Dr Saleem Taibjee. Consultant Dermatologist & Dermatopathologist
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1 Dr Saleem Taibjee Consultant Dermatologist & Dermatopathologist
2 Case S and S F50. Previous blistering, now marked milia on dorsum of hands. 4mm punch biopsy
3 The best diagnosis is: Bullous lupus Porpyhria cutanea tarda Epidermolysis bullosa acquisita Pseudoporphyria
4 S
5
6 Blistering pitfall Blistering maybe subtle or absent in true blistering disorders Milia with scarring is a clue to a subepidermal blistering process
7 S
8 Cell-poor subepidermal blister
9 Weedon s textbook
10 PAS
11 Caterpillar bodies
12 Collagen IV
13 Exclude porphyria Pseudoporphyria Porphyria cutanea tarda Hereditary coproporphyria 2 of: Urine / faecal / plasma / red cell porphyrins Possible culprit drugs NSAIDs; naproxen Antibiotics; doxycycline, nalidixic acid Diuretics; furosemide, bumetanide, hydrochlorthiazide Retinoids; isotretinoin, acitretin Oral contraceptives
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15 Another case F60. 5/12 erythematous scaly patch with scarring, alopecia and milia.? BCC
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17 Milia with scarring = Clue to deeper sub-epidermal blistering disorder
18 Micro-Nikolsky sign
19 Micro-Nikolsky sign: D Metze, ISDP Barcelona 2011 Shearing force of rotation of punch produces blister at edge
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23 Be brave! Richard Carr s report (summary): Dense lymphoplasmacytic infiltrate with vascular proliferation and papillary dermal fibrosis. Occasional eosinophils. Subepidermal clefting over a wide area, especially in specimen B. Although regression of tumour is a possibility we have also considered cicatricial pemphigoid.
24 Brunstig-Perry pemphigoid Immunofluorescence: Linear IgG deposition along basement membrane zone Variant of cicatricial pemphigoid Lesions limited to forehead & scalp
25 Dystrophic nails Another case Itchy plaques on shins
26 Violaceous plaques Intact blisters Milia Scarring
27 Milia with scarring = clue to subepidermal blistering disorder
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32 Histology summary Milia Scarring Subepidermal blister Lichenification Inflammation including eosinophils?immunobullous disorder e.g. pemphigoid
33 Fibrinogen IgG Courtesy of Balbir Bhogal, St John s Institute of Dermatology
34 Family history?????
35 Mutation analysis of COL7A1 (+/-) c.6215a>g,p.gln2072arg, exon 74 Dominant dystrophic epidermolysis bullosa pruriginosa
36 1 st described by Kuske in 1946¹ Term EB pruriginosa coined by McGrath et al in 1994² Rare subtype of DEB³ Autosomal dominant / autosomal recessive / sporadic Late onset disease not uncommon 1. Kuske H. Dermatologica 1946; 91: McGrath et al. Br J Dermatol 1994; 130: Schumann H et al. Br J Dermatol 2008;159:
37 Normal skin DDEB Blister
38 EB pruriginosa learning points Hereditary condition BUT.. - Late onset - Significant intra-familial variability Unusual clinical features - Pruritic - May lack blisters Histological features - Milia with scarring +/- blister - Inflammation including eosinophils
39 Learning points Milia and scarring can be clinical / histological presentation of subepidermal blistering disorders Pseudoporphyria Cicatricial pemphigoid (Brunstig-Perry) Epidermolysis bullosa Pseudoporphyria is one cause of cell-poor subepidermal blistering Pseudoporphyria can persist even after stopping the culprit drug
40 Acknowledgements Eduardo Calonje Richard Carr Sivanie Vivehanantha Andrew Ilchyshyn Adam Fityan
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