Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation

Nagaputra, Jerry C.; Koh, Mark Jean‐Aan; Brett, Maggie; Lim, Eileen C.P.; Lim, Hwee-Woon; Tan, Ene‐Choo

doi:10.1016/j.jdcr.2017.10.005

Cited by 3 publications

(4 citation statements)

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“…Similar molecular confirmation of KIT mutation without NF1 and SPRED1 mutation has been made earlier by Nagaputra JC et al . (2018)[ 3 ] and Stevens CA et al . (2012)[ 12 ] supporting the hypothesis of Chiu et al .…”

Section: Discussionmentioning

confidence: 99%

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KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence

Hegde

Srinivas²,

Nanjundappa³

2023

Indian Dermatol Online J

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Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the diagnosis. A diagnosis of piebaldism was made via exome sequencing that showed a pathogenic variant of KIT gene with no pathogenic variants of NF1 or SPRED1 gene. Our current understanding of the KIT tyrosine kinase function may provide a better explanation into this phenotypic coexistence and does not necessarily represent an overlap with Neurofibromatosis type 1.

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Section: Discussionmentioning

confidence: 99%

“…Coexistence of café au lait like macules (CALM) and freckling leads to diagnostic dilemma. [ 3 ] Without genetic testing, these overlapping presentations make it difficult to assess prognosis in such patients.…”

Section: Introductionmentioning

confidence: 99%

KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence

Hegde

Srinivas²,

Nanjundappa³

2023

Indian Dermatol Online J

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confidence: 99%

“…. This pigment anomaly results from a mutation in the proto-oncogene KIT at chromosome 4, or in the gene SLUG at chromosome 8; these mutations are responsible for a lack of migration and differentiation of melanoblasts during embryogenesis [6][7][8].…”

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confidence: 99%

Piebaldism: about an Observation and Review of the Literature

2018

JOJDC

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4,5]. This pigment anomaly results from a mutation in the proto-oncogene KIT at chromosome 4, or in the gene SLUG at chromosome 8; these mutations are responsible for a lack of migration and differentiation of melanoblasts during embryogenesis [6][7][8].Clinically, this syndrome is manifested by the presence, at birth, depigmented spots that may interest the face, chest, abdomen, extremities. These spots are stable and persistent with distribution symmetry [9]. A lock of white hair, often triangular in shape, is present on the front of the scalp, sometimes with the underlying forehead [10]. In 80 to 90% of cases, this frontal white lock may be the only clinical manifestation [2,11]. Eyelashes

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Piebaldism: An Iranian case report carrying minor allele at rs999020 and rs1008658 SNPs of KIT gene

et al. 2019

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Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation

Cited by 3 publications

References 10 publications

KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence

KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence

Piebaldism: about an Observation and Review of the Literature

Piebaldism: An Iranian case report carrying minor allele at rs999020 and rs1008658 SNPs of KIT gene

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