title: Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
abstract: We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid valve prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. Mutation analysis of FBLN5 showed a homozygous c.432C>G missense mutation, and heterozygosity in the parents. This is predicted to cause amino acid substitution p.Cys144Trp. Conjunctivochalasis or redundant folds of conjunctiva and obstructed nasolacrimal ducts have not been reported to be associated with FBLN5 mutations. Histopathological study of the conjunctival biopsy showed that most blood vessels had normal elastic fibers. The gingiva appeared normal, but histologically elastic fibers were defective. Scanning electron micrography of scalp hair demonstrated hypoplastic hair follicles. The cuticles appear intact underneath the filamentous meshwork.
authors: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Dentaland Clinic, Chiang Mai, Thailand.
authors: Piranit Nik
authors: PN
authors: Kantaputra
authors: Massupa
authors: M
authors: Kaewgahya
authors: Atchareeya
authors: A
authors: Wiwatwongwana
authors: Damrong
authors: D
authors: Wiwatwongwana
authors: Rekwan
authors: R
authors: Sittiwangkul
authors: Anak
authors: A
authors: Iamaroon
authors: Prapai
authors: P
authors: Dejkhamron
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003228:Conjunctiva / Q000002:abnormalities* / Q000473:pathology; D003483:Cutis Laxa / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D009301:Nasolacrimal Duct / Q000002:abnormalities* / Q000473:pathology; D011656:Pulmonary Emphysema / Q000150:complications* / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed
chemical_list: D016326:Extracellular Matrix Proteins; C492373:FBLN5 protein, human
keywords: abnormal cuticle; abnormal hair; abnormal heart valve; elastic fiber; gingiva; hair follicle; hypoplastic maxilla; mitral and tricuspid valve prolapse; redundant conjunctiva