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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ito's syndrome is a distinct entity characterized by bilateral systematized linear depigmentations denominated by Ito as "incontinentia pigmentiachromians". The syndrome includes a variety of anomalies predominantly affecting the central nervous system, the eyes, and the muscular-skeletal-system. The patient described in this paper was a 26 year old man suffering from a sever scoliosis. This anomaly had not been mentioned in previous case reports.
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PMID:[Ito's syndrome (incontinentia pigmenti achromians)]. 95 Mar 3

Nineteen children with hypomelanosis of Ito are described. Fourteen were developmentally delayed and nine had a history of seizures. Hemihypertrophy was present in four patients, syndactyly in three, and scoliosis in one. Twelve of the children had abnormal electroencephalograms and nine had abnormal brain scans, four with appearances suggestive of abnormal neuronal migration. There is very little evidence, either from the literature or from our patients, that the disease is inherited. The pattern of the cutaneous lesions suggests that the condition may result from the presence of two different cell populations as a result of mosaicism.
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PMID:Hypomelanosis of Ito: spectrum of the disease. 232 41

In most patients with hypomelanosis of Ito, the hypopigmentation is characterized by narrow bands following the lines of Blaschko. We report a 13-year-old severely retarded girl with leaf-shaped patches of hypopigmentation on the back together with short stature, scoliosis, facial dysmorphism, and asymmetrical leg length. The cytogenetic examination of both lymphocytes and fibroblasts demonstrated a mosaicism of 46,XX/47,XX+13. This result was confirmed by in situ hybridization using a chromosome 13-specific library in interphase cells. The pigmentary disturbance of our patient was similar to the phylloid pattern (type 3) of the classification of pigmentary patterns postulated by Happle. This type has been described in four patients so far, along with additional anomalies and a chromosomal mosaisicm in two patients.
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PMID:Phylloid pigmentary pattern with mosaic trisomy 13. 926 7

Hypomelanosis of Ito (HI) is an uncommon skin disorder characterized by the presence of hypochromic areas associated with visceral abnormalities, the most common being neurological, muscular, skeletal and ocular. The authors describe a typical case of hypomelanosis of Ito in a 7-year-old child. The patient was obese, suffered from scoliosis, flat feet and had a bilateral genu valgus. No neurological, ophthalmological or dental malformations were noted. An electron microscopic study of a hypomelanotic area showed decreased functional activity in the melanocytes, which contained only a few rudimentary cytoplasmatic projections and poorly developed organelles. In addition, there was a reduction in the number of mature melanosomes.
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PMID:Hypomelanosis of Ito: a case report with clinical and ultrastructural data. 955 63

Hypomelanosis of Ito (HOI) is a multisystem neurocutaneous disorder. In the described cases, cutaneous manifestations (unilateral or bilateral streaks and swirls of hypomelanosis with regular and confluent borders) and extracutaneous abnormalities are often associated. Extracutaneous abnormalities involve the musculoskeletal system (scoliosis, vertebral anomalies, cranial-facial malformations) and other organs, as well as the central nervous system (CNS). The most significant anomalies of the CNS are psychomotor retardation and cognitive deficit. Autism, epilepsy, language disorders, cerebral malformations (neural migration disorders, cerebral hypoplasia, cortical atrophy, agenesis of the corpus callosum) are sometimes present. Numerous abnormal chromosomal patterns have been observed. HOI is usually a sporadic disorder; though autosomal dominant transmission has been suggested, recessive and X-linked inheritance patterns have also been reported. This study describes five children with HOI presenting with various features of the clinical spectrum of the syndrome. Some of these cases were referred for psychomotor therapy as part of an integrated neuropsychologic and psychomotor treatment support program. In this view, psychomotor treatment aims to promote the emotional-relational component, to overcome rigid divisions, and to integrate learning-related cognitive aspects with psychodynamic concepts. Finally, the goals of psychological and social support are to help the parents accept their child's handicap, understand the child's behavior, plan future pregnancies, and foster an environment for their child's integration.
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PMID:Hypomelanosis of Ito: neurological and psychiatric pictures in developmental age. 2235 47