Related Experiment Video
Updated: Oct 13, 2025

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report
Siddhartha Sinha1, Amit Sharma2, Sumit Gupta1
1Department of Orthopaedics, Hamdard Institute of Medical Sciences and Research, New Delhi, India.
Introduction:
Ichthyosis is a group of disorders typically characterized by the accumulation of large scales over the skin. Mild bony deformities due to Vitamin D deficiency are commonly associated with this group of disorders which can be successfully treated with conventional Vitamin D supplementation. Severe multiple bony deformities requiring surgical correction are rarely reported and may be associated with various other disorders.
Case Report:
We report a case of a 15-year-old male with ichthyosis, short stature, and progressive multiple bony deformities since birth. The child was started on Vitamin D3 supplementation. Once biochemical parameters improved he underwent multiple corrective osteotomies in the bilateral tibia and right femur to improve gait mechanics. Our main concerns while managing the patient were regarding wound healing, secondary infection due to extensive scaling and healing at the osteotomy site. On follow-up we noted good healing at the osteotomy site without any surgical site infection or skin complications as well as improvement in gait mechanics and cosmesis.
Conclusion:
Severe bony deformities due to Vitamin D deficient are rare in ichthyosis and other syndromic causes should be ruled out. Surgical management can be beneficial in improving quality of life and gait biomechanics.
Related Concept Videos
Classification of Bones
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Growth of Cartilage and Bone Tissue
Pleiotropy

