Familial multiple cafe au lait spots

Arnsmeier, Sheryl L.

doi:10.1001/archderm.130.11.1425

Cited by 7 publications

(7 citation statements)

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“…FCAL is also dominantly inherited and its genetic relationship to NF1 still debated since evidence of nonlinkage as well as of linkage to the NF1 locus has been reported in dierent families (6±9). In FCAL other diagnostic features of NF1, in particular axillary freckling and Lisch nodules, but not neuro®bromas, have been reported (10). In our patient the presence of multiple neuro®bromas in the paternal uncle is against the diagnosis of FCAL.…”

Section: Discussionsupporting

confidence: 40%

Association of Piebaldism and Neurofibromatosis Type 1 in a Girl

Cignarelli

Cianchini

Grosso

et al. 2001

Pediatric Dermatology

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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.

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Section: Discussionsupporting

confidence: 40%

Association of Piebaldism and Neurofibromatosis Type 1 in a Girl

Cignarelli

Cianchini

Grosso

et al. 2001

Pediatric Dermatology

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“…It is also possible that the remaining individuals have an NF1 mutation that is undetectable by current methods, a different overlapping Ras pathway disorder, or mutations in other unknown genes. There are several reports of families with isolated multiple café-au-lait macules inherited in an autosomal dominant pattern (Charrow et al, 1993; Arnsmeier et al, 1994; Nyström et al, 2009; Abeliovich et al, 1995; Brunner et al, 1993). Several of these families showed no linkage to the NF1 locus (Charrow et al, 1993; Nyström et al, 2009; Brunner et al, 1993), and one family’s phenotype did not segregate with SPRED1 (Nyström et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

SPRED 1 Mutations in a Neurofibromatosis Clinic

et al. 2010

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Legius syndrome, caused by SPRED1 mutations, has phenotypic overlap with neurofibromatosis type 1 (NF1) without tumorigenic manifestations. Patients fulfilling the NIH diagnostic criteria for NF1 were enrolled from the University of Utah NF Clinic and SPRED1 mutation analysis performed in order to identify the frequency of Legius syndrome within an NF1 clinic population. SPRED1 sequencing was performed on 151 individuals with the clinical diagnosis of NF1 and 2 individuals (1.3%) were found to have novel SPRED1 mutations, p.R18X and p.Q194X. The phenotypes for the two individuals with SPRED1 mutations included altered pigmentation without tumorigenesis. A specific SPRED1 haplotype allele was identified in 27 individuals. The frequency of SPRED1 mutations in patients meeting diagnostic criteria for NF1 in a hospital-based clinic is 1–2%. The likelihood an individual is harboring a SPRED1 mutation increases with age if multiple, non-pigmentary NF1 findings are absent. Legius syndrome patients may benefit from altered medical surveillance.

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“…9 A syndrome with phenotypic features similar to NF1, but caused by mutations in SPRED1, as well as an inherited form of multiple CALMs without other features of NF1, has also been described in the literature. [10][11][12][13] To our knowledge, the largest study to date examined 41 children with 6 or more CALMs. 14 Of these children, 80% were eventually diagnosed as having NF1 by the end of the study period.…”

Section: Discussionmentioning

confidence: 99%