Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report
نویسندگان
چکیده
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.
منابع مشابه
A Case Study of Hypomelanosis of Ito
Among nevoid causes of hypopigmentations; incontinentia pigmenti achromians (Hypomelanosis of Ito) is a neurocutaneous syndromes characterized by distinctive macular, linear or irregular whorls or swirls of Hypopigmentations. Unrelated to incontinentia pigmenti, the loss of pigment begins spontaneously during infancy or early childhood and is of Particular importance because of the falt that m...
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INTRODUCTION Hypomelanosis of Ito is a rare neurocutaneous disorder, characterized by streaks and swirls of hypopigmentation following the lines of Blaschko that may be associated to systemic abnormalities involving the central nervous system and musculoskeletal system. Despite the preponderance of reported sporadic hypomelanosis of Ito, few reports of familial hypomelanosis of Ito have been de...
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PURPOSE To describe a case of a child with a known history of pigmentary mosaicism suggestive of Hypomelanosis of Ito presenting with unilateral leukocoria, who was ultimately diagnosed with retinoblastoma. METHODS A report of a 16-month-old girl with pigmentary mosaicism and unilateral retinoblastoma. RESULTS A previously healthy 16-month-old girl with a diagnosis of a mosaic hypopigmentat...
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Del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatric Dermatol 1992; 9: 1–10 2. David TJ. Hypomelanosis of Ito: a neurocutaneous syndrome. Arch Dis Child 1981; 56: 798–800 3. Coward RJM, Risdon RA, Bingham C, Hattersley AT, Woolf AS. Kidney disease in hypomelanosis of Ito. Nephrol Dial Transplant 2001; 16: 1267–1269 4. Chevalier C, Colon S, Faraj G, Bouvier...
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Hypomelanosis of Ito (HI) though said to be the thirdmost common neurocutaneus disorder, is rarely reported in paediatric practice in Africa. A high index of suspicion must be maintained in children with cutaneous lesions as a seizure may be the first symptom that may bring the child to attention. A case of HI in a neonate is hereby reported to sensitize clinicians about this relatively uncommo...
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