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: Flore Zufferey, Smaïl Hadj-Rabia, Annachiara De Sandre-Giovannoli, Jean-Louis Dufier, Bruno Leheup, Cyril Schweitze, Christine Bodemer, Valérie Cormier-Daire, Martine Le Merrer
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 7 Pg. 1786-91 (Jul 2013) ISSN: 1552-4833 [Electronic] United States
• PMID: 23720404 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Wiley Periodicals, Inc.

Chemical References

• COL3A1 protein, human
• Collagen Type III
• LMNA protein, human
• Lamin Type A
• Membrane Proteins
• Metalloendopeptidases
• ZMPSTE24 protein, human

Topics

• Acro-Osteolysis (etiology, genetics)
• Adolescent
• Child
• Collagen Type III (genetics)
• Face (abnormalities)
• Humans
• Keloid (pathology)
• Lamin Type A (genetics)
• Limb Deformities, Congenital (etiology, genetics)
• Male
• Membrane Proteins (genetics)
• Metalloendopeptidases (genetics)
• Progeria (etiology, genetics)
• Prognathism (genetics)
• Young Adult