Please use this identifier to cite or link to this item: https://doi.org/10.3390/ijms18030635
Title: Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
Authors: Kariminejad, A
Afroozan, F
Bozorgmehr, B
Ghanadan, A
Akbaroghli, S
Khorshid, H.R.K
Mojahedi, F
Setoodeh, A
Loh, A
Tan, Y.X
Escande-Beillard, N
Malfait, F
Reversade, B 
Gardeitchik, T
Morava, E
Keywords: autosomal recessive cutis laxa 2a
autosomal recessive cutis laxa 2b
cataract
cognition
congenital hip dislocation
cutis laxa
geroderma osteodysplastica
human
lipodystrophy
long philtrum
microcephaly
muscle hypotonia
osteopenia
palpebral fissure
phenotype
Review
short stature
wrinkle
adult
Bone Diseases
case report
child
cutis laxa
differential diagnosis
dwarfism
female
infant
male
phenotype
preschool child
Skin Diseases, Genetic
syndrome
Adult
Bone Diseases
Child
Child, Preschool
Cutis Laxa
Diagnosis, Differential
Dwarfism
Female
Humans
Infant
Male
Phenotype
Skin Diseases, Genetic
Syndrome
Issue Date: 2017
Publisher: MDPI
Citation: Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, H.R.K, Mojahedi, F, Setoodeh, A, Loh, A, Tan, Y.X, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T, Morava, E (2017). Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. International Journal of Molecular Sciences 18 (3) : 635. ScholarBank@NUS Repository. https://doi.org/10.3390/ijms18030635
Rights: Attribution 4.0 International
Abstract: Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. Rather, the clinical phenotype of ARCL2B includes severe wrinkling of the dorsum of the hands and feet, wormian bones, athetoid movements, lipodystrophy, cataract and corneal clouding, a thin triangular face, and a pinched nose. Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. Here we present 10 Iranian patients who were initially diagnosed clinically using the respective features of each cutis laxa syndrome. Each patient’s clinical diagnosis was then confirmed with molecular investigation of the responsible gene. Review of the clinical features from the cases reported from the literature also supports our conclusions. © 2017 by the authors. Licensee MDPI, Basel, Switzerland.
Source Title: International Journal of Molecular Sciences
URI: https://scholarbank.nus.edu.sg/handle/10635/183539
ISSN: 1661-6596
DOI: 10.3390/ijms18030635
Rights: Attribution 4.0 International
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