Bullous Darier’s Disease

Familial Benign Pemphigus

I. Genetic

1. Mutation in SERCA 2 gene on chr. 12q 23-24.1

Mutation in genes^11,12 encoding golgi secretory pathway CA⁺² ATPase (SPCA1 ATP2 (1) on chr. 3q 21-q24

II Clinical Features

2. Onset in 1^st/2^nd decade

Onset in 3^rd/4^th decade

3. Males = Females

Males > Females

4. Low familial incidence

High familial incidence

5. Warty, greasy, malodourous papules

Vesicles to bullae present over the seborrhoeic sites.

Primary lesion is a flaccid vesicles and blisters on flexural sites which soon rupture because of friction and secondary infection. It is more common to find eroded, macerating, vegetating plaques

6. Lesions develop slowly

Lesions develop rapidly

7. Lesions static. Lesions never disappear permanently and progress to involve the entire body

Lesions disappear entirely, leaving no macroscopic changes except temporary pigmentation.

8. Recurrence of lesions are not seen  because they are irreversible unless  specific treatment is initiated

Recurrence is characteristic¹⁰

9.  Condition worsens in older people  progressive

Condition improves in older people.  Attacks are milder and less frequent as years go by

10.  Conjunctiva and cornea not attached

Conjunctiva and cornea may be attacked and has been reported

11. Palms and soles involved

Palms and soles normal

12.  Nails may be involved

Nails not involved

13.  Nikolsky sign negative

Nikolsky sign often positive

III Histology

14. Hyperkeratosis and follicular plugging`

Usually absent

15. Suprabasal clefts – smaller

Larger- lacunae exend laterally

16.  Dyskeratotic cells (corps ronds and grains) more evident

Less evident

17.  Acantholytic cells: less evident

More evident.

Foci of “dilapidated brick wall appearance “

IV Response To Treatment

a)  Topical and systemic steroids

b) No response to antibiotic treatment

c)  Oral retinoids have a variable response and in vivo systemic retinoids induce desquamation and skin fragility and aggravate lesions in bullous dariers.

a)         Topical antibiotics/antifungals – tetracyclines, fusidic acid, imidazoles

b)         Systemic steroids – short course in case of acute exacerbation

c)         Other-drugs–dapsone,cyclosporine,Grenz rays

d)         Methotrexate and retinoids in resistant cases