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Int. J. Mol. Sci. 2017, 18(3), 635; doi:10.3390/ijms18030635

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

1
Kariminejad-Najmabadi Pathology & Genetics Center, #2, 4th Street, Hasan Seyf Street, Sanat Square, Tehran 14667-13713, Iran
2
Department of Dermatopathology, Razi Dermatology Hospital, Tehran University of Medical Sciences, Tehran 14167-53955, Iran
3
Department of Pathology, Cancer Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran 14197-33141, Iran
4
Clinical Genetics Division, Mofid Children’s Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 15514-15468, Iran
5
Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 19857-13834, Iran
6
Mashhad Medical Genetic Counseling Center, Social Welfare and Rehabilitation Organization, Mashhad 91767-61999, Iran
7
Division of Pediatric Endocrinology and Inherited Metabolic Disorders, Department of Pediatrics, Tehran University of Medical Sciences, Tehran 14197-33141, Iran
8
Institute of Medical Biology, A*STAR, Singapore 138648, Singapore
9
Center for Metabolic Diseases, Department of Pediatrics, University Hospitals Leuven, Leuven 3000, Belgium
10
Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland 9102-6500, The Netherlands
11
Hayward Genetics Center, Tulane University Medical School, New Orleans, LA 70112, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Anne De Paepe and Fransiska Malfait
Received: 9 December 2016 / Revised: 28 February 2017 / Accepted: 6 March 2017 / Published: 15 March 2017
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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. View Full-Text
Keywords: autosomal recessive cutis laxa 2A; autosomal recessive cutis laxa 2B; geroderma osteodysplastica; Pyrroline-5-carboxylate reductase 1 (PYCR1); ATPase, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2); GOLGIN, RAB6-INTERACTING (GORAB) autosomal recessive cutis laxa 2A; autosomal recessive cutis laxa 2B; geroderma osteodysplastica; Pyrroline-5-carboxylate reductase 1 (PYCR1); ATPase, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2); GOLGIN, RAB6-INTERACTING (GORAB)
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Kariminejad, A.; Afroozan, F.; Bozorgmehr, B.; Ghanadan, A.; Akbaroghli, S.; Khorram Khorshid, H.R.; Mojahedi, F.; Setoodeh, A.; Loh, A.; Tan, Y.X.; Escande-Beillard, N.; Malfait, F.; Reversade, B.; Gardeitchik, T.; Morava, E. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. Int. J. Mol. Sci. 2017, 18, 635.

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