P02 Galli Galli disease: a rare variant of the genodermatosis Dowling–Degos disease

Abstract A 35-year-old woman presented with a 4-year history of persistent pruritic rash affecting her upper and lower limbs, concerning to the patient for cosmetic reasons. She denied any precipitating factors reported no improvement use topical clobetasol propionate. Notably, mother had similar rash, which also developed in 30s continued progress over time. Physical examination revealed bilateral symmetrical papular eruption superficial scale extensor surfaces limbs. The patient’s was reviewed clinical findings, although more generalized distribution noted. Skin biopsy from right thigh daughter showed acantholysis stratum spinosum dyskeratotic cells. Biopsy left elongation rete ridges foci increased basal pigmentation intraepidermal acantholysis. presence histologically confirmed diagnosis Galli–Galli variant Dowling–Degos disease (DDD). genetic basis DDD involves heterozygous loss expression mutation KRT5. Other implicated mutations include POGLUT1, POFUT1 PSENEN, are important melanosome transfer, differentiation melanocytes keratinocytes. remains therapeutic challenge. Reported treatments trialled retinoids, oral corticosteroids, narrowband ultraviolet, outcomes have been disappointing. Successful treatment erbium : yttrium aluminium garnet laser has reported. Owing progressive nature this condition, counselling regarding expectations is important.