title: Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.
abstract: We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro-osteolysis, diffuse keloid-like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth. Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. Linear growth is increased and intellectual functions are preserved. Skin retractions and joint contractures progressively developed during adolescence. Death occurred in the second decade in one of the patient due to restrictive respiratory insufficiency and cachexia. LMNA and ZMPSTE24 sequencing were normal. The molecular basis of the disorder remains unknown.
authors.affiliation: Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Flore
authors.initials: F
authors.lastname: Zufferey
authors.forename: Smaïl
authors.initials: S
authors.lastname: Hadj-Rabia
authors.forename: Annachiara
authors.initials: A
authors.lastname: De Sandre-Giovannoli
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dufier
authors.forename: Bruno
authors.initials: B
authors.lastname: Leheup
authors.forename: Cyril
authors.initials: C
authors.lastname: Schweitze
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D030981:Acro-Osteolysis / Q000209:etiology / Q000235:genetics*; D000293:Adolescent; D002648:Child; D024061:Collagen Type III / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D007627:Keloid / Q000473:pathology; D034904:Lamin Type A / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000209:etiology* / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008666:Metalloendopeptidases / Q000235:genetics; D011371:Progeria / Q000209:etiology* / Q000235:genetics; D011378:Prognathism / Q000235:genetics; D055815:Young Adult
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III; C494847:LMNA protein, human; D034904:Lamin Type A; D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human