Progressive Hyperpigmentation in a Child: An Early Marker of Infantile Tremor Syndrome

Shivi Nijhawan,Divya Yadav,Anviti Gupta,Manisha Nijhawan,Madhu Mathur

doi:10.11648/j.ajp.20210703.25

Abstract

Hyperpigmentary disorders are commonly encountered group of dermatoses in the paediatric age group. One of the most common causes of progressive generalised hyperpigmentation in paediatric population is nutritional vitamin B12 deficiency (NVBD). NVBD can present with a bunch of signs and symptoms like skin hyperpigmentation, pallor and regression of neurodevelopment. We report a case of a plump looking 13 months old, girl child from non-consanguineous marriage of low socioeconomic family who presented with generalised hyperpigmentation, failure to thrive and regression of mile stones. Physical examination revealed anaemia and sparse, thin, lustreless hair with dull, apathetic look. A differential diagnosis of Addison’s disease, hypothyroidism, and neurodegenerative disease, was considered based on clinical suspicion. She was further investigated by a paediatrician. Her blood investigations revealed low levels of Vitamin B12 (159 pg/dl) and haemoglobin (2.6 g/dl). On radiological examination, NCCT brain showed cortical atrophy. A final diagnosis of Infantile Tremor Syndrome (ITS) was made. ITS is a rare condition which presents with cutaneous manifestation like hyperpigmentation, scanty scalp hair along with lethargy, apathy along with signs and symptoms of neurodegeneration. Progressive cutaneous hyperpigmentation in a child can present as early marker of a rare neurodegenerative condition like ITS.

Highlights

Hyperpigmentation can affect children, stemming from a large number of causes
Infantile Tremor Syndrome (ITS) should be considered in any child
Progressive cutaneous hyperpigmentation in a child can present as an early marker of a neurodegenerative condition like ITS

Summary

Introduction

Hyperpigmentation can affect children, stemming from a large number of causes. Cutaneous hyperpigmentation can be classified as congenital or acquired. The affected child presents with pallor, skin and hair changes, dull and apathic look due to compromised nutritional status. They usually have a plum body due to preservation of subcutaneous fat. Natural dark complexion of Indian infants makes it difficult for parents to notice gradual changes in the skin color. This was in contrast to our case, where the child was taken to a local hospital for weakness and lethargy, and after a few months was presented in dermatology opd for progressive darkening of the skin color. On further questioning the parents, a history suggestive of slowing of neurological development was revealed

Case Report

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