Ichthyosis Associated with Rickets in Two Indian Children
A 14-year-old girl born of non-consanguineous marriage presented with thick, dark skin lesions since birth and pain in both knee joints since the past 4 years. She also had deformities of both the knees with difficulty in getting up from squatting position since the last 3 years. A history of collodion membrane at birth, followed by its spontaneous shedding a few days later, was elicited. This was followed by appearance of thick large scales all over the body, which was associated with periodic shedding. There was history of similar skin findings in the younger 11-year-old male sibling without any skeletal signs and symptoms. The mother also gave a history of avoidance of going out of the house during daytime due to social embarrassment and heat intolerance.\nOn cutaneous examination, there was diffuse thickening and hyperpigmentation of the skin with thick, large, quadrilateral scales that were free at the edges and adherent in the center. The lesions were distributed over the extremities and the back []. Hyperkeratosis of palms and soles was seen. Hair, teeth, nails and mucosa were un-involved. Bilateral genu valgum [], wrist widening, double malleoli and rachitic rosary were noted.\nBlood investigations including complete hemogram, renal function tests and liver function tests, inclusive of serum proteins, were within normal limits. Serum calcium (7.79 mg/dL) and 25-OH vitamin D3 were low (12.25 ng/mL), whereas serum alkaline phosphatase (3090.00 IU/L) and parathyroid hormone levels (530.0 pg/mL) were significantly raised. X-rays of the limbs showed marked cupping and fraying of distal metaphyses with coarse trabecular pattern, osteopenia, pseudo-fracture of bilateral ulna, radius and tibia along with bowing of both the tibia []. Skin biopsy showed compact ortho-hyperkeratosis with focal parakeratosis, normal granular layer, papillomatosis and mild perivascular lymphocytic infiltrate in papillary dermis [].\nOn the basis of clinical features and investigations, a diagnosis of lamellar ichthyosis with active nutritional rickets was reached in the second case.\nRickets was treated in both these cases with parenteral vitamin D3, 6 lac IU single dose and 1500 mg of oral calcium daily for 1 month, showing gradual clinical improvement like reduction in joint pain and performance of activities of daily living. Serum calcium (8.8 mg/dL) and alkaline phosphatase (564 IU/L) improved over a period of 2 months in the first case, whereas serum calcium (8.43 mg/dL) and alkaline phosphatase (1480 IU/L) improved within 1 month in the second. Both the cases are currently orally taking 400 IU of vitamin D3 along with 500 mg of calcium salt daily.\nFor the treatment of ichthyosis, the first case was started on capsule isotretinoin 10 mg daily for 6 months, followed by 15 mg daily for 4 months for the underlying skin condition. Topically, 3% salicylic acid, white soft paraffin and liquid paraffin were applied daily.\nIn view of thin scales, the second patient was treated with only topical application of liquid paraffin and white soft paraffin with evidence of partial improvement in skin condition over the next 2 months.