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01.12.2014 | Case report | Ausgabe 1/2014 Open Access

Journal of Medical Case Reports 1/2014

Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2014
Autoren:
Malene Trägårdh, Christine Rohr Thomsen, Rikke Thorninger, Bjarne Møller-Madsen
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-8-156) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

MT, CA and RT were major contributors in writing the manuscript. BMM mainly contributed to supervision and editing of the manuscript. All authors read and approved the final manuscript.

Abstract

Introduction

Hypomelanosis of Ito was originally described as a purely cutaneous disease. Extracutaneous manifestations were described later, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system symptoms.
Hypomelanosis of Ito is characterized by a depigmentation along the lines of Blaschko on the trunk and extremities in certain patterns.
The aim of this article was to report another case and give an overview of the related orthopedic symptoms that have been previously described. It was also our wish to contribute with recommendations for consideration with regard to bandages on eczematous rashes, especially on clubfeet.

Case presentation

A one-and-a-half-month-old boy of Caucasian background born with talipes equinovarus, or clubfoot, on his right foot presented with an eczematous rash after surgical correction and plaster bandaging.

Conclusions

It is the appearance of hypopigmentation, either alone or in combination with a congenital malformation, particularly central nervous system or musculoskeletal anomalies, which should form the basis of a presumptive diagnosis. This should then lead to further investigations and should always include skin biopsies and a test for chromosomal mosaicism.
We report the case of a boy with a clinical picture consisting of a depigmented skin pattern, mental retardation, pes cavus, talipes equinovarus, clinodactyly, eczema, inverted cilia of the eye, strabismus, reduced hearing, ventral hernia, glomerulonephritis, missing testicles, leg length discrepancy with scoliosis, back pain and a syrinx.
It is perhaps impossible to make any conclusions about extracutaneous symptoms. However, some symptoms such as retardation, cramps and seizures, delayed development and hypotonia cannot be ignored.
Because of the possibility of creating an undesirable and long postoperative period with complications, it is very important to have this diagnosis in mind when deciding to do surgery or not if there are signs of dermatological problems before surgery. In this case, it could also be good clinical practice to test the patient’s reaction to plaster or other bandages.

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Zusatzmaterial
Authors’ original file for figure 1
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Authors’ original file for figure 2
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Authors’ original file for figure 6
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Authors’ original file for figure 7
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Authors’ original file for figure 8
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