Despite progress in understanding the molecular basis, the diagnosis of neurofibromatosis 1 (NF 1) is based on clinical criteria, established by the National Institute of Health (NIH) Consensus Conference in 1987. The association of NF1 and piebaldism has been reported, but some authors disagree with this co-occurrence. In the light of present knowledge, we highlight that both entities might co-exist in the same patient.
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Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.
Indian Dermatol Online J
December 2022
Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Article Synopsis
- Piebaldism is a rare genetic disorder characterized by congenital leukoderma due to a mutation in a specific proto-oncogene receptor tyrosine kinase.
- A 10-year-old boy was diagnosed with piebaldism after presenting with depigmented macules, café au lait macules, and skin fold freckling, which complicated the diagnosis.
- Exome sequencing confirmed the diagnosis by identifying a pathogenic variant, enhancing our understanding of the tyrosine kinase function, and clarifying that these symptoms do not imply an overlap with Neurofibromatosis type 1.
Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature.
Ann Dermatol
October 2019
Department of Dermatology, Dokuz Eylul University, Faculty of Medicine, İzmır, Turkey.
We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 () due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and . However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for .
View Article and Find Full Text PDFPiebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel mutation.
JAAD Case Rep
May 2018
Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
[Piebaldisme: a rare genodermatosis].
Pan Afr Med J
October 2017
Service de Dermatologie, CHU Hassan II, Fès, Maroc.
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case.
View Article and Find Full Text PDFAssociation of Piebaldism with Café-au-Lait Macules.
Skinmed
August 2019
Department of Dermatology and Venereology, Government Medical College, Haldwani (Nainital) 263139, Uttarakhand, India.
A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2).
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