Fish skin disease and brittle bones

Excerpt

20-year-old South Indian girl presented to us with generalized body pain and stooping posture, and examination revealed dry, small, and branny scales consistent with ichthyosis vulgaris (Photograph 1 and 2). Investigation showed hypocalcemia (8 mg/dl), low phosphorus (2.1 mg/dl), elevated alkaline phosphatase (1,024 IU/l low vitamin D (9 ng/ml), and elevated parathyroid hormone level (pg/ml), and X-ray (1 and 2) showed generalized osteoporosis, osteoporotic fractures, and looser zone consistent with diagnosis of osteomalacia. Ichthyosis vulgaris also called fish skin disease is an autosomal dominant inherited skin disorder in which dead skin cells accumulate in thick, dry scales on skin’s surface. Osteomalacia is the softening of the bones due to impaired mineralization of bone matrix proteins secondary to inadequate amounts of available phosphorus and calcium which is also known as brittle bone disease. PubMed search revealed only one case series of congenital ichthyosis and vitamin D deficiency [1‐3]. and …