NLRP1-pEDD
Previously: Familial keratosis lichenoides chronica
Key Clinical Clues
Multiple very painful hyperkeratotic nodules on plantar and palmar skin together with itchy lichenoid papules; nodules can ulcerate and resemble keratoacanthomas.
Additional Cutaneous Features
Itchy lichenoid papules on the arms, legs and lower trunk, palmoplantar nodules can ulcerate and resemble keratoacanthomas and regress spontaneously (over palms), occasionally SCC (squamous cell carcinoma)
Additional Extracutaneous Features
Hoarseness caused by laryngeal dyskeratosis, inflammatory conjunctivitis
References
Zhong FL, Mamai O, Sborgi L et al. Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation. Cell 2016; 167:187-202.
Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer
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