Fallbericht über das Ito-Syndrom mit angeborener Hemihypertrophie aus orthopädischer Sicht

Gärtner, Carina; Sabo, Desiderius

doi:10.1055/s-2005-918207

Cited by 2 publications

(3 citation statements)

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“…Seizures have been widely reported in the setting of patients with pigmentary mosaicism of the Ito type or (more often) in HI. 5,6,8,11–16,26–28 As previously reported, 11,15,26,28,29 the spectrum of epileptic seizures present with heterogeneous semiology, ranging from generalized seizures well controlled by antiepileptic drugs to severe (most often partial, myoclonic or atonic) epileptic syndromes which are often drug-resistant. Interestingly, most HOG patients fell into the syndromic mosaic pigmentary phenotype (ie, HI).…”

Section: Discussionmentioning

confidence: 75%

“…Surgical treatment of HOG is not advisable, except in cases of wide and disturbing asymmetry. Gärtner and Sabo 29 through a combination of intertrochanteric shortening osteotomy and triple osteotomy have surgically corrected HOG with coexistent dysplasia of the lip. Surgery options for limb overgrowth depend on the differences in length: for differences less than 2 cm, an orthopedic insole is generally used; if the difference ranges from 2 to 4 cm, then the longer arm may be surgically shortened; and if the difference is more than 4 cm, the shorter arm may be lengthened.…”

Section: Discussionmentioning

confidence: 99%

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Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

et al. 2016

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Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications.We studied the occurrence and features of HOG in the 114 children and adults with mosaic pigmentary disorders of the Ito type diagnosed and followed up (from 2 to 22 years; average follow-up 16 years) at our Institutions.Eight patients (5 M, 3 F; aged 4 to 25 years; median age 16 years) out of the 114 analyzed (7%) fulfilled the criteria for unilateral HOG, with differences in diameter ranging from 0.4 to 4.0 cm (upper limbs) and 1.0 to 9.0 cm (lower limbs). Moreover, among these 8 patients, 5/8 filled in the 75th to 90th percentile for height; 6/8 had associated kyphoscoliosis; and 5/8 showed cognitive delays. No tumour complications were recorded. Overall, 6/8 HOG patients presented with additional (extracutaneous) syndromic manifestations, apart from the HOG (ie, with a clinical phenotype of hypomelanosis of Ito).The present study, which includes children and adults with the longest follow-up so far recorded, confirms the association between pigmentary mosaicism of the Ito type and HOG lowering previous estimates (7% vs 16%) for HOG in the context of mosaic hypopigmentation. A careful examination, looking at subtle to moderate asymmetries and associated complications within the spectrum of these mosaic pigmentary disorders, is recommended.

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Section: Discussionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 99%

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

et al. 2016

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“…He described it as ‘incontinentia pigmenti achromians’ and in 1973 Jelinek was able to differentiate this from that of Block-Sulzberger syndrome [1]. Originally described as a purely cutaneous disease, several extracutaneous manifestations were later described and added in the literature, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system (CNS) symptoms [2,3]. Because of this, the syndrome has been much debated in the literature with regard to whether or not it can actually be called a syndrome or merely should be regarded as a phenotype [4].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2014

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IntroductionHypomelanosis 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 presentationA 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.ConclusionsIt 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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Fallbericht über das Ito-Syndrom mit angeborener Hemihypertrophie aus orthopädischer Sicht

Cited by 2 publications

References 1 publication

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

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

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