Extracts from the Lectures of the 32nd Nordic Congress of Dermato-Venereology, Tampere, Finland
thickening of the horny layer is still unknown. Hopefully, all
this new knowledge will soon lead to new therapeutic ideas.
ANDERS VAHLQUIST
Department of Dermatology, University
Hospital, SE-751 85 Uppsala, Sweden
E-mail: anders.vahlquist@medsci.uu.se
What is New in Neuro?bromatosis 1
Neuro?bromatosis type 1 (NF1) is an autosomally dominantly
inherited syndrome which has typical diagnostic ?ndings on
skin. Dermatologists can make the diagnosis based on caféau-lait macules, skinfold freckles and cutaneous neuro?broma
tumours. In addition to being a dermatological disease, NF1
is a multiorgan syndrome with ?ndings and symptoms from
several organ systems. About 30% of the patients have a decreased bone mineral density or osteoporosis which leads to
more than a 5-fold increased risk for bone fractures. Speech
abnormalities and various craniofacial aberrations are also common, including the presence of mucosal neuro?bromas in the
mouth. Because of the multiorgan nature of the disease, NF1
patients require a multidisciplinary approach in healthcare.
Another elastin associated heritable disorder, pseudoxanthoma
elasticum (PXE) manifests with yellowish papules coalescing
into loose and inelastic skin, in association of characteristic
ocular and vascular manifestations. The pathomechanisms
of PXE include mineralization of elastic structures in the
affected organs. PXE is caused by mutations in the ABCC6
gene expressed primarily in the liver, suggesting that PXE is
a metabolic disorder.
Recently, an interesting combination of clinical manifestations
has been encountered consisting of loose and sagging skin
suggestive of cutis laxa in association of PXE-like cutaneous
?ndings. Instead of ABCC6, the mutant gene was shown to
be GGCX which encodes an enzyme required for activation
of matrix gla protein, an anti-mineralization factor. The
distinction of cutis laxa vs. PXE in these patients can be made
by histopathology of skin which demonstrates accumulation
of pleomorphic elastic structures in mid dermis with profound
mineralization, ?ndings characteristic of PXE.
In summary, abnormalities in the elastic ?bers can result in a
spectrum of cutaneous manifestations, and accurate diagnosis
by histopathologic examination is required in order to arrive
at proper diagnosis and classi?cation, with potential implications for treatment of these disorders.
JOUNI UITTO
Department of Dermatology and Cutaneous Biology,
Jefferson Medical College, Philadelphia, PA, USA
E-mail: jouni.uitto@jefferson.edu
SIRKKU PELTONEN
Department of Dermatology, Turku
University Hospital, FI-20521 Turku,
Finland
E-mail: sipelto@utu.?
Differential Diagnosis of Cutaneous Elastin Disorders: Cutis Laxa vs. Pseudoxanthoma Elasticum
Disorders of the elastic ?bers with skin manifestations were
reviewed. The prototype of such disorders is cutis laxa, a
heterogeneous group of connective tissue disorders with the
diagnostic hallmark of loose and sagging skin with loss of
elasticity and recoil due to paucity of elastic ?bers. The skin
?ndings are often associated with extracutaneous manifestations, including pulmonary emphysema, inguinal and umbilical hernia, vascular abnormalities, and gastrointestinal and
urinary track diverticula. The clinical heterogeneity of cutis
laxa re?ects the fact that mutations have been identi?ed in a
number of different genes, many of them involved in elastin
?brillogenesis, including those encoding elastin as well as
?bulins 4 and 5.
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Nordic Dermato-Venereological Congress, Tampere
Cowden’s Syndrome (Multiple Hamartoma)
Cowden’s syndrome (multiple hamartoma) is an autosomal
dominant inherited disease due to mutations in PTEN located on chromosome 10q22-q23. The pathophysiology and
symptoms of the disease were reviewed. A 64-year-old man
was presented with multiple mucocutaneous facial papules
(tricholemmomas), oral mucosal papillomatosis and acral
and palmoplantar keratoses, together with thyroid adenoma,
multiple intestinal polyposis and mental retardation. The skin
tumours were removed by electrosurgery with partial success.
BARBARA GASIOR-CHRZAN
Department of Dermatology, University
of Tromsø, NO-9012 Tromsø, Norway
E-mail: barbara.gasior-chrzan@uit.no
Forum for Nord Derm Ven 2013, Vol. 18, No. 4