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Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica

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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.
Keywords
WRINKLY SKIN SYNDROME, ALTERED GLYCOSYLATION, CONNECTIVE-TISSUE, BRAIN, DYSGENESIS, DEBRE TYPE, MUTATIONS, OSTEODYSPLASTICA, PHENOTYPE, ATP6V0A2, FAMILIES, autosomal recessive cutis laxa 2A, autosomal recessive cutis laxa 2B, geroderma osteodysplastica, Pyrroline-5-carboxylate reductase 1 (PYCR1), ATPase, H plus transporting lysosomal V0 subunit A2 (ATP6V0A2), GOLGIN, RAB6-INTERACTING (GORAB)

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Chicago
Kariminejad, Ariana, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, et al. 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).
APA
Kariminejad, A., Afroozan, F., Bozorgmehr, B., Ghanadan, A., Akbaroghli, S., Khorshid, H. R. K., Mojahedi, F., et al. (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).
Vancouver
1.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorshid HRK, et al. Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2017;18(3).
MLA
Kariminejad, Ariana et al. “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 (2017): n. pag. Print.
@article{8529627,
  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.},
  articleno    = {635},
  author       = {Kariminejad, Ariana and Afroozan, Fariba and Bozorgmehr, Bita and Ghanadan, Alireza and Akbaroghli, Susan and Khorshid, Hamid Reza Khorram and Mojahedi, Faezeh and Setoodeh, Aria and Loh, Abigail and Tan, Yu Xuan and Escande-Beillard, Nathalie and Malfait, Fransiska and Reversade, Bruno and Gardeitchik, Thatjana and Morava, Eva},
  issn         = {1422-0067},
  journal      = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
  keywords     = {WRINKLY SKIN SYNDROME,ALTERED GLYCOSYLATION,CONNECTIVE-TISSUE,BRAIN,DYSGENESIS,DEBRE TYPE,MUTATIONS,OSTEODYSPLASTICA,PHENOTYPE,ATP6V0A2,FAMILIES,autosomal recessive cutis laxa 2A,autosomal recessive cutis laxa 2B,geroderma osteodysplastica,Pyrroline-5-carboxylate reductase 1 (PYCR1),ATPase,H plus transporting lysosomal V0 subunit A2 (ATP6V0A2),GOLGIN,RAB6-INTERACTING (GORAB)},
  language     = {eng},
  number       = {3},
  pages        = {16},
  title        = {Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica},
  url          = {http://dx.doi.org/10.3390/ijms18030635},
  volume       = {18},
  year         = {2017},
}

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