Rare diseases · Sign or symptom
Thickened skin
Thick skin
HP:0001072
What it means
Laminar thickening of skin.
Rare diseases that can present with this69
Very common80–99%
28- Acromegaly
- Bathing suit ichthyosis
- Blepharonasofacial malformation syndrome
- Chronic graft versus host disease
- Corneodermatoosseous syndrome
- Dahlberg-Borer-Newcomer syndrome
- Dermatofibrosarcoma protuberans
- Dermatoleukodystrophy
- Frank-Ter Haar syndrome
- Global developmental delay-osteopenia-ectodermal defect syndrome
- Infantile systemic hyalinosis
- Leri pleonosteosis
- Lipodystrophy due to peptidic growth factors deficiency
- Lipoid proteinosis
- Localized scleroderma
- Mucolipidosis type II
- Multiple benign circumferential skin creases on limbs
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Neurocutaneous melanocytosis
- Pachydermoperiostosis
- Palmoplantar keratoderma-spastic paralysis syndrome
- Parana hard skin syndrome
- Progressive non-infectious anterior vertebral fusion
- Proteus syndrome
- Somatomammotropinoma
- Stiff skin syndrome
- Systemic sclerosis
- Xeroderma pigmentosum
Common30–79%
23- 17q11microdeletion syndrome
- Absence of fingerprints-congenital milia syndrome
- Alazami syndrome
- Benign Samaritan congenital myopathy
- Congenital erythropoietic porphyria
- Darier disease
- Diffuse cutaneous mastocytosis
- Dysplastic cortical hyperostosis, Al-Gazali type
- Geleophysic dysplasia
- GM1 gangliosidosis
- Menkes disease
- Mucolipidosis type III alpha/beta
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Myalgia-eosinophilia syndrome associated with tryptophan
- Myhre syndrome
- Oculocutaneous albinism type 4
- Omenn syndrome
- Pityriasis rubra pilaris
- POEMS syndrome
- Scleromyxedema
- Transgrediens et progrediens palmoplantar keratoderma
- Weill-Marchesani syndrome
- X-linked acrogigantism
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: Diffusely thickened skin · Pachydermia
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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.