Skeletal muscle involvement in infantile systemic hyalinosis.
Infantile Systemic Hyalinosis is a rare autosomal recessive entity, characterised by deposition of hyaline material in skin and bone, often complicated by visceral involvement. The characteristic features are marked delay in motor milestones attributed to severe progressive flexion contractures of proximal and distal joints, and skin and mucosal hypertrophy and thickening, followed by failure to thrive. Pain secondary to osteolytic lesions is also a predominant feature. We report a patient with Infantile Systemic Hyalinosis, confirmed by the clinical findings, who also displayed clear evidence of proximal muscle weakness. Muscle biopsy revealed myopathic changes, which have not been reported previously. We suggest that skeletal muscle is involved in Infantile Systemic Hyalinosis and contributes to the characteristic poor outcome of these patients.
Zolkipli
Zarazuela
Z
Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammesmith Hospital, Imperial College London, London W12 0NN, UK.
Longman
Cheryl
C
Brown
Sue
S
Rahman
Nazneen
N
Holder
S E
SE
Muntoni
Francesco
F
D000483:Alleles; D001707:Biopsy, Needle; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003241:Consanguinity; D003286:Contracture / Q000235:genetics* / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005183:Failure to Thrive / Q000235:genetics* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D018908:Muscle Weakness / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology