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

Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava-Kozicz

Research output: Contribution to journalReview article

6 Citations (Scopus)

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.

Original languageEnglish (US)
Article number635
JournalInternational Journal of Molecular Sciences
Volume18
Issue number3
DOIs
StatePublished - Mar 15 2017
Externally publishedYes

Fingerprint

Cutis Laxa
hypotonia
cognition
cataracts
wrinkling
Skin
Bone
phenotype
Genes
borders
genes
Athetosis
bones
Foot Bones
ridges
Lipodystrophy
Congenital Hip Dislocation
Lacrimal Apparatus
X-Linked Genes
Spontaneous Fractures

Keywords

  • ATPase
  • Autosomal recessive cutis laxa 2A
  • Autosomal recessive cutis laxa 2B
  • Geroderma osteodysplastica
  • GOLGIN
  • H+ transporting lysosomal V0 subunit A2 (ATP6V0A2)
  • Pyrroline-5-carboxylate reductase 1 (PYCR1)
  • RAB6-INTERACTING (GORAB)

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

Cite this

Discriminative features in three autosomal recessive cutis laxa syndromes : Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. / Kariminejad, Ariana; Afroozan, Fariba; Bozorgmehr, Bita; Ghanadan, Alireza; Akbaroghli, Susan; Khorshid, Hamid Reza Khorram; Mojahedi, Faezeh; Setoodeh, Aria; Loh, Abigail; Tan, Yu Xuan; Escande-Beillard, Nathalie; Malfait, Fransiska; Reversade, Bruno; Gardeitchik, Thatjana; Morava-Kozicz, Eva.

In: International Journal of Molecular Sciences, Vol. 18, No. 3, 635, 15.03.2017.

Research output: Contribution to journalReview article

Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, HRK, Mojahedi, F, Setoodeh, A, Loh, A, Tan, YX, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T & Morava-Kozicz, 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, vol. 18, no. 3, 635. https://doi.org/10.3390/ijms18030635
Kariminejad, Ariana ; Afroozan, Fariba ; Bozorgmehr, Bita ; Ghanadan, Alireza ; Akbaroghli, Susan ; Khorshid, Hamid Reza Khorram ; Mojahedi, Faezeh ; Setoodeh, Aria ; Loh, Abigail ; Tan, Yu Xuan ; Escande-Beillard, Nathalie ; Malfait, Fransiska ; Reversade, Bruno ; Gardeitchik, Thatjana ; Morava-Kozicz, Eva. / Discriminative features in three autosomal recessive cutis laxa syndromes : Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. In: International Journal of Molecular Sciences. 2017 ; Vol. 18, No. 3.
@article{eecb77988e8b4374898a1181e16ae660,
title = "Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica",
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 = "ATPase, Autosomal recessive cutis laxa 2A, Autosomal recessive cutis laxa 2B, Geroderma osteodysplastica, GOLGIN, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2), Pyrroline-5-carboxylate reductase 1 (PYCR1), RAB6-INTERACTING (GORAB)",
author = "Ariana Kariminejad and Fariba Afroozan and Bita Bozorgmehr and Alireza Ghanadan and Susan Akbaroghli and Khorshid, {Hamid Reza Khorram} and Faezeh Mojahedi and Aria Setoodeh and Abigail Loh and Tan, {Yu Xuan} and Nathalie Escande-Beillard and Fransiska Malfait and Bruno Reversade and Thatjana Gardeitchik and Eva Morava-Kozicz",
year = "2017",
month = "3",
day = "15",
doi = "10.3390/ijms18030635",
language = "English (US)",
volume = "18",
journal = "International Journal of Molecular Sciences",
issn = "1661-6596",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "3",

}

TY - JOUR

T1 - Discriminative features in three autosomal recessive cutis laxa syndromes

T2 - Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica

AU - Kariminejad, Ariana

AU - Afroozan, Fariba

AU - Bozorgmehr, Bita

AU - Ghanadan, Alireza

AU - Akbaroghli, Susan

AU - Khorshid, Hamid Reza Khorram

AU - Mojahedi, Faezeh

AU - Setoodeh, Aria

AU - Loh, Abigail

AU - Tan, Yu Xuan

AU - Escande-Beillard, Nathalie

AU - Malfait, Fransiska

AU - Reversade, Bruno

AU - Gardeitchik, Thatjana

AU - Morava-Kozicz, Eva

PY - 2017/3/15

Y1 - 2017/3/15

N2 - 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.

AB - 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.

KW - ATPase

KW - Autosomal recessive cutis laxa 2A

KW - Autosomal recessive cutis laxa 2B

KW - Geroderma osteodysplastica

KW - GOLGIN

KW - H+ transporting lysosomal V0 subunit A2 (ATP6V0A2)

KW - Pyrroline-5-carboxylate reductase 1 (PYCR1)

KW - RAB6-INTERACTING (GORAB)

UR - http://www.scopus.com/inward/record.url?scp=85015717740&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85015717740&partnerID=8YFLogxK

U2 - 10.3390/ijms18030635

DO - 10.3390/ijms18030635

M3 - Review article

C2 - 28294978

AN - SCOPUS:85015717740

VL - 18

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

SN - 1661-6596

IS - 3

M1 - 635

ER -