Rare diseases · Sign or symptom
Skin ulcer
Open skin sore
HP:0200042
What it means
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Rare diseases that can present with this98
Very common80–99%
24- ADULT syndrome
- Attenuated Chédiak-Higashi syndrome
- Atypical Werner syndrome
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Buerger disease
- Calciphylaxis
- Chronic mucocutaneous candidiasis
- Combined immunodeficiency due to DOCK8 deficiency
- Cryoglobulinemic vasculitis
- Dermatoosteolysis, Kirghizian type
- Dracunculiasis
- Familial keratoacanthoma
- Infantile systemic hyalinosis
- Laryngo-onycho-cutaneous syndrome
- Leishmaniasis
- Livedoid vasculopathy
- Malakoplakia
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- Non-syndromic agammaglobulinemia
- PAPA syndrome
- Prolidase deficiency
- Proliferating trichilemmal cyst
- Pyoderma gangrenosum
- X-linked agammaglobulinemia
Common30–79%
31- Acrodermatitis enteropathica
- Adult polyglucosan body disease
- Aplasia cutis congenita
- Beta-thalassemia intermedia
- Cervical hypertrichosis-peripheral neuropathy syndrome
- Chilblain lupus
- Dermatofibrosarcoma protuberans
- Dermatomyositis
- Diffuse cutaneous systemic sclerosis
- Diffuse palmoplantar keratoderma, Bothnian type
- Dyskeratosis congenita
- Flynn-Aird syndrome
- Free sialic acid storage disease
- Hereditary acrokeratotic poikiloderma
- Hereditary sensory and autonomic neuropathy type 1
- Hyperkeratosis lenticularis perstans
- Immunoglobulin A vasculitis
- Juvenile dermatomyositis
- Juvenile hyaline fibromatosis
- Lichen planopilaris
- Limited cutaneous systemic sclerosis
- Microscopic polyangiitis
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Necrobiosis lipoidica
- Pemphigus vegetans
- Plague
- Reynolds syndrome
- Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- Subcutaneous panniculitis-like T-cell lymphoma
- Takayasu arteritis
- Werner syndrome
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
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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.