CHILD syndrome: A rare case report
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CHILD syndrome is a rare unilateral icthyosiform naevus, characterized by congenital hemidysplasia with icthyosiform erythroderma and limb defect. It is inherited as X- linked dominant trait with lethality for the male embryo.

A 9-year-old girl, the first child of a nonconsanguineous marriage, delivered full term by the vaginal route presented with limb defects involving the right side of the body. Within a few days of birth, she developed erythematous scaly lesion over the right groin. It then gradually progressed to involve the right neck, axilla, and popliteal fossa within a few months. She received topical preparations intermittently and lesion partially resolved with hyperpigmentation. Because of lower limb asymmetry, walking was very difficult and developed contractures of both lower limbs. No history of similar skin and limb abnormalities was in either parents or siblings. Cutaneous examination revealed multiple patchy sharply demarcated, erythematous, hyperkeratotic, scaly plaques on the right side of the neck, axilla, buttock, popliteal fossa, groin, and hand and foot including interdigital spaces. Nail plates were dystrophic. Rest skin and mucosal examination were normal.

Roentgenograms of extremities showed dislocation of the right femur head as well as a contracture of the right foot. Acro-osteolysis and contracture of distal phalanx of the right hand were also evident. Histopathological examination of cutaneous lesion revealed hyperkeratosis, parakeratosis, hypergranulosis, irregular elongation of rete ridges, and mild perivascular mononuclear inflammatory cell infiltration.

Based on clinical and histological findings, the final diagnosis of CHILD syndrome was made. The child was managed with oral methotrexate, topical corticosteroid, and emollients for skin lesions and she is on regular follow-up. The patient was advised to consult orthopedician for lower limb abnormality.

In conclusion “CHILD” applies to only the extreme (hemidysplastic) form of a rare condition, and this prompted us to report the case. The diagnosis of the syndrome is important for patient information and genetic counseling. Pathogenesis-based therapy is likely to bring hope to the patients of CHILD syndrome.

Source: http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=2;spage=132;epage=134;aulast=Mehta
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