Darier′s disease with perifollicular hypopigmentation

Guttate leukoderma in darier disease: A rare presentation

“…Guttate leukoderma in DD may be misdiagnosed as tinea versicolor, lichen sclerosus, idiopathic guttate hypomelanosis, or follicular vitiligo. [3] Extragenital lichen sclerosus atrophicans (LSA) presents with pruritic, porcelain-white, shiny slightly elevated interfollicular papules; however, in our patient, lesions were non shiny, non atrophic perifollicular macules with absence of pruritus, wrinkling, and telangiectasia. Moreover, lesions are generally grouped in LSA and often coalesce into larger plaques; however, in our patient, lesions were present since a long time with no coalescing; so, diagnosis of LSA was unlikely.…”

“…[2] Small leukodermic macules were first described by Goodall and Richmond in a patient of DD in 1965. [3] Hypopigmented macules in DD is rare. Terrom et al in a recent review on this association identified only 21 cases of DD with guttate leukoderma in the English- and French-language literature reported till now.…”

Hypopigmented Segmental Darier Disease

“…15 Except for a case reported by Goh and colleagues, 16 almost all were found in dark-skinned individuals. 17,18 It typically presents as a widespread perifollicular eruption of hypopigmented macules. Although hyperkeratotic papules may be found, the hypopigmentation remains the main clinical feature.…”

“…Although hyperkeratotic papules may be found, the hypopigmentation remains the main clinical feature. 16–19 It was previously thought that the hypopigmented macules were either precursor lesions or postinflammatory changes of the more classic hyperkeratotic papules. 16,17,19 However, the increasing number of reported cases devoid of papular lesions or macules evolving into hyperkeratotic papules suggest that this hypopigmented eruption is a distinct variant rather than a precursor or postinflammatory sequela of classic Darier disease in dark-skinned individuals.…”

“…To explain such a clinical presentation, it was hypothesized that the lack of keratinocyte adhesion caused by the ATP2A2 gene mutation results in a dysregulated melanin transfer. 16,18,19 Calcium is known to play an important role in regulating cell differentiation and in initiating assembly of desmosomes. 5,8 As a result of ATP2A2 mutation, desmosome assembly and cell adhesions are disrupted, leading to acantholysis.…”