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Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
Author(s) -
Zufferey Flore,
HadjRabia Smaïl,
De SandreGiovannoli Annachiara,
Dufier JeanLouis,
Leheup Bruno,
Schweitze Cyril,
Bodemer Christine,
CormierDaire Valérie,
Le Merrer Martine
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35984
Subject(s) - medicine , palpebral fissure , dermatology , pathology , anatomy
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. © 2013 Wiley Periodicals, Inc.