Extracts from the Lectures of the 32nd Nordic Congress of Dermato-Venereology, Tampere, Finland
Dermal Aplasia and Sclerocornea) syndrome. MLS/MIDAS
syndrome is a rare X-linked dominant neurocutaneous
disease with in utero male lethality. Besides cutaneous and
ocular abnormalities, additional manifestations include
developmental delay, short stature, heart, central nervous
system and genitourinary tract abnormalities. The candidate
gene, HCCS, encoding the mitochondrial holocytochrome
c-type synthase, is involved in the mitochondrial respiratory
chain and in apoptosis pathways. The mother carrying the
same genetic abnormality may be completely asymptomatic
(random X inactivation).
Katariina Hannula-Jouppi, Helsinki, Finland: Acrodermatitis
Enteropathica. Acrodermatitis enteropathica (AE) is a rare
autosomal recessive form of zinc de?ciency characterized
by periori?cial and acral dermatitis, alopecia, and diarrhoea.
Symptoms begin soon after birth in bottle fed infants and
after weaning in breastfed infants. Mutations in SLC39A4
lead to de?cient zinc/iron transfer by hZIP4, leading to
inadequate zinc absorption from the intestine and low
plasma zinc levels. Treatment of AE requires lifelong daily
oral zinc supplementation 3 mg/kg/day (1–5 mg/kg). Clinical
response is observed within days to a few weeks.
SIRKKU PELTONEN1 AND
LEENA ACKERMANN2
Departments of Dermatology, 1Turku
University Hospital, and 2Helsinki
University Hospital, Finland
E-mail: sipelto@utu.?,
leena.ackermann@hus.?
Lupus
Lupus erythematosus (LE) is a complex, multifactorial autoimmune disease. Nailfold videocapillaroscopy (NVC) is a fundamental imaging technique used in the clinical examination
of patients with different autoimmune diseases. It has evident
diagnostic and prognostic power especially in systemic sclerosis but also in other systemic connective tissue diseases. NVC
is based on light microscopy, usually using 200 magnitude
lens. It offers a good tool to distinguish between primary and
secondary Raynaud’s phenomenon (RP). Primary RP is quite
common, occurring in 15–20% of young females. The presence of giant capillaries and microhaemorrhages are typical for
early pattern changes of a systemic collagenosis like systemic
scleroderma, systemic LE (SLE) or even dermatomyositis. An
increase in these features and loss of capillaries (active pattern)
is followed by neo-angiogenesis and ?brosis. The proceeding
?ndings in videocapillaroscopy correlate usually with the
activity of the systemic collagenosis.
Diagnosis and classi?cation of cutaneous LE(CLE) is based on
clinical features, positive serology/autoantibodies, abnormalities
132
Nordic Dermato-Venereological Congress, Tampere
Fig. 1. Nailfold videocapillaroscopy changes: a) giant capillaries, b) microhemorrhages, c) loss of capillaries and d) neoangiogenesis.
in blood count and complements and on immune histology.
ANA antibodies are positive in 5–10% of discoid LE (DLE) patients, in 60–80% of subacute CLE (SCLE) and in over 90% of
SLE patients. Ro/SSA- and La/SSB antibodies are characteristic of
SCLE (positivity in 70–90% and 30–50%, respectively) but they
are positive also in Sjögren syndrome. Sm-antibodies are positive in 10–30% of SLE patients. DNA-antibodies refer to SLE and
are seen in 40–90% of this patient group. Histone- antibodies
are seen in drug-induced lupus (DILE): in up to 95% of classic
DILE with systemic symptoms of lupus, only in up to 33% of
drug-induced SCLE, in up to 57% of anti-TNF -induced DILE
and in up to 50% of
idiopathic SLE. In
the pathogenesis of
lupus, the environmental triggers (hormones, viruses, UV
light, drugs) and genetic factors together
with either increased
!"#$
production and/or
reduced clearance
of apoptotic blebs
lead to initiation of
autoimmunity. Complement deficiency
is also related to SLE.
A number of CLEassociated risk genes
have been shown like
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IRF5, TYK2, ITGAM,
CTLA4 and STAT4.
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Fig. 2. Clinical appearances of discoid lupus
erythematosis (DLE), subacute cutaneous LE
(SCLE) and systemic LE (SLE).
P o p u l a t i o n -based
epidemiological data
on CLE are now reported, both from
Sweden and USA.
The incidence of Ro/
SSA-positive SCLE in
Forum for Nord Derm Ven 2013, Vol. 18, No. 4