Extensive Mongolian spots in a healthy child

Mongolian spots (MS) are solitary or numerous, irregularly shaped non-blanching macules to patches with varying shades of blue-green, gray, or blue-black discoloration [1, 2]. MS are usually transient and arise from the physiological developmental processes in the skin [3]. They are either present at birth or appear within the first few weeks of life. The most common site is the sacral-gluteal region [4]. They measure few millimeters to less than 10 cm in size. Although they are usually benign in character, they can cause significant anxiety for both parents and doctors due to their unusual appearance, unexpected location and number. They usually fade during first few years of life. MS with persistence beyond their physiological duration, increased number, atypical pigmentation, larger size, and their presence in the extra-sacral region have been found to be associated with fatal disorders of inherited inborn errors of metabolism (IEM) [1–5]. Herein, we are presenting the case of extensive MS in a 15-month-old female child.
A 15-month-old female child born of parents of South Asian ethnicity, was brought to the skin outpatient clinic with extensive bluish-black discoloration over chest, back and both thighs since birth. On cutaneous examination, the child had diffuse, irregularly bordered flat patches of grayish-blue discoloration over the abdomen but sparing the peri-umbilical area (fig. 1). Similar pigmentation was present over the back except the scapular regions (fig. 2). The pigmentation was persistent and not showing any change with age. The head, neck, eyes, external ear, and genitals did not show any abnormal looking skin pigmentation. Examination of the mucosae revealed no abnormalities. Overall, 60% of the body area was covered with the lesions. Based on morphology and clinical characteristics, the extensive MSwere considered as the most probable diagnosis. A complete clinical evaluation including laboratory tests was carried out in view of its association with IEM. Vital parameters were within normal limits. She had normal length and weight for her age. The child was well alert to visual, vocal, and sensory stimuli. Developmental milestones were reached according to the age. Parents reported normal feeding and according to patterns. Shape/symmetry of the chest and abdomen was normal. There was no abnormal finding on palpation of the abdomen. A complete hematological, biochemical and radiological skeletal survey, ultrasound of the...


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