Acta Dermato-Venereologica 97-10CompleteContent | Page 29

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SHORT COMMUNICATION
Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin
Claudia CARNEVALE 1 , Daniele CASTIGLIA 2 , Andrea DIOCIAIUTI 1 , Vittoria PROTO 2 , Simona GIANCRISTOFORO 1 , Renata
BOLDRINI 3 , Giovanna ZAMBRUNO 1 and May EL HACHEM 1
Dermatology Division, 3 Pathology Unit, Bambino Gesù Children’s Hospital-IRCCS, P.zza St Onofrio 4, IT-00165 Rome, 2 Laboratory of Molecular
and Cell Biology, Istituto Dermopatico dell’Immacolata, IDI-IRCCS, Rome, Italy. E-mail: [e-mail]
1
Accepted Jul 5, 2017; Epub ahead of print Jul 6, 2017
Lipoid proteinosis (LP), also referred to as hyalinosis
cutis et mucosae or Urbach-Wiethe disease, is a rare
autosomal recessive genodermatosis characterized by
a hoarse voice, and thickening of the skin and mucous
membranes with pox-like scarring (1, 2). Onset is usually
in infancy, with hoarse cry, while skin lesions can mani-
fest in early childhood or later. They consist of yellowish
infiltrated papules and nodules, and verrucous hyperkera-
tosis of the elbows, knees and buttocks. Beaded papules
of the eyelids, also known as moniliform blepharosis,
are the most typical sign of the disease. In addition, skin
fragility may be present during childhood, resulting in
trauma-induced vesicles and blis-
ters with residual acneiform scars.
Mucosal lesions always comprise
vocal cord and laryngeal thick-
ening, accompanied by variable
tongue, palate, and lip infiltration.
Extracutaneous signs may include
epilepsy and neuropsychiatric
disorders associated with cerebral
calcifications (1, 2). LP is charac-
terized by periodic acid–Schiff
(PAS)-positive basement mem-
brane thickening around blood
vessels, adnexa, and along the
dermal–epidermal junction (DEJ),
as well as hyaline deposition in
the dermis. The disease is due
to mutations in the ECM1 gene,
which has 4 major splice variants
encoding isoforms of extracel-
lular matrix protein 1 involved in
the structural organization of the
dermis (1–4).
following years, skin thickening over the elbows, knees, and but-
tocks developed gradually, while skin fragility waned. Papular
lesions on the eyelid borders were noticed at 11 years of age. On
admission, physical examination revealed beaded papules of the
eyelids, atrophic and hypochromic scars on the limbs and buttocks,
verrucous skin plaques of the knees, buttocks and elbows (Fig.
1a, c). The lip commissures presented small waxy papules, and
the tongue was slightly thickened with reduced mobility due to a
short and infiltrated frenulum (Fig. 1e). The hair and nails were
not affected. In addition, the patient presented hoarseness, but no
breathing problems. He was otherwise healthy and never mani-
fested epilepsy or other neurological signs. LP was suspected and
laryngoscopy, cerebral computed tomography (CT) scan and a skin
biopsy performed. Laryngoscopy showed focal thickening of the
CASE REPORT
A 17-year-old male was referred to
our Rare Skin Disease Center with
hoarseness worsening over the pre-
vious 2 years. He was the first son of
healthy non-consanguineous parents.
In infancy he had presented trauma-
induced vesicles and blisters on the
legs and nappy area, followed a few
months later, by similar lesions on the
hands and dysphonia. At the age of 3
years, he had received a diagnosis of
epidermolysis bullosa simplex. In the
Fig. 1. Patient’s clinical and imag ing features. (a) Moniliform blepharosis at presentation and (b)
after 6 months of acitretin therapy. (c) Elbow skin thickening and hyperkeratosis also appear markedly
improved (d) after 6 months of acitretin treatment. (e) Lingual frenulum and lip commissure infiltration.
(f) Cerebral computed tomography (CT) scan showing bilateral symmetrical calcifications of the mesial-
temporal lobes (arrows).
This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta
Journal Compilation © 2017 Acta Dermato-Venereologica.
doi: 10.2340/00015555-2752
Acta Derm Venereol 2017; 97: 1249–1251