pachyonychia congenita
ICD-10: Q84.5MeSH: D053549ORPHA: 2309
Overview
rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with pachyonychia congenita, sourced from HPO and Orphanet clinical annotations.
Palmoplantar keratodermaPalmoplantar blisteringOnychogryphosis of toenailsNail dystrophyLower limb painHyperplastic callus formationOral leukoplakiaPalmoplantar hyperhidrosisLinear arrays of macular hyperkeratoses in flexural areasFollicular hyperkeratosisPalmar hyperkeratosisSteatocystoma multiplexCutaneous cystOnychogryphosis of fingernailFingernail dysplasiaEpidermoid cystNatal toothFailure to thriveParonychiaAdvanced eruption of teethFeeding difficultiesEruptive vellus hair cystEar painAlopeciaHoarse voiceRespiratory distressAngular cheilitis
Classification & Codes
ICD-10 Code
Q84.5MeSH Code
D053549Orphanet Code
ORPHA:2309pachyonychia congenita
| ICD-10 | Q84.5 |
| MeSH | D053549 |
| Orphanet | ORPHA:2309 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO