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Herlitz Disease

Herlitz's Disease


Presentation

  • A four-month-old boy was presented with generalised blisters after minor trauma since birth. There was no family history of blistering diseases or consanguinity. Skin examination revealed blisters primarily on the upper and lower extremities.[ncbi.nlm.nih.gov]
  • Compare your clinical findings to more than 1,400 full-color, high-quality photos that capture the characteristic presentation of a full range of dermatopathology specimens.[books.google.de]
  • Martin Carter Springer Science & Business Media , ٠٦‏/١٢‏/٢٠١٢ - 302 من الصفحات Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients invariably present to the dermatologist for diagnosis and treatment.[books.google.com]
  • These symptoms are present from birth. Occasionally people with the disease survive into their teens, however 87% die in the first year of life. People with H-JEB lack anchors to hold the layers of their skin together.[counsyl.com]
  • The paper, presented here at the 24th Meeting of the European Neurological Society (ENS), is the product of a joint effort of the European Federation of Neurological Societies and the European Association for Palliative Care.[herlitz.com]

Workup

  • Progress logically from the histologic pattern, through the appropriate workup, around the pitfalls, to the best diagnosis.[books.google.de]
Hepatocellular Carcinoma
  • carcinoma, childhood-onset Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome with periventricular heterotopia Frontometaphyseal dysplasia Osteodysplasty, Melnick-Needles type Otopalatodigital[csbg.cnb.csic.es]

Treatment

  • One way to remedy this deplorable situation is to provide clinicians with a compact source of information de tailing the principles of EB diagnosis and treatment. This text seeks to fulfill this role.[books.google.com]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.de]
  • There are no successful treatments other than to protect the child as much as possible from skin damage and treat symptoms as they arise. A cesarean section may be recommended to protect the child from the skin trauma of birth.[counsyl.com]
  • One of the authors, David Oliver, BSc, FRCP, FRCGP, geriatrician at Wisdom Hospice and consultant in palliative medicine at the University of Kent, United Kingdom, said that for progressive and disabling neurologic diseases without curative treatment,[herlitz.com]

Prognosis

  • What is the prognosis for a person with Herlitz Junctional Epidermolysis Bullosa, LAMB3-related? The prognosis for a person with H-JEB is poor. Roughly 87% will die within the first year of life, and all will die by the late teens.[counsyl.com]
  • Nonmedical aspects such as the level of education, the degree of social support and the attitude towards stress also appear to influence the prognosis.[books.google.de]
  • Prognosis: Life expectancy less than 6 months. Ancillary treatments and support: Skin care, antibiotics, delicate physical manipulation. Specialists and specialty centers: Dermatologists, nutritionists, pediatricians.[wohproject.org]
  • Prognosis The prognosis of EB varies depending on the subtype of the disease. Individuals with EB simplex can live long, fulfilling lives. The severity of the junctional and dystrophic forms of EB can vary greatly.[encyclopedia.com]
  • This severe disease is characterized by generalized intralamina lucida blistering at birth, significant internal involvement, and a poor prognosis.[raregeneticdisorder.blogspot.com]

Etiology

  • […] 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]
  • Age and etiology of childhood epidermolysis bullosa mortality. J Dermatol Treat. 2015;26(2):178–82. Google Scholar Yuen WY, Jonkman MF.[bmcnephrol.biomedcentral.com]

Epidemiology

  • Disentis type Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • The epidemiology of inherited epidermolysis bullosa In: Fine JD, Bauer EA, McGuire J, Moshell A (eds). Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry.[nature.com]
  • Clinical, epidemiologic and laboratory advances and the findings of the National Epidermolysis Bullosa Registry.[link.springer.com]
  • Relevant External Links for LAMC2 Genetic Association Database (GAD) LAMC2 Human Genome Epidemiology (HuGE) Navigator LAMC2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LAMC2 No data available for Genatlas for LAMC2 Gene Structure of[genecards.org]
  • Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry. Baltimore: Johns Hopkins Univ Press, 1999. Fitzpatrick, Thomas B., Richard A.[encyclopedia.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology is related to mutations in the genes that encode Keratins 5 and 14. These keratins make up part of the scaffolding that anchors basal keratinocytes to the basement membrane.[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]
  • 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]

Prevention

  • Apart from risk factors of relevance in primary prevention, secondary prevention is dependent on the extent of the disease itself; in other words the number of vessels involved, the extent of myocar dial damage and the degree of electrical instability[books.google.de]
  • Antibiotics are often prescribed for infection and antiseptics used to prevent infection. A dietitian should be consulted for an infant’s proper nutrition. People with H-JEB should drink plenty of fluids to avoid dehydration.[counsyl.com]
  • Your skinHolds body fluids in, preventing dehydrationKeeps harmful microbes out, preventing infectionsHelps you feel things like heat, cold, and painKeeps your body temperature evenMakes vitamin D when the sun shines on itAnything ...[medicbind.com]
  • We focused on the main features in the anaesthetic management of these patients considering the preparation of the monitoring and surgical equipment to prevent skin damage by friction and the difficulties establishing venous accesses and airway management[es.glosbe.com]
  • Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates[icdlist.com]

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