1. Skin conditions in Down’s syndrome Celia Moss Consultant Dermatologist Birmingham Children’s Hospital

2. Explanation This is a text-only version of the lecture given at the DSMIG meeting in London on 28 th November 2008.

3. Lecture summary Rare skin conditions seen in Down’s syndrome Common skin conditions that are more common in Down’s syndrome

4. Rare conditions seen in Down’s syndrome Neonatal blistering eruption with leukaemoid reaction Elastosis perforans serpiginosa Multiple syringomas Calcinosis cutis

5. Neonatal blistering eruption Present at or soon after birth Mostly on the face but can be anywhere May be associated with transient blood abnormality like leukaemia Usually gets better by itself Haematological follow-up required because  risk of myelodysplasia / leukaemia

6. Differential diagnosis “Milk spots” (sebaceous hyperplasia) Miliaria Infection –Staph –Candida –HSV –Pityrosporon Toxic erythema of the newborn Transient pustular melanosis Eosinophilic pustulosis

7. Elastosis perforans serpiginosa Scaly red papules a few mm across Arranged in lines or rings a few cm across Usually no symptoms May resolve spontaneously after a few years Cause? May be related to a connective- tissue abnormality in Downs syndrome

8. Multiple syringomas Erythematous papules a few mm diameter, may be confluent Central forehead, peri-oral, post auricular and forearms Asymptomatic (non-itchy) Appear in older children and adults No easy treatment

9. Calcinosis cutis Small, milia-like lesions dorsal surface of hands, and face Sometimes results from calcification of pre-existing syringomas

10. Common conditions that are more common in Down’s syndrome Autoimune disorders Dry skin conditions Infections Poor peripheral circulation

11. Common conditions that are more common in Down’s syndrome Autoimune disorders –Alopecia areata –Vitiligo? Dry skin conditions Infections Poor peripheral circulation

12. Links between AA and Down’s? AA occurs in up to 8.8% of Down’s General increased autoimmunity? Specific link with chromosome 21? –AA occurs in 30% of people with APS-1 (Autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy) which maps to the Down’s critical region on 21

13. Alopecia areata Differential diagnosis –Tinea capitis: inflammatory, scaly alopecia Treatment –None –Topical steroid –?topical tacrolimus –UV –Contact sensitiser eg diphencyprone Bad prognostic indicators –Atopy –“ophiasic” pattern (occipital area) –Probably Down’s syndrome

14. Vitiligo: differential diagnosis Post inflammatory hypopigmentation Seborrhoeic dermatitis Pityriasis alba

15. Vitiligo: management Nothing Sunscreens Topical steroid Topical tacrolimus camouflage

16. Common conditions that are more common in Down’s syndrome Autoimune disorders Dry skin conditions Infections Poor peripheral circulation

17. Common conditions that are more common in Down’s syndrome Autoimune disorders Dry skin conditions –Xerosis –Seborrhoeic dermatitis –Loss of elasticity and accelerated ageing –Keratosis pilaris –Hyperkeratotic psoriasis –Patchy lichenified/discoid eczema Infections Poor peripheral circulation

18. Emollients Avoid bubbles (degreasing) Encourage bathing (hydration) Provide enough emollient –up to 1kg per week Acknowledge cultural practice eg –Baby oil / lotion –Cocoa butter –Olive oil –Almond oil –Mustard oil Provide choice…

19. “I only use a tiny amount of steroid” “I believe in slapping on the steroid” Benefits of steroids outweigh harms when used correctly

20. Finger-tip units for topical steroids

21. Common conditions that are more common in Down’s syndrome Autoimune disorders Dry skin conditions Infections –Cheilitis –Folliculitis and blepharitis –Norwegian scabies –Fungal infections of the feet and nails Poor peripheral circulation

22. Cheilitis Presentations: –angular cheilitis –lip fissuring –fissured tongue may become chronic may be due to  carriage of staph aureus and candida albicans management: –Swab and treat infection –Regular grease especially at bedtime

23. Staph aureus folliculitis Prophylactic antiseptics better than repeated antibiotics antiseptic can be used in the bath and as emollient –eg chlorhexidine, benzalkonium (Oilatum Plus®, Dermol 500®)

24. Pityrosporon (yeast) Presentations –Dandruff –Blepharitis –Seborrhoeic dermatitis –Folliculitis, especially shoulders Treat with anti-dandruff or anti yeast preparations –eg clotrimazole, selenium sulphide

25. Treatment of dermatophytes and yeasts Dermatophytes –topical imidazoles Terbinafine Amorolfine NOT NYSTATIN –systemic griseofulvin terbinafine itraconazole Yeasts –topical imidazoles Nystatin (candida) Selenium sulphide (pityriasis versicolor) –systemic fluconazole NOT GRISEOFULVIN

26. Treatment of dermatophytes and yeasts Topicals –Cream for skin –Lacquer for nails –powder for crevices (prevention) Systemic –Griseofulvin now tablets only –terbinafine - tablets only –imidazoles - tablets or liquid

27. Dividing griseofulvin 125mg tablets 10-20mg/kg Tablet crusherTablet cutter

28. Common conditions that are more common in Down’s syndrome Autoimune disorders Dry skin conditions Infections Poor peripheral circulation

29. Common conditions that are more common in Down’s syndrome Autoimune disorders Dry skin conditions Infections Poor peripheral circulation –Cutis marmorata –Acrocyanosis Common in newborns Persist longer in Down’s syndrome May reflect cardiac defect