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Neurofibromatosis type 6

MedGen UID:
396266
•Concept ID:
C1861975
•
Disease or Syndrome
Synonyms: Cafe au lait spots, multiple; Cafe-au-Lait Spots, Multiple; Multiple cafe-au-lait spots
SNOMED CT: Multiple café-au-lait syndrome (1208340009); NF6 - neurofibromatosis type 6 (1208340009); Neurofibromatosis type 6 (1208340009); Familial café-au-lait spots (1208340009); Multiple café-au-lait spots (1208340009); Familial CALMs (café-au-lait macules) isolated (1208340009); Familial isolated café-au-lait spots (1208340009); Familial isolated café-au-lait macules (1208340009)
 
OMIM®: 114030

Definition

A cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission is autosomal dominant. [from SNOMEDCT_US]

Professional guidelines

PubMed

A Review of Selumetinib in the Treatment of Neurofibromatosis Type 1-Related Plexiform Neurofibromas.
Anderson MK, Johnson M, Thornburg L, Halford Z
Ann Pharmacother 2022 Jun;56(6):716-726. Epub 2021 Sep 18 doi: 10.1177/10600280211046298. PMID: 34541874
Neurofibromatosis type 1: New developments in genetics and treatment.
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
The Diagnosis and Management of Neurofibromatosis Type 1.
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003

Recent clinical studies

Diagnosis

Multiple or familial café-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis.
Madson JG
Dermatol Online J 2012 May 15;18(5):4. PMID: 22630574

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