Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.

A Sri Lankan male child with supraorbital hyperostosis, broad nasal bridge, small mandible, severe kyphoscoliosis, distal joint contractures of the hands and long second and third toes is described. A hemizygous pathogenic variant in exon 22 of the filamin A (FLNA) gene [NM_001110556.1: c.3557C>T; which leads to a nonsynonymous substitution of serine by leucine at codon 1186 in the FLNA protein; NP_001104026.1: p.Ser1186Leu] was identified. The clinical features observed in this patient were consistent with the cardinal manifestations seen in frontometaphyseal dysplasia 1 (FMD1). However, characteristic extra skeletal manifestations such as cardiac defects, uropathy, and hearing impairment which have previously been reported in association with this condition were absent in this patient.

Calcified Leiomyoma of the Distal Forearm in a Child: A Case Report and Review of Literature.

BACKGROUND: Deep somatic leiomyomas arising in skeletal muscle are extremely rare in children, especially in the extremities. Around half of them show calcifications. We present a rare case of a calcified leiomyoma of the distal forearm in a child. Case Summary. A seven-year-old boy presented with right distal forearm and wrist pain with restricted supination for 4 years. X-ray showed ring and arc calcifications in the distal forearm at the interosseous area. MRI also confirmed a well-defined soft tissue lesion with areas of calcifications. A diagnosis of a cartilage-forming lesion or a peripheral nerve sheath tumour was suggested. The lesion was completely excised. Histology showed a lesion composed of intersecting fascicles of spindle cells with stromal calcification having immunohistochemical features of a leiomyoma. CONCLUSION: Although soft tissue calcifications can be seen in a plethora of conditions seen in daily orthopaedic practise, a high index of suspicion should be maintained for rare conditions like deep somatic leiomyoma.