A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years

Premature aging syndrome, Penttinen type (Penttinen syndrome) is a progeroid syndrome with facial alterations (thin hair and progressive recession of the maxillozygomatic bones with pseudoprognathism), skin abnormalities (scleroderma with epidermal and dermal atrophy, lipoatrophy, chronic ulcers, and keloid-like hypertrophic lesions), corneal changes (vascularization and opacity), cerebral vascular anomalies, and acroosteolysis. This syndrome is caused by heterozygous, gain-of-function pathogenic variants in the PDGFRB gene. Only 10 affected individuals have been reported to date, and thus the phenotypic spectrum of the disorder, particularly in early childhood, remains elusive. We reported here the clinical course of an affected male from early childhood to young adulthood. Thin limbs and short fingers attracted medical attention at age 3 years, at which time he had already developed maxillary hypoplasia, keloids, and acroosteolysis, all of which progressively worsened with age. Joint contractures and scoliosis became apparent during adolescence. Progressive maxillary recession and scleroderma remarkably altered his facial gestalt over time, including the development of exophthalmos, small auricles, short philtrum, and small mouth. Sanger sequencing identified a recurrent, de novo pathogenic variant in the PDGFRB gene (c.1994T > C, p.Val665Ala). This report on the clinical course through childhood provides additional insight into the natural history of Penttinen syndrome.