We present one family with both dystrophic and pruriginosa phenotypes of epidermolysis bullosa. [ncbi.nlm.nih.gov]

We present a case of EBP showing rapid clinical response to dupilumab after multiple failed alternative treatments, a response which has been sustained for 9 months thus far. [jaadcasereports.org]

We present three cases belonging to this subtype. Case Reports Case no 1. A 26 -year- old woman presented with pruritic skin lesions on the extensor aspects of forearms and legs since the age of 14 years. [ijdvl.com]

• Inflammation

  Epidermolysis Bullosa Pruriginosa: a Case With Prominent Histopathologic Inflammation. JAMA Dermatol. 2013;149(6):727-31. PubMed PMID: 23616197. TY - JOUR T1 - Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. [wwww.unboundmedicine.com]

  Intriguingly, treatment with topical tacrolimus 0.03% led to marked improvement in the inflammation on the legs but had little effect on the scalp. [ncbi.nlm.nih.gov]

  In this case, no blisters or signs of lichenoid inflammation were seen at the dermoepidermal junction. [karger.com]

  However, whether BP180 5 is involved in skin inflammation remains unknown. To address this question, we generated a BP180-6 dysfunctional mouse strain and found that mice ... [medworm.com]

  Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. JAMA Dermatol. 2013 ;149: 727 - 731. Google Scholar | Crossref | Medline | ISI 4. Ghosh, S, Chaudhuri, S, Jain, VK. [journals.sagepub.com]

• Pruritus

  Traditional treatment is largely supportive, including avoidance of trauma, use of protective clothing, wound care, and treatment of pruritus. [jaadcasereports.org]

  Her second cousin once removed, however, reported a mild blistering disease without pruritus consistent with DEB. [ncbi.nlm.nih.gov]

  Pruritus can manifest in all forms of EB secondary to wound healing. [medicaljournals.se]

• Skin Disease

  A 71-year-old man with no family history of skin diseases presented with a 4 month history of recalcitrant pruritic papules and nodules on the lower extremities. [ncbi.nlm.nih.gov]

  A skin condition that is scratched open, sometimes subtyped by the adjective “ excoriée ”, is a feature of a number of skin diseases, such as acne and atopic dermatitis. [medicaljournals.se]

  DEB pruriginosa subtype (DEB-Pr) is characterized by fragile skin, blisters, pruritic lichcnoid papules on the shins and toenail dystrophy; some cases have a very late onset [1]. [muni.cz]

  Prior to his visit to us, he had been treated for the skin disease with various modalities, including topical and systemic steroids, with no long-lasting benefit. No family members of the patient had any similar skin disease. [rkmsevapratishthan.org]

• Pruritic Rash

  CASE REPORT A 53-year-old Singaporean Chinese first presented to the National Skin Centre, Singapore, 14 years ago with severely pruritic rashes on the lower limbs. [ijdvl.com]

  CASE REPORT A 53‑year‑old Singaporean Chinese first presented to the National Skin Centre, Singapore, 14 years ago with severely pruritic rashes on the lower limbs. [docksci.com]

• Chronic Urticaria

  […] pruritus worsened by psychosocial factors (eczema, nodular prurigo, chronic urticaria, pruritus in the genital region, senile pruritus); * psychogenic disorders causing pruritus (itchy somatoform disorder/functional disorder, dermatitis factitus, impulse [go.galegroup.com]

• Suggestibility

  Clinical features and pedigree analysis suggest that 6899A-->G substitution is a mutation with full penetrance and variable expressivity. [ncbi.nlm.nih.gov]

  Discussion This additional case of EBP responding to dupilumab suggests that this therapy should be viewed as a valid treatment option for this rare condition and suggests that blockade of interleukin (IL) 4 and/or IL-13 might be an option for treatment [jaadcasereports.org]

Immunofluorescent assays for IgA, IgG, IgM, C1q, and C3 as well as serum epidermal IgG, celiac disease antibodies, and autoimmune workups were negative. [longdom.org]

Traditional treatment is largely supportive, including avoidance of trauma, use of protective clothing, wound care, and treatment of pruritus. [jaadcasereports.org]

| 2014 12 Itch in familial lichen amyloidosis: effective treatment with amitriptyline in two cases Yew, Yik Weng / Tey, Hong Liang | 2013 16 Desferrioxamine treatment of porphyria cutanea tarda in a patient with HIV and chronic renal failure Vasconcelos [tib.eu]

Furthermore anti-IgE therapy offers a possible new targeted treatment for EBP in the absence of curative treatments. [longdom.org]

Treatment Treatment ** The aims of treatment are : 1- Reducing pruritus 2- Preventing scarring 3- Improving the patient’s quality of life. ** The most frequently used treatments for EBP are potent topical steroids under occlusion, or intralesional steroids [interactivederma.com]

General measures Avoid trauma Protective clothing Wound care Topical treatment of itch Topical and intralesional steroids Topical tacrolimus (off-label use) UVB phototherapy Systemic treatment Antihistamines Off-label use of dapsone, ciclosporin, and [dermnetnz.org]

Prognosis Prognosis varies considerably and is based on both EB subtype and the overall health of the patient. The documents contained in this web site are presented for information purposes only. [orpha.net]

The prognosis was explained to the patient and he was given symptomatic treatment. [e-ijd.org]

Prognosis. Generally, the prognosis in EBS is good, particularly in the common localized type, with the great majority of patients having a normal life expectancy. [plasticsurgerykey.com]

• Bistering in mouth is mild and teeth normal• Perianal lesions – intense pain• Clinically often impossible to distinguish from Dominant DEB• Good long term prognosis 50. [slideshare.net]

Etiology Each EB subtype is known to arise from mutations within the genes coding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying [orpha.net]

( 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]

Folliculitis decalvans (FD) is a primary neutrophilic scarring alopecia of unclear etiology affecting the scalp of young adults [ 3 ]. [karger.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]

Summary Epidemiology All types and subtypes of EB are rare; the overall incidence and prevalence of the disease in the United States are approximately 1/53,000 live births and 1/125,000, respectively, and similar estimates have been obtained in some European [orpha.net]

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]

Fine JD (1999) The epidemiology of inherited EB: findings within American, Canadian and European study populations. [link.springer.com]

Source: Journal of Investigative Dermatology - April 20, 2019 Category: Dermatology Authors: Tags: Epidemiology Source Type: research We report long term follow-up results of a single-center phase 1/2a study of 7 RDEB patients who underwent grafting of [medworm.com]

The epidemiology of inherited epidermolysis bullosa. Findings in US, Canadian, and European study populations. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. [nature.com]

The pathophysiology of EB pruriginosa remains unexplained. [ncbi.nlm.nih.gov]

[…] have been investigated, but thusfar no specific insight into EB-Pr has emerged.2 Also, meta-bolic factors, including immunoglobulin E levels, iron defi-ciency and biochemical or endocrinological abnormalities,have been studied but do not explain the pathophysiology [documents.tips]

Tang Tags: Clinical Research: Pathophysiology and Therapeutics Source Type: research Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited mechanobullous disorder associated with blisters, chronic wounds, scars, contractures, pain, and itch [medworm.com]

The pathophysiology of pruritus-A review for clinicians. Progress in Palliative Care 2016;24:133-146. Koga H, Teye K, Yamashita K. Detection of anti-type VII collagen IgE antibodies in epidermolysis bullosa acquisita. [longdom.org]

Treatment Treatment ** The aims of treatment are : 1- Reducing pruritus 2- Preventing scarring 3- Improving the patient’s quality of life. ** The most frequently used treatments for EBP are potent topical steroids under occlusion, or intralesional steroids [interactivederma.com]

Wound care Open wounds must be dressed to encourage healing and prevent adherence to clothing. [gosh.nhs.uk]

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]

Treatment for epidermolysis bullosa There's currently no cure for EB, so treatment aims to relieve symptoms and prevent complications developing, such as infection. [nhs.uk]

Therapy should be directed toward prevention of skin trauma to avoid new blister formation, prevention of secondary bacterial infection, aggressive treatment of infection when it occurs, measures to improve wound healing, maintenance of good nutrition [nature.com]