Case Report
A 4-year-old girl presented with rash on her face that was noticed by her mother since 1 month following birth. She was 3rdof the 5 children born at full term via normal vaginal delivery at home to consanguineous parents. Initially, the mother noticed erythematous macules and plaques on bilateral cheek that gradually developed areas of hypopigmentation and telangiectasia within 6 months (Fig 1a). Lesions with similar morphology and progression appeared to involve shoulder (Fig 1b) followed by V-area of neck after a year that was aggravated on exposure to sunlight. There was no history of hair loss, recurrent respiratory infection, oral ulcer, feeding problems, dental, ocular or neurological symptoms. On family history (as presented by pedigree in Fig 2) there was demise of a 4th child at birth and history of similar skin lesion on 8 months old 5thchild who developed the lesions at 2 months following birth (Fig. 1a).
On cutaneous examination, there were multiple ill-defined erythematous plaques on bilateral cheek, dorsum of nose, V-area of neck and right shoulder with areas of dyspigmentation, atrophy and telangiectasia. Height of the child was less than 3rd percentile for age and weight was at 10th percentile for age (as per WHO growth chart). There was no abnormalities detected on systemic examination. Baseline complete blood count, Anti-nuclear antibody, Comprehensive metabolic panel and X-ray of bilateral hand was normal. Karyotype analysis and gene sequencing was not done due to unavailability. RTS was diagnosed, and the patient was advised for sun-protective behaviors and annual evaluation for the eyes, skin and bone.