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]

• Amyloidosis

  His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. [ijdvl.com]

• Disability

  Read about carers' breaks and respite care and get tips on caring for a disabled child. [nhs.uk]

  The improvement in bullous skin lesions and disabling pruritus after Omalizumab treatment further supports the etio-pathological role of IgE. [longdom.org]

  The lesions were intensely pruritic to disturb the child who was already slightly disabled with low IQ. PEB shows appreciable clinical overlap with another rarely described DEB subset, DEB-Pr. [ijpd.in]

  So great is this effect that some patients who have marked disability in hot summer weather may have little or none in the winter. [plasticsurgerykey.com]

• Dermatitis

  The patient was seen for exacerbation of facial atopic dermatitis. [medicaljournals.se]

  This form of inherited epidermolysis bullosa may not develop clinically until adult life, leading to diagnostic confusion with acquired disorders, such as nodular prurigo, lichen simplex, lichen planus, hypertrophic scarring, or dermatitis artefacta. [ncbi.nlm.nih.gov]

  These include lichen planus hypertrophicus, lichen simplex chronicus, cutaneous amyloidosis, Neekam's disease and dermatitis artefacta. [e-ijd.org]

  A short-term trial of tacrolimus ointment for atopic dermatitis N Engl J Med. 1997;337816- 821PubMedGoogle ScholarCrossref 8. [jamanetwork.com]

• 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]

• Eczema

  ► Dyshidrotic eczema Dyshidrotic eczema is a chronic, recurrent skin disease that effects the palms and soles symmetrically. It often is a very intense and painful condition that can have a very devastating impact on quality of life. [physio-pedia.com]

  Seishima M. 2011 42 COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. ( 21196708 ) Pruneddu S....Zambruno G. 2011 43 Common IL-31 gene haplotype associated with non-atopic eczema [malacards.org]

  The combination between the nervous system and skin diseases is reflected by the exacerbation of pruritic skin lesions of psoriasis, acne, hives, eczema and many more, after stressful events (5). [go.galegroup.com]

  Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. Acta Derm Venereol. 2010;90(6):631–2. Article PubMed Google Scholar Mangold AR, Cole CM, DiCaudo DJ, Pittelkow MR, Sekulic A. [link.springer.com]

  Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. Acta Derm Venereol. 2010;90(6):631–2. CrossRef PubMed Google Scholar 23. Mangold AR, Cole CM, DiCaudo DJ, Pittelkow MR, Sekulic A. [doi.org]

• Cutaneous Manifestation

  OBSERVATIONS We report a case of dominant dystrophic EB pruriginosa with late-onset cutaneous manifestations. A biopsy specimen showed subepidermal blistering with prominent inflammatory cells, including numerous eosinophils. [wwww.unboundmedicine.com]

  We report a case of dominant dystrophic EB pruriginosa with late-onset cutaneous manifestations. A biopsy specimen showed subepidermal blistering with prominent inflammatory cells, including numerous eosinophils. [ncbi.nlm.nih.gov]

  manifestations by several years. [interactivederma.com]

  Observations We report a case of dominant dystrophic EB pruriginosa with late-onset cutaneous manifestations. A biopsy specimen showed subepidermal blistering with prominent inflammatory cells, including numerous eosinophils. [dialnet.unirioja.es]

  Observations: We report a case of dominant dystrophic EB pruriginosa with late-onset cutaneous manifestations. A biopsy specimen showed subepidermal blistering with prominent inflammatory cells, including numerous eosinophils. [kclpure.kcl.ac.uk]

• Lichenification

  Epidermolysis bullosa pruriginosa Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of connective tissue Atypical scarring of skin Abnormality of the integument Abnormality of the nail Atypical scarring of skin Fragile skin Lichenification [familydiagnosis.com]

  The rarity of intact blisters, prominent nature of some of the scars and the marked lichenification with severe pruritus lead to a confusion with commoner disorders, like lichen simplex chronicus, lichen planus hypertrophicus and dermatitis artefacta. [e-ijd.org]

  Histological features included subepidermal blistering, vascular proliferation, subtle fibrosis, milia, marked lichenification, and mild to moderate perivascular lymphocytic infiltrates. [jamanetwork.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]

• Lymphocytic Infiltrate

  Histological features included subepidermal blistering, vascular proliferation, subtle fibrosis, milia, marked lichenification, and mild to moderate perivascular lymphocytic infiltrates. [jamanetwork.com]

  The pathology revealed hyperkeration,acanthosis,fissure formation under epidermis, and lymphocyte infiltration around blood vessel in upper dermis.2. [globethesis.com]

  The dermis may show moderately dense lymphocytic infiltrate. The keratinous cysts have been linked to be of eccrine origin. [10] The mainstay of treatment for this condition includes prevention of trauma and local wound care. [ijpd.in]

  There was mild interstitial and perivascular polymorpho-lymphocytic infiltrate in the upper and mid-dermis. Milia were also observed in few sections. He could not afford the cost of immmunofluorescence or molecular studies. [ispub.com]

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]