Association of Piebaldism and Neurofibromatosis Type 1 in a Girl

Cignarelli, Angelo; Cianchini, Giuseppe; Grosso, Maria Gabriella; Zambruno, Giovanna; Cavalieri, R.; Paradisi, Mauro

doi:10.1046/j.1525-1470.2001.1862005.x

Cited by 25 publications

(18 citation statements)

References 18 publications

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“…At least four cases of piebaldism associated with neurofibromatosis have been reported and none of them developed neurofibromas, although at their young age (3-17 years of age) it is not possible to exclude the possibility of subsequent development of those lesions [8]. Whether, the simultaneous occurrence of these two dominantly inherited diseases is significantly higher than by chance remains to be established [13].…”

Section: Discussionmentioning

confidence: 99%

“…Despite progress in understanding the molecular basis, the diagnosis of NF1 is based on clinical criteria established by the National Institute of Health (NIH) Consensus Conference in 1987 [8]. According to these criteria, two or more of the following findings establish the diagnosis of NF1: a) six or more café-au-lait spots greater than 5 mm in diameter in prepubertal individuals and more than 15 mm after puberty, b) two or more neurofibromas or one plexiform neurofibroma, c) freckling in the axilary or inguinal regions, d) optic pathway tumor, e) two or more Lisch nodules (iris hamartomas), f) distinctive bone lesions such as sphenoid wing dysplasia and g) a first-degree relative with NF1 [7][8][9].…”

Section: Introduction To Piebaldismmentioning

confidence: 99%

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Piebaldism and Neurofibromatosis type -1: Family Report Familial Case of Piebaldism with Regression of the Depigmentation over the Trunk

Alembo¹

2013

J Clin Exp Dermatol Res

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Case 1A 36 years old man presented to dermatology department, ALERT hospital for a consultation of his skin problem. He states that he has a congenital pigment disorder. He was worried if it were leprosy. He had no symptoms of leprosy such as numbness of the extremities or contact history either. The patient claimed the pigment disorder, mainly on his trunk, improved a lot over the years. He also brought two of his children (9yr old boy and 1yr and7/12 daughter) to the hospital, for they had similar congenital disorder. The children had no other medical problems.Physical examinations reveals poliosis (loss of pigment of the hair) over the scalp (fronto-temporal), medial part of the eye brow of the left side and the chin area. The skin over the anterior trunk has hypopigmented patches with areas of repigmentations and leukotrichia. There are also numerous discrete café-au-lait spots of different size (>15mm the largest one) located over the back of the patient. There were also axillary frecklings. No neurofibromas were observed (Figures1-3). Case 2Physical examination of the skin of the boy reveals patches of hypopigmentation and depigmentations over mid-forehead, chest, abdomen, upper and lower extremities. A white forelock and pigment loss of the medial eye brows were noted. Within the depigmented patches, islands of hyperpigmented macules are seen. Multiple hyperpigmented macules(café-au-lait spots of size >5 mm) were also seen over the back of this child .There were also axillary freckling. No neurofibromas were observed . AbstractPiebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from a mutation in the c-kit proto-oncogene and is associated with a defect in the migration and differentiation of melanoblasts from the neural crest. Clinical manifestations and phenotypic severity strongly correlates with the site of mutation within the KIT gene. The white hair and patches of such patients are completely formed at birth and do not usually progress or regress thereafter.Here I report a family (one year and seven months old daughter, nine year old boy and their father) with piebaldism associated with clinical criteria for Neurofibromatosis type -1. There are rare reports of piebaldism associated with neurofibromatosis -1. I also report a case of piebaldism with regression of the depigmentation over the trunk. Regression of the white foreloke was rarely reported but regression over the depigmentation over the trunk has not been reported. Case 3Physical examination of the skin of the daughter reveals mild forelock, depigmented patch over the abdomen , multiple café-au-lait spots (>5 mm) on her back with axillary frecklings .

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Section: Discussionmentioning

confidence: 99%

Section: Introduction To Piebaldismmentioning

confidence: 99%

Piebaldism and Neurofibromatosis type -1: Family Report Familial Case of Piebaldism with Regression of the Depigmentation over the Trunk

Alembo¹

2013

J Clin Exp Dermatol Res

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“…However, Schwann cell progenitors persist or Schwann cells dedifferentiate into progenitor-like cells in neurofibromas in NF1 [16]. Much evidence indicated that the loss of the Nf1 gene in NF1 plays an important role in the initiation of tumorigenesis of neurofibromas and that all of the known NF1 phenotypes result from the inheritance or appearance of a mutant allele of the Nf1 gene [17]. The Nf1 gene product, neurofibromin, functions as a GTPase activation protein (GAP), a negative regulator of the cellular Ras kinase [18].…”

Section: ………………………………………………………………………………mentioning

confidence: 99%

Ras-Directed N-Glycoproteins are Novel Early Biomarkers for Tumorigenesis and Malignant Transformation, and Therapeutic Targets of Neurofibromatosis Type I

Zhu¹

2012

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden to Department of Defense, Washington Headquarters Services, Directorate for Information PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES)MD Anderson cancer center PERFORMING ORGANIZATION REPORT NUMBER1515 Holcombe Blvd Houston,TX77030 SPONSORING / MONITORING AGENCY NAME(S) AND ADDRESS(ES) 10. SPONSOR/MONITOR'S ACRONYM(S)U.S.Army Medical Research and Material Command Fort Detrick, Maryland 21702 SPONSOR/MONITOR'S REPORT NUMBER(S) DISTRIBUTION / AVAILABILITY STATEMENTApproved for public release; distribution unlimited SUPPLEMENTARY NOTES ABSTRACTNeurofibromatosis type I (NF1) is a dominantly inherited disease affecting 3,000 individuals. The hall marker of NF1 is the development of neurofibromas and about 10% of neurofibroma will develop malignant peripheral nerve sheath tumors (MPNSTs). .In this report, we found AXL, c-MET and EGFR are aberrantly expressed in clinical specimens of neurofibromas and MPNSTs, and MPNST cells express high level of glycoproteins. We also found hyperactive Ras unregulated the expression of MGAT5B, one of the glycosyltransferases, to mediate the glycosylation and phosphorylation of kinase receptors in all MPNST cell lines and clinical specimens, and MGT5B shRNA knockdown significantly inhibited the glycosylation and phosphorylation of kinase receptors. We treated cells with 2-Deoxy-D-Glucose (2-DG), a potential glycosylation inhibitor, and found 2-DG inhibited the glycosylation and phosphorylation of AXL, EGFR, and c-MET and impaired receptor-mediated MEK-ERK1/2 and PI3K-AKT signaling in a dose-dependent manner, and inhibited the translocation of receptors from the cytoplasm to the cell surface and retained receptors in the ER and Golgi apparatus, but had no effect on normal human Schwann cells. Furthermore, we found that 2-DG inhibited the tumor development in NF1+/-;p53+/-mice. These novel findings suggest MGAT5B is a novel therapeutic target of NF1 to prevent the tumorigenesis and malignant transformation. SUBJECT TERMS

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“…Most patients are otherwise healthy and have no systemic symptoms, but piebaldism may rarely be associated with other disorders such as Hirschsprung's disease, neuro fi bromatosis type 1, Grover's disease, and deafness [64][65][66][67] . Also, because the depigmentation of piebaldism is striking in dark-skinned races, there is signi fi cant emotional burden.…”

Section: Piebaldismmentioning

confidence: 99%