2015
DOI: 10.1055/s-0035-1564442
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Intellectual Disability: When the Hypertrichosis Is a Clue

Abstract: The skin and the central and peripheral nervous system both derive from the ectoderm ridge. Therefore, several syndromes characterized by the presence of intellectual disability (ID) can be associated with specific congenital cutaneous manifestations. In this review, we list some of the most frequent diseases characterized by the presence of ID associated with hirsutism, which might be an incentive for the clinicians to pay attention to the ectodermal annexes in patients with ID.

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Cited by 7 publications
(7 citation statements)
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“…It can be included in the genetically heterogeneous group of chromatin disorders, which represents a specific set of ID syndromes. These are mainly caused by mutations in the various components of the chromatin remodeling BAF-complex (which are typically accompanied by hypertrichosis as often happens in ID [5] ) or in the histone' s modifiers, including SETD5. The latter encodes a ubiquitously expressed methyltransferase containing a conserved domain of 130 amino acids and 2 signature motifs (ELxF/YDY and NHS/CxxPN), acting as essential gene for normal embryo development and survival, as has been demonstrated by previous in vivo studies [6][7][8][9] .…”
Section: Discussionmentioning
confidence: 99%
“…It can be included in the genetically heterogeneous group of chromatin disorders, which represents a specific set of ID syndromes. These are mainly caused by mutations in the various components of the chromatin remodeling BAF-complex (which are typically accompanied by hypertrichosis as often happens in ID [5] ) or in the histone' s modifiers, including SETD5. The latter encodes a ubiquitously expressed methyltransferase containing a conserved domain of 130 amino acids and 2 signature motifs (ELxF/YDY and NHS/CxxPN), acting as essential gene for normal embryo development and survival, as has been demonstrated by previous in vivo studies [6][7][8][9] .…”
Section: Discussionmentioning
confidence: 99%
“…Problemas neurológicos são habitualmente encontrados concomitantemente a aparição da hipertricose congênita em síndromes específicas. A explicação é que, embriologicamente, o ectoderma origina o sistema nervoso e a pele, assim a deficiência intelectual pode estar fortemente associada a presença dessas manifestações cutâneas congênitas (Pezzani, et al, 2015).…”
Section: Resultsunclassified
“…Hypertrichosis in the present case was mainly detected in lumbar and coccygeal regions, but she did not have hypertrichosis cubiti. The presence of hypertrichosis in a number of syndromes, including CdLS, Coffin-Siris syndrome, and WDSTS, and other shared clinical features of these syndromes including cognitive delay, failure to thrive, and dysmorphic features challenge the distinction of these syndromes based on phenotypic information [Pavone et al, 2015;Pezzani et al, 2015].…”
Section: Resultsmentioning
confidence: 99%