title: Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatrics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium. Lieve.Sevenants@uz.kuleuven.ac.be
authors.forename: Lieve
authors.initials: L
authors.lastname: Sevenants
authors.forename: Carine
authors.initials: C
authors.lastname: Wouters
authors.forename: Annachiara
authors.initials: A
authors.lastname: De Sandre-Giovannoli
authors.forename: Hugo
authors.initials: H
authors.lastname: Devlieger
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: Joost J
authors.initials: JJ
authors.lastname: van den Oord
authors.forename: Karel
authors.initials: K
authors.lastname: Marien
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Morren
mesh_terms: D000505:Alopecia / Q000209:etiology; D001706:Biopsy; D003094:Collagen / Q000378:metabolism; D019465:Craniofacial Abnormalities / Q000209:etiology; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000209:etiology; D006621:Hip Joint / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007719:Knee Joint / Q000503:physiopathology*; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D011371:Progeria / Q000175:diagnosis* / Q000235:genetics; D016059:Range of Motion, Articular / Q000502:physiology*; D012594:Scleroderma, Localized / Q000209:etiology*; D012867:Skin / Q000473:pathology
chemical_list: D034904:Lamin Type A; D003094:Collagen
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