Dr Saleem Taibjee. Consultant Dermatologist & Dermatopathologist

Transcription

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

14

15 Another case F60. 5/12 erythematous scaly patch with scarring, alopecia and milia.? BCC

16

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

20

21

22

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

28

29

30

31

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