Scaly Skin, Bowed Bones, and Cloudy Cornea in a 7-Year-Old Child

Sir, A 7-year-old girl was referred from pediatrics for evaluation of cutaneous lesions associated with the bowing of legs. Mother gave a history of red, scaly lesions since birth, with poor gain in weight and height. She noticed negligible sweating with intolerance to sunlight/heat. The child was born out of non-consanguineous marriage by preterm vaginal delivery without a significant family history. At birth, the collodion membrane was present which shed for 1 month, followed by a gradual development of erythroderma with the absence of fluid-filled lesions or mucosal involvement. There was a history of recurrent eye infections. There was a pain in the ankle, knee, and shoulder joints for the past 5 years, with the gradual development of bending of legs with difficulty in walking. There was no history to suggest malabsorption or renal disease. On examination, built and nourishment were poor with a body mass index of 15.2 kg/m2 and a height age of 2 years. Cutaneous examination revealed generalized erythema with coarse scales, dystrophic nails along with a bell-shaped chest, widening of the wrist and ankle joints, and genu varum [Figures 1 and 2]. X-rays of limbs showed marked cupping and fraying of distal metaphyses with coarse trabecular pattern and osteopenia [Figure 2]. On slit-lamp examination, there was ectropion, lagophthalmos, central corneal opacity, thinning with superficial neovascularization in the left eye with positive fluorescein staining of one-third cornea, and corneal epithelial tears in lower one-third of the right eye [Figure 3]. Routine investigations of blood, urine, and stool revealed no abnormality. Further investigations revealed serum calcium – 6.6 mg/dL (8.5–10.2), 25-hydroxy Vitamin D3 – 7.8 ng/mL (normal >20), 24-h urinary calcium – 35 mg/day (100–250), serum alkaline phosphatase – 1192 IU/L (38–126), and parathormone levels – 154 pg/mL (14–72). Diagnosis of congenital nonbullous ichthyosiform erythroderma with sequelae of cicatricial ectropion and rickets was made based on clinical, biochemical, and radiological findings. Genetic testing was not done due to financial constraints.Figure 1: Nonbullous congenital ichthyosiform erythroderma with coarse scales and sparse hair. There is prominent stunting along with genu varum deformityFigure 2: (a) Bell-shaped deformity of the chest with the widening of wrist joints, (b) bowed legs appearance, (c) radiograph of bilateral wrists – AP view showing osteopenia in visualized bones. There is evidence of cupping, splaying, and fraying of ulnar and radial distal metaphyses. AP: Anterior-posteriorFigure 3: (a) Marked ectropion, (b) on torch light examination, there was central corneal opacity, (c) lagophthalmos with lid gap of 5 mm on gently attempted closure, (d) slit-lamp examination showing central corneal opacity and thinning with superficial neovascularization in the left eyeThe child was started on weekly Vitamin D3 (600,000 units) for 10 weeks and oral calcium (1000 mg daily in two divided doses) along with dietary measures. Tropical white soft paraffin for skin and carboxymethylcellulose eye drops with measures to circumvent exposure keratitis were explained. Oculoplasty and orthopedic surgery for correction of bony deformity were planned in liaison. After 2 weeks, there was some improvement in her cutaneous symptoms, general well-being as well as in her gait, whereas ocular status remained the same. However, she went off treatment and presented with aggravation after 5 months [Supplementary Figure 1], which was managed by topical therapy, multidisciplinary care, and family counseling for the importance of regular follow-ups. Retinoids were deferred in view of her progressive ocular opacity.Supplementary Figure 3: Exacerbation after 5 months of initial presentation after going off treatment as increased in the redness and scaling on the face, trunk (a), back (b), and limbs (c). Worsening of ectropion due to increased tautness around the eyes can also be seen (a), with some improvement in her genu varum (c), post calcium and Vitamin D therapyClinically, evident rickets is seen in 35.5% of cases of ichthyosis which is threefold higher than the general prevalence in Indian children.[1] Proposed contributing factors include poor ultraviolet penetration of the skin, limited sun exposure, defective epidermal Vitamin D synthesis, excessive calcium loss in scales, use of retinoids, and pigmented skin types IV-VI.[2,3] A recent review recommended parent education to promote sun exposure, limit exclusive breastfeeding, and prolonged Vitamin D supplementation for rickets prophylaxis.[3] Estimates of ocular complications in ichthyosis are anecdotal; cicatricial ectropion being most common, found in approximately 30% of patients with Lamellar ichthyosis-congenital ichthyosiform erythroderma (LI-CIE) spectrum in a recent study.[4] Management remains conservative. Vertical lid massage and stretching may help delay the progression or recurrence of cicatricial ectropion.[5] Diagnosing ichthyosis is not the end of the road. This case aims to draw the attention of readers to the consequences of not recognizing potentially preventable complications; emphasizing Vitamin D3 supplementation and eye care, which are elaborated in theory but often missed out in practice. Declaration of patient 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.