the developingnstion. 3.[jpma.org.pk]
  • 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]
  • Moore 1 proposed a pathophysiological classification of congenital gastric-outlet obstruction due to pyloric atresia or gastric antral web.[journals.lww.com]

Prevention

  • It is important to understand this syndrome in order to anticipate medical complications and offer preventive strategies where possible. Prompt and expectant management of obstructive uropathy is crucial in these patients.[ncbi.nlm.nih.gov]
  • Blisters Blisters must be lanced with a hypodermic needle to prevent them from spreading. The roof should be left on the blister.[gosh.nhs.uk]
  • Some PLEC gene mutations prevent the cell from making any functional plectin, while other mutations result in an abnormal form of the protein.[ghr.nlm.nih.gov]
  • The greatest challenge may be to maintain a secure airway to prevent the formation of new blisters in the respiratory tract.[caribbean.scielo.org]

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