An Indian Boy with Additional Features in Pallister-Killian Syndrome

Shah, Krati; George, Renu; Balla, Evangelynn Singh; Oommen, Samuel Philip; Padankatti, Caroline Sanjeev; Srivastava, Vivi M.; Danda, Sumita

doi:10.1007/s12098-011-0585-8

Cited by 4 publications

(3 citation statements)

References 6 publications

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“…The chromosomes involved in pigmentary mosaicism were the following: 2 [ 22 , 23 ], 3 [ 24 – 26 ], 4 [ 27 – 30 ], 5 [ 31 , 32 ], 7 [ 33 – 42 ], 8 [ 43 ], 9 [ 29 , 44 , 45 ], 10 [ 46 ], 12 [ 16 , 47 , 48 ], 13 [ 4 , 16 , 17 , 49 – 57 ], 14 [ 30 , 54 , 58 ], 15 [ 59 – 61 ], 16 [ 62 ], 18 [ 16 , 30 , 43 , 63 – 66 ], 20 [ 67 – 71 ], 22 [ 43 , 72 ], and the sex chromosomes [ 15 , 16 , 30 , 73 – 80 ]. Furthermore, mosaic states with translocations between chromosomes 1, 6, 12, 13, 14 and 21 were found [ 81 – 83 ].…”

Section: Resultsmentioning

confidence: 99%

Pigmentary mosaicism: a review of original literature and recommendations for future handling

Kromann¹,

Ousager²,

Ali³

et al. 2018

Orphanet J Rare Dis

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BackgroundPigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Our study is based on a database search in PubMed containing papers written in English, published between January 1985 and April 2017. The search yielded 174 relevant and original articles, detailing a total number of 651 patients.ResultsForty-three percent of the patients exhibited hyperpigmentation, 50% exhibited hypopigmentation, and 7% exhibited a combination of hyperpigmentation and hypopigmentation. Fifty-six percent exhibited extracutaneous manifestations. The presence of extracutaneous manifestations in each subgroup varied: 32% in patients with hyperpigmentation, 73% in patients with hypopigmentation, and 83% in patients with combined hyperpigmentation and hypopigmentation. Cytogenetic analyses were performed in 40% of the patients: peripheral blood lymphocytes were analysed in 48%, skin fibroblasts in 5%, and both analyses were performed in 40%. In the remaining 7% the analysed cell type was not specified. Forty-two percent of the tested patients exhibited an abnormal karyotype; 84% of those presented a mosaic state and 16% presented a non-mosaic structural or numerical abnormality. In patients with extracutaneous manifestations, 43% of the cytogenetically tested patients exhibited an abnormal karyotype. In patients without extracutaneous manifestations, 32% of the cytogenetically tested patients exhibited an abnormal karyotype.ConclusionWe recommend a uniform parlance when describing the clinical picture of pigmentary mosaicism. Based on the results found in this review, we recommend that patients with pigmentary mosaicism undergo physical examination, highlighting with Wood’s light, and karyotyping from peripheral blood lymphocytes and skin fibroblasts. It is important that both patients with and without extracutaneous manifestations are tested cytogenetically, as the frequency of abnormal karyotype in the two groups seems comparable. According to the results only a minor part of patients, especially those without extracutaneous manifestations, are tested today reflecting a need for change in clinical practice.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0778-6) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Pigmentary mosaicism: a review of original literature and recommendations for future handling

Kromann¹,

Ousager²,

Ali³

et al. 2018

Orphanet J Rare Dis

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“…Cross-sectional imaging findings in PKS can be variable, ranging from “normal” to, more commonly, abnormal with multiple malformations based on prior descriptions and limited images from the literature 4–32 (Table 1). In the largest study to date, Wilkens and colleagues found that 73% of their surveyed cohort of 33 patients had structural neurologic defects noted on brain CT or MRI in comparison to 63% of 87 reported cases in the literature.…”

Section: Discussionmentioning

confidence: 99%

Neuroimaging findings in Pallister-Killian syndrome

2017

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Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population. MRI abnormalities common to PKS include cerebral volume loss, malformations of cortical development, corpus callosum dysgenesis, white matter disease, and craniofacial malformations. In our patient, new findings of perisylvian with occipital polymicrogyria, vermian dysplasia, brachium pontis signal abnormality, dural anomalies, and unilateral atlas assimilation were noted. Micrencephaly and cortical dysplasia provide a likely explanation for severe intellectual disability and epilepsy in this patient population.

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“…Skin examination reveals linear leukoderma. Shah et al (2012), in a recent report, also reported post auricular as well as sacral pits. Examination of the scalp reveals abnormal hair.…”

mentioning

confidence: 91%

Pallister‐Killian syndrome: a common yet under‐recognised cause of epileptic spasms

Kapoor¹

2013

Epileptic Disorders

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An Indian Boy with Additional Features in Pallister-Killian Syndrome

Cited by 4 publications

References 6 publications

Pigmentary mosaicism: a review of original literature and recommendations for future handling

Pigmentary mosaicism: a review of original literature and recommendations for future handling

Neuroimaging findings in Pallister-Killian syndrome

Pallister‐Killian syndrome: a common yet under‐recognised cause of epileptic spasms

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