Neurofibromatosis Type 6

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

MAP2K2, AKT1, MAN1B1, TSC1, TSC2, XRCC2, KDM5C, TP63, BUB3, TRIP13, CEP57, ABCB6, MAD2L2, SEC23B, CIB1, TMC6, SDHC, PLXND1, UBE2T, SMARCAL1, FANCL, RFWD3, FANCI, FANCM, PALB2, BRIP1, SLX4, TWIST2, TMC8, ARL6IP6, SDHD, SDHB, ATM, FANCG, BRCA1, BRAF, BRCA2, BUB1, BUB1B, ERCC4, FANCA, FANCC, FANCD2, FANCE, FANCB, FANCF, GNAS, REV3L, IL7, KRAS, NF1, NF2, PCNT, PIK3CA, MAP2K1, PTEN, RAD51, RAD51C, KLLN, MRC1, MSH2

Drugs

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Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.

Epidemiology

Prevalence is unknown, but the disease appears to be extremely rare.

Clinical description

The macules may appear in infancy, but usually they are detected after 2 years of age. CAL lesions are hyperpigmented with smooth or irregular borders. Their size may vary from a few millimeters to more than 10 cm.

Etiology

The etiology of NF6 remains unknown. Close linkage to the NF1 gene (17q11.2) has been reported in some cases.

Diagnostic methods

The diagnosis is based on the presence of six or more CAL macules.

Differential diagnosis

Differential diagnoses include neurofibromatosis type 1, McCune-Albright syndrome, and tuberous sclerosis (see these terms).

Genetic counseling

Transmission is autosomal dominant.

Management and treatment

Isolated CAL lesions do not require medical care.

Prognosis

CAL spots are benign and may resolve with age.