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Inguinal freckling

MedGen UID:
320315
Concept ID:
C1834297
Finding
Synonym: Freckles in groin region
 
HPO: HP:0030052

Definition

The presence in the inguinal region (groin) 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  
  • Inguinal 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).
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, 1.4Mb
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).

Professional guidelines

PubMed

Gjorgjievska M, Bozhinovski G, Sukarova-Angelovska E, Kocova M, Kanzoska LM, Plaseska-Karanfilska D
Balkan Med J 2023 Jul 12;40(4):252-261. Epub 2023 Apr 19 doi: 10.4274/balkanmedj.galenos.2023.2022-12-28. PMID: 37073110Free PMC Article
Ece Solmaz A, Isik E, Atik T, Ozkinay F, Onay H
Clin Neurol Neurosurg 2021 Sep;208:106884. Epub 2021 Aug 12 doi: 10.1016/j.clineuro.2021.106884. PMID: 34418705

Recent clinical studies

Etiology

Gjorgjievska M, Bozhinovski G, Sukarova-Angelovska E, Kocova M, Kanzoska LM, Plaseska-Karanfilska D
Balkan Med J 2023 Jul 12;40(4):252-261. Epub 2023 Apr 19 doi: 10.4274/balkanmedj.galenos.2023.2022-12-28. PMID: 37073110Free PMC Article
Hom GL, Moodley S, Rothner AD, Moodley M
J Child Neurol 2020 Mar;35(3):242-246. Epub 2019 Dec 17 doi: 10.1177/0883073819889713. PMID: 31847678
Kokkinou E, Roka K, Alexopoulos A, Tsina E, Nikas I, Krallis P, Thanopoulou I, Nasi L, Makrygianni E, Tsoutsou E, Kosma K, Tsipi M, Tzetis M, Frysira H, Kattamis A, Pons R
Postgrad Med 2019 Sep;131(7):445-452. Epub 2019 Sep 12 doi: 10.1080/00325481.2019.1659708. PMID: 31443616
Dubov T, Toledano-Alhadef H, Chernin G, Constantini S, Cleper R, Ben-Shachar S
Pediatr Nephrol 2016 Jan;31(1):131-6. Epub 2015 Aug 28 doi: 10.1007/s00467-015-3191-6. PMID: 26314566
Descheemaeker MJ, Plasschaert E, Frijns JP, Legius E
J Intellect Disabil Res 2013 Sep;57(9):874-86. Epub 2012 Oct 24 doi: 10.1111/j.1365-2788.2012.01648.x. PMID: 23095048

Diagnosis

Wang MX, Dillman JR, Guccione J, Habiba A, Maher M, Kamel S, Panse PM, Jensen CT, Elsayes KM
Radiographics 2022 Jul-Aug;42(4):1123-1144. Epub 2022 Jun 24 doi: 10.1148/rg.210235. PMID: 35749292
Hom GL, Moodley S, Rothner AD, Moodley M
J Child Neurol 2020 Mar;35(3):242-246. Epub 2019 Dec 17 doi: 10.1177/0883073819889713. PMID: 31847678
Alves Júnior SF, Zanetti G, Alves de Melo AS, Souza AS Jr, Souza LS, de Souza Portes Meirelles G, Irion KL, Hochhegger B, Marchiori E
Respir Med 2019 Mar;149:9-15. Epub 2019 Jan 17 doi: 10.1016/j.rmed.2019.01.002. PMID: 30885426
Chiu YE, Dugan S, Basel D, Siegel DH
Pediatr Dermatol 2013 May-Jun;30(3):379-82. Epub 2012 Sep 28 doi: 10.1111/j.1525-1470.2012.01858.x. PMID: 23016555Free PMC Article
Jett K, Friedman JM
Genet Med 2010 Jan;12(1):1-11. doi: 10.1097/GIM.0b013e3181bf15e3. PMID: 20027112

Therapy

Alves Júnior SF, Zanetti G, Alves de Melo AS, Souza AS Jr, Souza LS, de Souza Portes Meirelles G, Irion KL, Hochhegger B, Marchiori E
Respir Med 2019 Mar;149:9-15. Epub 2019 Jan 17 doi: 10.1016/j.rmed.2019.01.002. PMID: 30885426
Mehlan J, Schüttauf F, Salamon JM, Kordes U, Friedrich RE, Mautner VF
Anticancer Res 2019 Feb;39(2):827-831. doi: 10.21873/anticanres.13181. PMID: 30711963

Prognosis

Alves Júnior SF, Zanetti G, Alves de Melo AS, Souza AS Jr, Souza LS, de Souza Portes Meirelles G, Irion KL, Hochhegger B, Marchiori E
Respir Med 2019 Mar;149:9-15. Epub 2019 Jan 17 doi: 10.1016/j.rmed.2019.01.002. PMID: 30885426
Ferrari L, Scuvera G, Tucci A, Bianchessi D, Rusconi F, Menni F, Battaglioli E, Milani D, Riva P
Hum Genet 2017 Oct;136(10):1329-1339. Epub 2017 Aug 3 doi: 10.1007/s00439-017-1832-5. PMID: 28776093

Clinical prediction guides

Ece Solmaz A, Isik E, Atik T, Ozkinay F, Onay H
Clin Neurol Neurosurg 2021 Sep;208:106884. Epub 2021 Aug 12 doi: 10.1016/j.clineuro.2021.106884. PMID: 34418705
Descheemaeker MJ, Plasschaert E, Frijns JP, Legius E
J Intellect Disabil Res 2013 Sep;57(9):874-86. Epub 2012 Oct 24 doi: 10.1111/j.1365-2788.2012.01648.x. PMID: 23095048
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
Arnsmeier SL, Riccardi VM, Paller AS
Arch Dermatol 1994 Nov;130(11):1425-6. PMID: 7979446

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