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Subcutaneous nodule

MedGen UID:
101803
Concept ID:
C0151811
Pathologic Function
Synonym: Subcutaneous nodules
SNOMED CT: Subcutaneous nodule (95325000); Nodule of subcutaneous tissue (95325000)
 
HPO: HP:0001482

Definition

Slightly elevated lesions on or in the skin with a diameter of over 5 mm. [from HPO]

Conditions with this feature

Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
Knuckle pads
MedGen UID:
78103
Concept ID:
C0264000
Disease or Syndrome
Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'
Farber lipogranulomatosis
MedGen UID:
78654
Concept ID:
C0268255
Disease or Syndrome
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.
Winchester syndrome
MedGen UID:
98152
Concept ID:
C0432289
Disease or Syndrome
Winchester syndrome (WNCHRS) presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007). Reviews Winter (1989) provided a review of Winchester syndrome. De Vos et al. (2019) reviewed Winchester syndrome, Frank-Ter Haar syndrome (249420), and MONA, tabulating the clinical features of 63 reported patients and noting significant overlap, including craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. Because the protein products of all 3 causative genes (MMP14; SH3PXD2B, 613293; MMP2, 120360) are involved in collagen remodeling, the authors suggested grouping them together in a revised nosologic classification, designated 'defective collagen-remodeling spectrum (DECORS).'
Multicentric osteolysis nodulosis arthropathy spectrum
MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Hypoproteinemia, hypercatabolic
MedGen UID:
343422
Concept ID:
C1855796
Disease or Syndrome
Immunodeficiency-43 (IMD43) is an autosomal recessive immunologic disorder characterized by decreased or absent expression of MHC class I molecules on the cell surface. Most affected individuals develop recurrent bacterial respiratory tract infections in childhood or adulthood, which may progress to bronchiectasis, and about half develop ulcerating or necrotizing granulomatous inflammatory skin lesions. Laboratory studies show decreased numbers of B cells, hypogammaglobulinemia, hypoproteinemia, and decreased alpha-beta CD8+ T cells with increased gamma-delta CD8+ T cells. The severity is variable, and some individuals may be asymptomatic (summary by Ardeniz et al., 2015). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571).
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Leukocyte adhesion deficiency 3
MedGen UID:
411605
Concept ID:
C2748536
Disease or Syndrome
Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920.
Proteasome-associated autoinflammatory syndrome 2
MedGen UID:
1648482
Concept ID:
C4747989
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
MedGen UID:
1673640
Concept ID:
C5193037
Disease or Syndrome
Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the GLS gene was found (see MOLECULAR GENETICS) (Rumping et al., 2019). GLS loss of function is implicated in developmental and epileptic encephalopathy-71 (DEE71; 618328) and a syndrome of global developmental delay and progressive ataxia (GDPAG; 618412).
Hyaline fibromatosis syndrome
MedGen UID:
1805033
Concept ID:
C5574677
Disease or Syndrome
Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.

Professional guidelines

PubMed

Li J, Shi Y, Zhou C, Lin J
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Recent clinical studies

Etiology

Lee JH, Kim J, Lee YN, Choi S, Lee YI, Suk J, Lee JH
J Cosmet Dermatol 2024 Feb;23(2):409-416. Epub 2023 Sep 13 doi: 10.1111/jocd.15944. PMID: 37705328
Kim JG, Ahn CS, Sohn WM, Nawa Y, Kong Y
J Korean Med Sci 2018 Oct 29;33(44):e273. Epub 2018 Sep 21 doi: 10.3346/jkms.2018.33.e273. PMID: 30369856Free PMC Article
Ţăranu T, Grigorovici M, Constantin M, Toader MP
Acta Dermatovenerol Croat 2017 Dec;25(4):292-294. PMID: 30064602
Verzì AE, Amin SM, Guitart J, Micali G
G Ital Dermatol Venereol 2015 Aug;150(4):419-28. PMID: 26224231
Fender AB, Gust A, Wang N, Scott GA, Mercurio MG
Pediatr Dermatol 2008 Jan-Feb;25(1):34-7. doi: 10.1111/j.1525-1470.2007.00578.x. PMID: 18304150

Diagnosis

Collinson AC, Moore L, Cheung A, Gold MS, Goh DW
J Paediatr Child Health 2022 Mar;58(3):388-391. Epub 2022 Feb 9 doi: 10.1111/jpc.15900. PMID: 35137488
Greenwood JD, Merry SP, Boswell CL
Prim Care 2022 Mar;49(1):1-22. Epub 2022 Jan 5 doi: 10.1016/j.pop.2021.10.001. PMID: 35125151
Becker JC, Stang A, DeCaprio JA, Cerroni L, Lebbé C, Veness M, Nghiem P
Nat Rev Dis Primers 2017 Oct 26;3:17077. doi: 10.1038/nrdp.2017.77. PMID: 29072302Free PMC Article
Bittencourt MJS, Santos JEBD, Barros JNDS Junior, Xerfan EMS
An Bras Dermatol 2017 Jul-Aug;92(4):578-579. doi: 10.1590/abd1806-4841.20176011. PMID: 28954120Free PMC Article
Baugh W, Quigley MM, Barrett TL
J Cutan Pathol 2000 Nov;27(10):526-8. doi: 10.1034/j.1600-0560.2000.027010526.x. PMID: 11100812

Therapy

Lee JH, Kim J, Lee YN, Choi S, Lee YI, Suk J, Lee JH
J Cosmet Dermatol 2024 Feb;23(2):409-416. Epub 2023 Sep 13 doi: 10.1111/jocd.15944. PMID: 37705328
Collinson AC, Moore L, Cheung A, Gold MS, Goh DW
J Paediatr Child Health 2022 Mar;58(3):388-391. Epub 2022 Feb 9 doi: 10.1111/jpc.15900. PMID: 35137488
Silcock R, Crawford NW, Perrett KP
Expert Rev Vaccines 2019 Apr;18(4):405-410. Epub 2019 Mar 11 doi: 10.1080/14760584.2019.1586540. PMID: 30808246
Keni SP, Sidle DM
Facial Plast Surg Clin North Am 2007 Feb;15(1):91-7, vii. doi: 10.1016/j.fsc.2006.10.005. PMID: 17317560
Seah SK
Can Med Assoc J 1974 Mar 16;110(6):665-8. PMID: 4817212Free PMC Article

Prognosis

Kim JG, Ahn CS, Sohn WM, Nawa Y, Kong Y
J Korean Med Sci 2018 Oct 29;33(44):e273. Epub 2018 Sep 21 doi: 10.3346/jkms.2018.33.e273. PMID: 30369856Free PMC Article
Ţăranu T, Grigorovici M, Constantin M, Toader MP
Acta Dermatovenerol Croat 2017 Dec;25(4):292-294. PMID: 30064602
Becker JC, Stang A, DeCaprio JA, Cerroni L, Lebbé C, Veness M, Nghiem P
Nat Rev Dis Primers 2017 Oct 26;3:17077. doi: 10.1038/nrdp.2017.77. PMID: 29072302Free PMC Article
Fender AB, Gust A, Wang N, Scott GA, Mercurio MG
Pediatr Dermatol 2008 Jan-Feb;25(1):34-7. doi: 10.1111/j.1525-1470.2007.00578.x. PMID: 18304150
Fahal AH, Hassan MA
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Clinical prediction guides

Collinson AC, Moore L, Cheung A, Gold MS, Goh DW
J Paediatr Child Health 2022 Mar;58(3):388-391. Epub 2022 Feb 9 doi: 10.1111/jpc.15900. PMID: 35137488
Morchón R, Carretón E, García R, Zueva T, Kartashev V, Simón F
J Helminthol 2019 Jul 24;94:e67. doi: 10.1017/S0022149X19000464. PMID: 31339092
Aseem F, Pace ST, Onajin O, Sangueza OP, Yeatts RP
Ophthalmic Plast Reconstr Surg 2018 Sep/Oct;34(5):e168-e170. doi: 10.1097/IOP.0000000000001199. PMID: 30124612
Lincoln M, Royer M
Am J Dermatopathol 2016 Aug;38(8):e122-4. doi: 10.1097/DAD.0000000000000546. PMID: 26913848
Kazanowska B, Reich A, Jelen M, Chybicka A
Pediatr Blood Cancer 2008 Apr;50(4):898-900. doi: 10.1002/pbc.21366. PMID: 17914736

Recent systematic reviews

Jung JM, Yang HJ, Won CH, Chang SE, Lee MW, Lee WJ
J Dermatol 2021 Oct;48(10):1499-1510. Epub 2021 Jun 1 doi: 10.1111/1346-8138.15972. PMID: 34060130
Basu S, Shet T, Awasare S
Hell J Nucl Med 2009 Jan-Apr;12(1):51-4. PMID: 19330184

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