Bullous Congenital Ichthyosiform Erythroderma with Severe Vitamin D Deficiency Rickets: A Rare Association

Madam, A 15-year-old boy presented to the dermatology outpatient department with multiple bony deformities and severe scaling all over the body. At birth, the parents noted collodion membrane and increased peeling of skin which gradually progressed to involve the entire body with periodic shedding of scales. Few blisters developed after 1 year which resolved spontaneously to leave behind erosions. As soon as the child started walking, he developed joint pains and deformities over the legs, hands, and spine with increased proneness to fractures. The child had ichthyosis all over the body with large dirty brown scales [Figure 1], along with kyphoscoliosis and bowing of long bones of all four limbs. X-ray of long bones of the legs showed cupping, fraying, and expanded metaphyseal ends with marked osteopenia [Figure 2]. His vitamin D level was 8 ng/mL. Based on this, a diagnosis of bullous congenital ichthyosiform erythroderma (BCIE) with Vitamin D deficiency rickets was made.Figure 1: A 15-year-old boy with generalized ichthyosis and severe bony deformities of long bonesFigure 2: X-ray of long bones showing cupping and fraying of ends suggestive of ricketsBCIE is a rare autosomal dominant disorder due to mutations in Keratin (KRT) 1 and 10.[1] Patients show blistering, generalized erythema, and superficial erosions which leave behind generalized scaling. Various postulated mechanisms for vitamin D deficiency in these patients[2–5] are: avoidance of sun exposure, excessive loss of cutaneous calcium,[3–5] hyperkeratosis, and melanin, which prevent ultraviolet B from penetrating into the skin, low calcium and vitamin D intake in Indian children, and use of retinoids which reduce vitamin D absorption from the gut. Table 1 summarizes the case reports documenting an association between congenital ichthyosis and rickets.Table 1: Case reports documenting an association of congenital ichthyosis and ricketsThe association of BCIE with severe vitamin D deficiency is rare but should be specifically looked for, as there is a high prevalence of vitamin D deficiency in the Indian subcontinent and due to a furthermore increased predisposition among patients of ichthyosis. Vitamin D deficiency leading to rickets is potentially treatable and can prevent the development of complications if diagnosed and treated early. Declaration of consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.