Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.
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.
Sevenants
Lieve
L
Department of Paediatrics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium. Lieve.Sevenants@uz.kuleuven.ac.be
Wouters
Carine
C
De Sandre-Giovannoli
Annachiara
A
Devlieger
Hugo
H
Devriendt
Koen
K
van den Oord
Joost J
JJ
Marien
Karel
K
Lévy
Nicolas
N
Morren
Marie-Anne
MA
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
D034904:Lamin Type A; D003094:Collagen
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