Ichthyosis Associated with Rickets in Two Indian Children
An 8-year-old boy born of non-consanguineous marriage was brought with thick, dark skin lesions all over the body since 1.5 months of age and inability to walk since the past 5 months. The mother gave history of multiple fluid-filled lesions over the bilateral thighs at birth, which ruptured to heal with thickening and scaling of skin. This process continued to occur all over the body till the age of 7 years. There was history of fracture of the left forearm, followed by that of the right forearm 1 year back, causing deformities of both upper extremities. There was no history of similar complaints in other family members.\nCutaneous examination revealed generalized hyperkeratotic, verrucous and velvety plaques all over the body with predominant involvement of the axillae, wrists, buttocks and popliteal fossae []. There was relative sparing of the face and complete sparing of the palms and soles. Mucosae, hair, teeth and nails were normal. Bony examination revealed mild left-sided scoliosis and deformity of the left hand. There was a bowline deformity of the right forearm and bowing of both the legs.\nBlood investigations including complete hemogram, renal function tests and liver function tests inclusive of serum proteins were within normal limits. Serum calcium (7.2 mg/dL) and 25-OH vitamin D3 (11.3 ng/mL) levels were low, whereas serum alkaline phosphatase level (1396.80 IU/L) was markedly high. Ultrasonography of the abdomen and pelvis was normal. X-ray of the limbs showed marked cupping and fraying of the distal metaphyses with coarse tubercular pattern and osteopenia. There was bilateral pseudo-fracture of the ulna, radius and tibia along with malunion of the radius, ulna and bowing of tibia []. Skin biopsy showed features of epidermolytic hyperkeratosis [].\nOn the basis of clinicopathologic correlation, the diagnosis of epidermolytic hyperkeratosis associated with active nutritional rickets was reached.