Ichthyosis associated with rickets in two Indian children.

Area of Science:

• Dermatology
• Pediatrics
• Endocrinology

Background:

• Ichthyosis encompasses a group of genetic skin disorders characterized by abnormal keratinization.
• Vitamin D deficiency is a common concern, particularly in individuals with limited sun exposure or impaired skin barrier function.
• Rickets, a condition of bone softening, can result from severe vitamin D deficiency.

Purpose of the Study:

• To report two cases of rickets secondary to vitamin D deficiency in pediatric patients with distinct forms of ichthyosis.
• To highlight the link between ichthyotic skin disorders and the risk of developing vitamin D deficiency rickets.
• To describe the treatment approach and outcomes in these cases.

Main Methods:

• Case report of an 8-year-old male with epidermolytic hyperkeratosis and a 14-year-old female with lamellar ichthyosis.
• Clinical evaluation for rickets symptoms and vitamin D deficiency.
• Treatment included parenteral vitamin D3, oral calcium supplements, and topical emollients.

Main Results:

• Both pediatric patients presented with symptoms consistent with rickets due to vitamin D deficiency.
• The patients showed significant clinical improvement following treatment with vitamin D3, calcium, and emollients.
• The underlying ichthyotic skin disorders were managed concurrently with topical therapy.

Conclusions:

• Ichthyotic skin disorders can predispose children to vitamin D deficiency rickets due to impaired vitamin D synthesis or absorption.
• Parenteral vitamin D3 supplementation, oral calcium, and emollients are effective in managing rickets in this patient population.
• Early recognition and management are crucial for preventing long-term skeletal complications.