| Affiliation: | (1) Department of Paediatrics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium;(2) Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France;(3) Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium;(4) Department of Pathology, University Hospital Leuven, Leuven, Belgium;(5) Department of Dermatology, University Hospital Leuven, Leuven, Belgium |
| Abstract: | We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C>T (G608G) mutation. Conclusion:Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation. |
