Association of Piebaldism and Neurofibromatosis Type 1 in a Girl
- 1 November 2001
- journal article
- case report
- Published by Wiley in Pediatric Dermatology
- Vol. 18 (6) , 490-493
- https://doi.org/10.1046/j.1525-1470.2001.1862005.x
Abstract
We report an 11‐year‐old girl with both piebaldism and neurofibromatosis type 1 (NF1). The patient had large depigmented patches on her lower limbs and a white forelock since birth. In addition, some café au lait spots were present on her trunk at birth and had increased in number and size during childhood in concomitance with the appearance of axillary and inguinal freckling. Neither neurofibromas nor Lisch nodules were detected and the patient was otherwise healthy. Pedigree analysis revealed inheritance for piebaldism on the paternal side. To our knowledge, the association of piebaldism and NF1 has been described previously in only three patients. Awareness of this rare association is relevant to ensure early diagnosis and adequate follow‐up for NF1.Keywords
This publication has 19 references indexed in Scilit:
- Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1American Journal of Human Genetics, 2000
- The diagnostic value of café-au-lait maculesJournal of the American Academy of Dermatology, 1999
- Evidence for the Presence of the Second Allele of the Neurofibromatosis Type 1 Gene in Melanocytes Derived from Café au Lait Macules of NF1 PatientsBiochemical and Biophysical Research Communications, 1997
- The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2Published by American Medical Association (AMA) ,1997
- Familial cafe au lait spots: a variant of neurofibromatosis type 1.Journal of Medical Genetics, 1995
- Congenital disorders of hypopigmentationSeminars in Dermatology, 1995
- Familial multiple cafe au lait spotsArchives of Dermatology, 1994
- Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up studyEuropean Journal of Pediatrics, 1993
- Autosomal dominant multiple café‐au‐lait spots and neurofibromatosis‐1: Evidence of non‐linkageAmerican Journal of Medical Genetics, 1993