Incontinentia pigmenti. A rare disease with many symptoms
Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare multi-systemic disorder. The disease is characterised by abnormalities in ectodermal tissues including the skin, eyes, central nervous system and dentition. It is inherited as an X-linked dominant trait and is usually fatal for male fetuses. Thirty-eight Swedish patients from 16 families were identified. Thirty patients were examined clinically and their DNA were analysed for deletions in the NEMO-gene. The disease showed a large clinical variability even within families and the common deletion in the NEMO-gene was found present in 70% of the families.
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- "from pediatric and habilitation clinics all over Sweden [Holmstrom et al., 2002]. The diagnosis was confirmed by examinations by a multidisciplinary team of specialists in medicine and dentistry. "
ABSTRACT: Oral signs and symptoms are present in most ectodermal dysplasias (EDs). The aim of this article is to summarize some of the literature on current knowledge of oral manifestations and orofacial function in EDs. The review will focus on the most common forms where dental manifestations can be crucial for a differential diagnosis of ED among individuals with hypodontia and oligodontia, and preferably where the investigations included persons who had a genetically verified diagnosis. Disturbances in tooth development are common and can appear as tooth agenesis, variations in size and shape of teeth, defects in the mineralized tissues, and problems in tooth eruption. Abnormalities in number, size, and shape of teeth, and reduced salivary secretion, present in isolated oligodontia as well as in hypohidrotic ED and incontinentia pigmenti. In some more rare EDs these symptoms appear in combination with clefts of lip and/or palate in some affected individuals. Leukokeratosis in the oral mucosa presents in 70% of genetically confirmed cases of pachyonychia congenita. Also, orofacial function is often affected in ED, due to malformations, an incomplete dentition, and low salivary secretion which can compromise chewing, swallowing, and speech. In conclusion, there is a clinical overlap in oral signs and symptoms between isolated oligodontia and the most common EDs. Studies with genetically confirmed diagnoses and larger cohorts, as well as multicenter collaboration and the establishing of international registries, would create a basis for refined diagnostics, where oral examinations should be an integrated part of clinical assessment. © 2014 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 10/2014; 164(10). DOI:10.1002/ajmg.a.36571 · 2.16 Impact Factor
Article: The rare phakomatoses[Show abstract] [Hide abstract]
ABSTRACT: This article outlines the clinical, central nervous system, and neuropathologic features,pathogenesis, genetics, molecular biology, and neuroimaging characteristics of the rare vascular phakomatoses, melanophakomatoses, and organoid phakomatoses.Neuroimaging Clinics of North America 06/2004; 14(2):185-217, vii. DOI:10.1016/j.nic.2004.03.012 · 1.53 Impact Factor
Chapter: The Rare Phakomatoses[Show abstract] [Hide abstract]
ABSTRACT: The rare phakomatoses may be grouped broadly into vascular phakomatoses and melanophakomatoses. Other entities, such as basal cell nevus syndrome and organoid nevus syndrome, will also be discussed here. Finally, Cowden-Lhermitte-Duclos syndrome will be discussed at the end of this chapter.Pediatric Neuroradiology, 12/2004: pages 819-854;
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