196 © 2003 European Academy of Dermatology and Venereology
CASE REPORT
JEADV (2003) 17, 196–199
Blackwell Science, Ltd
Acantholytic dyskeratotic naevi following Blaschko’s lines:
a mosaic form of Darier’s disease
M Gilaberte, L Puig,* D Vidal, A Alomar
Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Av Sant Antoni M Claret, 167, 08025 Barcelona, Spain. *Corresponding author,
tel. +34 93 2919013; fax +34 93 2919136; E-mail: lpuig@hsp.santpau.es
ABSTRACT
Darier’s disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between
epidermal cells and abnormal keratinization. Several patients with unilateral, linear, ‘zosteriform’ or localized
lesions have been reported. We report three cases of DD in a localized pattern corresponding to mosaicism
type 1 according to Happle’s classification and review the literature about the genetic cause of DD and DD
in a ‘zosteriform’ pattern.
Key words: ATP2A2, Blaschko’s lines, Darier’s disease, mosaicism, SERCA, zosteriform
Received: 17 December 2001, accepted 10 April 2002
Introduction
Darier’s disease (DD) in a localized ‘zosteriform’ pattern was
first reported by Kreibich in 1906.
1
Since then, several patients
with unilateral, linear or ‘zosteriform’ epidermal lesions with
the histological and clinical characteristics of DD have been
reported.
2–5
Therefore, some investigators have suggested that
these unilateral lesions should be classified as acantholytic
dyskeratotic epidermal naevi rather than localized DD.
However, there are reports suggesting that acantholytic
dyskeratotic epidermal naevi are localized forms of dyskeratosis
follicularis (DD).
6
We present three new cases of unilateral DD from the
Department of Dermatology, Hospital de la Santa Creu i Sant
Pau (Barcelona, Spain) and a review of the literature about the
aetiology of DD.
Case reports
Patient 1
An 87-year-old man had an extensive pruritic eruption on the
left side of his trunk for 40 years, which tended to worsen
during summer and improve spontaneously in winter. None of
his family members had a similar lesion. Examination revealed
confluent hyperkeratotic and hyperpigmented papules, which
were distributed according to Blaschko’s lines (fig. 1). There was
no mucous membrane or nail involvement. A biopsy specimen
revealed acantholytic dyskeratotic cells in the upper epidermis
with suprabasal clefts. Mild hyperkeratosis, exocytosis, focal
granulosis and lymphocytic cell infiltration were also observed
(fig. 2). Topical treatment with 0.05% retinoic acid was
minimally effective and led to significant irritation. Marked
improvement was achieved following a 2-month course of
treatment with oral acitretin, 10 mg/d. Systemic retinoids were
stopped because of adverse effects (increased cholesterol serum
level).
Patient 2
A 20-year-old healthy woman had recurrent brownish papules
on the left side of the trunk for 2 years. The lesions were pruritic
and the dermatosis recurred after sun exposure. No other
member of her family had skin problems. Physical examina-
tion revealed small keratotic papules in a linear metameric
distribution on the lateral part of the left trunk (fig. 3).
Histological features were consistent with DD, showing corps
ronds and grains, acantholysis, lacunae and lymphocytic
infiltrate (figs 4 and 5). We made a diagnosis of segmental DD.
Lesions improved after a 4-month course of treatment with
topical 0.05% retinoic acid, but new lesions have been recurring
during the summer.