Bloom's syndrome--a first report from India

A 6‐year‐old boy presented with complaints of redness and scarring over the face to the outpatient clinic of the Dermatology Department of Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India. The child was apparently normal until the age of 6 months when his mother noticed an erythematous eruption with small blisters and mild discomfort over the face on exposure to sunlight. Gradually, the eruption became more progressive, extending to the forehead, nose, and ears with the development of oozing, crusting, atrophy, and telangiectasias over the face, despite treatment. Over the last 3 months, he had developed ulceration of the skin over the right cheek just below the lower eyelid without any signs of healing. No history suggestive of constitutional symptoms, bowel and bladder complaints, Raynaud's phenomenon, alopecia, discoloration of urine on standing, and chronic systemic or cutaneous infections could be obtained. The patient is a product of a full‐term pregnancy with normal vaginal delivery of nonconsanguineous parents. His developmental milestones were delayed, with sitting at 2.5 years and standing and speech at 3 years. Our patient is a Hindu by religion and Rajput by caste. India is a vast land mass, bounded by the Himalayan mountains to the north‐west, lush green forests to the east, and the scenic Kashmir valley to the north; the land tapers into the Indian Ocean at the southern peninsula where the Bay of Bengal and Arabian Sea meet. India is a republic consisting of different states and union‐territories with Christians, Hindus, Muslims, Sikhs, and people from other religions. Among the Hindus, several castes exist, such as ‘‘Brahmins,’' ‘‘Kshatriyas’' (Rajputs–‐the warrior clan), ‘‘Vaishyas,’' and ‘‘Shudras,’' classified according to their profession from ancient times. The parents of our patient had migrated from the Multan region of Pakistan back to India at the time of partition, and are presently residing in the hilly region of Uttar Pradesh ( Fig. 1). There was no history of consanguinity in the family members presented in the pedigree chart ( Fig. 2). 1 Political map of India showing the neighboring countries, location of the patient's home in the state of Uttar Pradesh (U.P), and Multan from where the parents of the patient had migrated 2 Pedigree chart of the BS child The patient's father (39 years) and mother (35 years) were apparently normal and had four children. The eldest child is a normal 14‐year‐old girl. The seco