Rare diseases · Sign or symptom
Subcutaneous nodule
Firm lump under the skin
HP:0001482
What it means
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below.
Rare diseases that can present with this82
Very common80–99%
41- Adiposis dolorosa
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Behçet disease
- Cutaneous mastocytosis-deafness-microtia syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Dermatofibrosarcoma protuberans
- Desmoid tumor
- Dissecting cellulitis of the scalp
- Dracunculiasis
- Encephalocraniocutaneous lipomatosis
- Eosinophilic fasciitis
- Fabry disease
- Familial cylindromatosis
- Familial keratoacanthoma
- Familial multiple trichoepithelioma
- Familial tumoral calcinosis
- Felty syndrome
- Fibrodysplasia ossificans progressiva
- Infantile myofibromatosis
- Infantile systemic hyalinosis
- Insulin-resistance syndrome type A
- Juvenile hyaline fibromatosis
- Lipoid proteinosis
- Liposarcoma
- Malakoplakia
- Myxoid/round cell liposarcoma
- Neurofibromatosis type 1
- Nodular non-suppurative panniculitis
- Pai syndrome
- Pilomatrixoma
- Pleomorphic liposarcoma
- Progressive nodular histiocytosis
- Progressive osseous heteroplasia
- Proteus syndrome
- Pyomyositis
- Rheumatic fever
- Roch-Leri mesosomatous lipomatosis
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Syringocystadenoma papilliferum
- Well-differentiated liposarcoma
Common30–79%
17- Bannayan-Riley-Ruvalcaba syndrome
- Bazex-Dupré-Christol syndrome
- Blue rubber bleb nevus syndrome
- Chromomycosis
- Chylous ascites
- Cowden syndrome
- Focal dermal hypoplasia
- Fountain syndrome
- Ledderhose disease
- Leri pleonosteosis
- Maffucci syndrome
- Multicentric osteolysis-nodulosis-arthropathy spectrum
- Mycetoma
- Ollier disease
- Rhabdoid tumor
- Scedosporiosis
- Townes-Brocks syndrome
Sometimes5–29%
22- 12q14microdeletion syndrome
- Acute monoblastic/monocytic leukemia
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Cutaneous small vessel vasculitis
- Dystrophic epidermolysis bullosa pruriginosa
- Eosinophilic granulomatosis with polyangiitis
- Frontofacionasal dysplasia
- Fusariosis
and 14 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Growth of abnormal tissue under the skin · Multiple, subcutaneous nodules · Nodule below the skin · Subcutaneous nodules
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.