Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
| Autor: | Nathalie Escande-Beillard, Fariba Afroozan, Abigail Loh, Eva Morava, Yu Xuan Tan, Ariana Kariminejad, Bita Bozorgmehr, Bruno Reversade, Faezeh Mojahedi, Fransiska Malfait, Hamid Reza Khorram Khorshid, Aria Setoodeh, Thatjana Gardeitchik, Alireza Ghanadan, Susan Akbaroghli |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Pathology Review Gerodermia osteodysplastica FAMILIES Cutis Laxa lcsh:Chemistry Normal cognition Medicine and Health Sciences RAB6-INTERACTING (GORAB) GOLGIN RAB6-INTERACTING (GORAB) ALTERED GLYCOSYLATION BRAIN Child lcsh:QH301-705.5 Spectroscopy Long philtrum Skin Diseases Genetic Syndrome General Medicine DEBRE TYPE Hypotonia Computer Science Applications Phenotype Pyrroline-5-carboxylate reductase 1 (PYCR1) Child Preschool OSTEODYSPLASTICA Female Bone Diseases medicine.symptom ATP6V0A2 Adult medicine.medical_specialty Maxillary hypoplasia H plus transporting lysosomal V0 subunit A2 (ATP6V0A2) WRINKLY SKIN SYNDROME Dwarfism Short stature Catalysis Diagnosis Differential Inorganic Chemistry 03 medical and health sciences medicine ATPase Humans Physical and Theoretical Chemistry Molecular Biology Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] MUTATIONS business.industry Organic Chemistry Biology and Life Sciences Infant medicine.disease GOLGIN Dermatology CONNECTIVE-TISSUE 030104 developmental biology lcsh:Biology (General) lcsh:QD1-999 geroderma osteodysplastica autosomal recessive cutis laxa 2A ATPase H+ transporting lysosomal V0 subunit A2 (ATP6V0A2) Wormian bones autosomal recessive cutis laxa 2B business DYSGENESIS Cutis laxa |
| Zdroj: | International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017) International Journal of Molecular Sciences INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES International Journal of Molecular Sciences, 18, 635-635 International Journal of Molecular Sciences, 18, 3, pp. 635-635 |
| ISSN: | 1422-0067 |
| Popis: | 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. ispartof: International Journal of Molecular Sciences vol:18 issue:3 ispartof: location:Switzerland status: published |
| Databáze: | OpenAIRE |
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