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Axillary freckling

MedGen UID:
348082
Concept ID:
C1860335
Finding
HPO: HP:0000997

Definition

The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Axillary freckling

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
Café-au-lait macules with pulmonary stenosis
MedGen UID:
107817
Concept ID:
C0553586
Disease or Syndrome
Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).
Pheochromocytoma-islet cell tumor syndrome
MedGen UID:
401431
Concept ID:
C1868392
Neoplastic Process
Legius syndrome
MedGen UID:
370709
Concept ID:
C1969623
Disease or Syndrome
Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.
Neurofibromatosis-Noonan syndrome
MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.
Chromosome 17q11.2 deletion syndrome, 1.4 MB
MedGen UID:
462278
Concept ID:
C3150928
Disease or Syndrome
Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).
Turcot syndrome
MedGen UID:
1748029
Concept ID:
C5399763
Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Mismatch repair cancer syndrome 3
MedGen UID:
1733656
Concept ID:
C5436807
Disease or Syndrome
Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).

Recent clinical studies

Etiology

Chen L, Xue F, Xu J, He J, Fu W, Zhang Z, Kang Q
Mol Genet Genomic Med 2019 Sep;7(9):e904. Epub 2019 Jul 25 doi: 10.1002/mgg3.904. PMID: 31347283Free PMC Article
Yaşar Ş, Ersanli A, Göktay F, Aytekin S, Cebeci D, Güneş P
J Dermatol 2017 Jan;44(1):29-35. Epub 2016 Jul 21 doi: 10.1111/1346-8138.13510. PMID: 27439996
Baris HN, Barnes-Kedar I, Toledano H, Halpern M, Hershkovitz D, Lossos A, Lerer I, Peretz T, Kariv R, Cohen S, Half EE, Magal N, Drasinover V, Wimmer K, Goldberg Y, Bercovich D, Levi Z
Pediatr Blood Cancer 2016 Mar;63(3):418-27. Epub 2015 Nov 6 doi: 10.1002/pbc.25818. PMID: 26544533
Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P
Oncogene 2015 Jan 29;34(5):631-8. Epub 2014 Jan 27 doi: 10.1038/onc.2013.587. PMID: 24469042
Tong HX, Li M, Zhang Y, Zhu J, Lu WQ
Genet Mol Res 2012 Aug 29;11(3):2972-8. doi: 10.4238/2012.July.10.6. PMID: 22869071

Diagnosis

Kou CJ, Rendo M, Broadwater DR, Beeler B
Mil Med 2021 May 3;186(5-6):e626-e631. doi: 10.1093/milmed/usaa458. PMID: 33180928
Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R
Ital J Pediatr 2019 Nov 8;45(1):138. doi: 10.1186/s13052-019-0718-7. PMID: 31703719Free PMC Article
Chen W, Fan PC, Happle R
Dermatology 2004;209(4):321-4. doi: 10.1159/000080856. PMID: 15539896
Wainer S
CMAJ 2002 Aug 6;167(3):282-3. PMID: 12186179Free PMC Article
CROWE FW
Ann Intern Med 1964 Dec;61:1142-3. doi: 10.7326/0003-4819-61-6-1142. PMID: 14233837

Therapy

Chen L, Xue F, Xu J, He J, Fu W, Zhang Z, Kang Q
Mol Genet Genomic Med 2019 Sep;7(9):e904. Epub 2019 Jul 25 doi: 10.1002/mgg3.904. PMID: 31347283Free PMC Article

Prognosis

Park J
J Pediatr Surg 2007 Jun;42(6):E15-8. doi: 10.1016/j.jpedsurg.2007.03.055. PMID: 17560189
Edwards PC, Fantasia JE, Saini T, Rosenberg TJ, Sachs SA, Ruggiero S
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 Dec;102(6):765-72. Epub 2006 Mar 30 doi: 10.1016/j.tripleo.2005.10.038. PMID: 17138179
Origone P, Bonioli E, Panucci E, Costabel S, Ajmar F, Coviello DA
Prenat Diagn 2000 Sep;20(9):719-24. doi: 10.1002/1097-0223(200009)20:9<719::aid-pd895>3.0.co;2-x. PMID: 11015700
Ogose A, Hotta T, Imaizumi S, Saito H, Homma T, Takahashi HE
Skeletal Radiol 2000 Sep;29(9):543-7. doi: 10.1007/s002560000234. PMID: 11000302
DeBella K, Szudek J, Friedman JM
Pediatrics 2000 Mar;105(3 Pt 1):608-14. doi: 10.1542/peds.105.3.608. PMID: 10699117

Clinical prediction guides

Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R
Ital J Pediatr 2019 Nov 8;45(1):138. doi: 10.1186/s13052-019-0718-7. PMID: 31703719Free PMC Article
White KA, Swier VJ, Cain JT, Kohlmeyer JL, Meyerholz DK, Tanas MR, Uthoff J, Hammond E, Li H, Rohret FA, Goeken A, Chan CH, Leidinger MR, Umesalma S, Wallace MR, Dodd RD, Panzer K, Tang AH, Darbro BW, Moutal A, Cai S, Li W, Bellampalli SS, Khanna R, Rogers CS, Sieren JC, Quelle DE, Weimer JM
JCI Insight 2018 Jun 21;3(12) doi: 10.1172/jci.insight.120402. PMID: 29925695Free PMC Article
Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F
J Hum Genet 2017 Nov;62(11):1001-1004. Epub 2017 Jul 27 doi: 10.1038/jhg.2017.78. PMID: 28747691
Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P
Oncogene 2015 Jan 29;34(5):631-8. Epub 2014 Jan 27 doi: 10.1038/onc.2013.587. PMID: 24469042
Büyükkapu-Bay S, Akça A, Karadoğan M, Çorapçioğlu F, Anik Y
J Child Neurol 2014 Mar;29(3):385-8. Epub 2013 Feb 17 doi: 10.1177/0883073812475157. PMID: 23420652

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