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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 a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.
Café-au-lait macules with pulmonary stenosis
MedGen UID:
107817
Concept ID:
C0553586
Disease or Syndrome
Watson syndrome (WTSN) 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.
Mismatch repair cancer syndrome 1
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.
Chromosome 17q11.2 deletion syndrome, 1.4Mb
MedGen UID:
1726802
Concept ID:
C5401456
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).
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).

Professional guidelines

PubMed

Kocabey M, Özkalaycı H, Çankaya T, Yılmaz Uzman C, Çağlayan AO, Ülgenalp A, Erçal MD
Int J Dev Neurosci 2023 Aug;83(5):456-465. Epub 2023 Jun 6 doi: 10.1002/jdn.10278. PMID: 37280783
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
DeBella K, Szudek J, Friedman JM
Pediatrics 2000 Mar;105(3 Pt 1):608-14. doi: 10.1542/peds.105.3.608. PMID: 10699117

Recent clinical studies

Etiology

Medina Lemus A, Boelman C, Myers KA
Am J Med Genet A 2024 Jun;194(6):e63547. Epub 2024 Jan 24 doi: 10.1002/ajmg.a.63547. PMID: 38268057
Bildirici Y, Kocaaga A, Karademir-Arslan CN, Yimenicioglu S
Pediatr Neurol 2023 Dec;149:69-74. Epub 2023 Sep 11 doi: 10.1016/j.pediatrneurol.2023.08.036. PMID: 37806041
Qayyum MU, Haq EU, Mahmood Kazmi SA, Zahra R
J Ayub Med Coll Abbottabad 2022 Oct-Dec;34(Suppl 1)(4):S1013-S1020. doi: 10.55519/JAMC-04-S4-9327. PMID: 36550665
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

Diagnosis

Kocabey M, Özkalaycı H, Çankaya T, Yılmaz Uzman C, Çağlayan AO, Ülgenalp A, Erçal MD
Int J Dev Neurosci 2023 Aug;83(5):456-465. Epub 2023 Jun 6 doi: 10.1002/jdn.10278. PMID: 37280783
Abramowicz A, Gos M
Dev Period Med 2014 Jul-Sep;18(3):297-306. PMID: 25182393
Victor FC
Dermatol Online J 2005 Dec 30;11(4):20. PMID: 16403392
North KN
Semin Pediatr Neurol 1998 Dec;5(4):231-42. doi: 10.1016/s1071-9091(98)80002-8. PMID: 9874851
Hager CM, Cohen PR, Tschen JA
J Am Acad Dermatol 1997 Nov;37(5 Pt 2):864-9. doi: 10.1016/s0190-9622(97)80013-8. PMID: 9366854

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

Medina Lemus A, Boelman C, Myers KA
Am J Med Genet A 2024 Jun;194(6):e63547. Epub 2024 Jan 24 doi: 10.1002/ajmg.a.63547. PMID: 38268057
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
Cohen BH, Rothner AD
Oncology (Williston Park) 1989 Sep;3(9):23-30; discussion 34, 37-8. PMID: 2518324
Bergin DJ, Johnson TE, Spencer WH, McCord CD
Am J Ophthalmol 1988 Feb 15;105(2):146-9. doi: 10.1016/0002-9394(88)90177-8. PMID: 3341431

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
Ramanjam V, Adnams C, Ndondo A, Fieggen G, Fieggen K, Wilmshurst J
J Child Neurol 2006 Jan;21(1):63-70. doi: 10.1177/08830738060210011501. PMID: 16551456
Trovó-Marqui AB, Goloni-Bertollo EM, Valério NI, Pavarino-Bertelli EC, Muniz MP, Teixeira MF, Antonio JR, Tajara EH
Braz J Med Biol Res 2005 Sep;38(9):1441-7. Epub 2005 Aug 26 doi: 10.1590/s0100-879x2005000900020. PMID: 16138229
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

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