Additional immunohistochemical staining demonstrated that
these cells were strongly positive for CD123, CD138, CD33
and myeloperoxidase, which are markers that are frequently
expressed on leukaemia blast cells (Fig. 2b–d).
A bone marrow biopsy conﬁrmed the suspected diagno-
sis of AML (subtype M2 of the French–American–British
A diagnosis of unusual LC in AML was made, and
chemotherapy with 5-azacytidin was initiated, resulting in
a rapid reduction of peripheral blood blast cells as well as
clinical improvement of the leg ulcer. However, the patient
died 2 months later because of progression of his AML.
LC most frequently occurs in chronic lymphocytic leukae-
mia and AML.
In a large study of 381 patients with AML,
LC was found in 14 (3.7%), but only 1 had AML subtype
In the majority of cases, LC is observed in patients who
already have a diagnosis of leukaemia, whereas simultane-
ous manifestation of cutaneous and systemic involvement is
less frequent (approximately 25%).
LC preceding haemato-
logical detection of leukaemia in the peripheral blood or bone
marrow, as seen in our patient, is very rare.
LC may present as localized or generalized lesions, with
the latter occurring predominantly in acute types of leukae-
mia. Clinically, LC most frequently manifests as papules,
nodules or plaques with a characteristic reddish or viola-
ceous colour. Interestingly, speciﬁc leukaemic inﬁltrates
also manifest at sites of previous trauma, within lesions of
inﬂammatory skin diseases and in skin tumours.
been reported that complex chemokine/chemokine-recep-
tor interactions (e.g. CCR5, CXCR4, CXCR7, and CX3CR1)
orchestrate the migration of leukaemic cells to the skin, a
phenomenon called ‘skin selective homing’.
local trauma and venous insufﬁciency might have been
predisposing factors for homing and retention of AML blast
cells in our patient’s leg ulcer.
Prognosis of LC is usually poor, and it has been
reported that up to 90% of patients will die within the
ﬁrst year after their diagnosis of LC, especially patients
and C. Tigges
Department of Dermatology, Venereology, and Allergology, HELIOS
St. Elisabeth Hospital Oberhausen, University Witten-Herdecke,
Oberhausen, Germany; and
Institute of Pathology, M
ulheim an der
Conﬂict of interest: the authors declare that they have no conﬂicts of
Accepted for publication 8 May 2017
1 Wagner G, Fenchel K, Back W, Schulz A, Sachse MM.
Leukemia cutis – epidemiology, clinical presentation, and
differential diagnoses. J Dtsch Dermatol Ges 2012; 10:27–36.
2 Agis H, Weltermann A, Fonatsch C et al. A comparative
study on demographic, hematological, and cytogenetic
ﬁndings and prognosis in acute myeloid leukemia with
and without leukemia cutis. Ann Hematol 2002; 81:90–5.
3 Ratnam KV, Khor CJL, Su WPD. Leukemia cutis. Dermatol
Clin 1994; 12: 419–31.
4 Smoller BR, Warnke RA. Cutaneous inﬁltrate of chronic
lymphocytic leukemia and relationship to primary cutaneous
epithelial neoplasms. J Cutan Pathol 1998; 25:160–4.
5 Faaij CM, Willemze AJ, R
esz T et al. Chemokine/
chemokine receptor interactions in extramedullary
leukaemia of the skin in childhood AML: differential roles
for CCR2, CCR5, CXCR4 and CXCR7. Pediatr Blood Cancer
2010; 55: 344–8.
A unique clinical phenotype of a patient bearing a
newly identiﬁed deletion mutation in the PSENEN
gene along with the pathogenic serum
A 45-year-old Japanese man ﬁrst presented with multiple
folliculitis and cysts with pigmentation and scarring, which
looked like acne conglobata (AC) (Fig. S1). At 54, he
exhibited recurrent formation of skin abscesses and ﬁstulae
on his scalp, axilla and buttock (Fig. 1a,b). On the buttock,
the abscesses had developed into a huge induration with
sinus tracts and granulation tissue, similar to that seen in
hidradenitis suppurativa (HS) (Fig. S2). Moreover, severe
scales and hyperpigmentation were densely distributed
over the whole body, accompanied by skin blisters and ero-
sions mainly on the hands and feet (Fig. 1c–f).
Histological examination of a skin biopsy specimen
from a blister on the dorsum of the patient’s hand
revealed subcorneal blisters and acantolysis with dyskera-
totic keratinocytes within the granular cell layer
(Fig. S3a,b). Immunohistochemical investigation showed
IgG deposition in the upper epidermal layers (Fig. S3c). A
specimen from the scaly pigmented lesion on the abdo-
men showed acantolysis, hyperkeratosis and epidermal
hyperplasia accompanied by melanin incontinence
(Fig. S4a,b). The follicular hyperkeratosis was identiﬁed
as keratin plugs that had peeled off from the follicular
infundibulum (Fig. S4c,d).
Serum desmoglein (Dsg)1 antibody titre was elevated
to over 3000 (normal range < 14), while the Dsg3 anti-
body titre was within normal limits.
The patient’s son also exhibited multiple folliculitis and
cysts, but did not have elevated serum Dsg1 antibody
level (Fig. 2a).
Because the patient had a family history of chronic
suppurative skin lesions, c-secretase gene analysis was
performed. The genetic screening was performed by using
peripheral blood, following approval by the institutional
Clinical and Experimental Dermatology (2018) 43, pp319–335
ª 2018 British Association of Dermatologists