PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

Table 1 A summary of the clinical phenotypes of PSTPIP1-associated inflammatory diseases (PAID)

	Cutaneous inflammation	Pyoderma gangrenosum	Acne	Hepato-splenomegaly	Lymphadenopathy	Failure to thrive	Hidradenitis supportiva	Arthritis	Ankylosing spondylitis	Ulcerative colitis
Pyogenic arthiritis, pyoderma gangrenosum (PAPA) syndrome	Yes	Yes	Yes	··	··	··	··	Yes	··	··
PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome	Yes	··	··	Yes	Yes	Yes	··	··	··	··
Pyoderma gangrenosum, acne vulgaris and hidradenitis suppurativa (PASH) syndrome	··	Yes	Yes	··	··	··	Yes	··	··	··
Pyogenic arthritis, pyoderma gangrenosum, acne vulgaris and hidradenitis suppurativa (PAPASH) syndrome	··	Yes	Yes	··	··	··	Yes	Yes	··	··
Pyoderma gangrenosum, acne vulgaris, hidradenitis suppurativa and ankylosing spondylitis (PASS) syndrome	··	Yes	··	··	··	··	Yes	··	Yes	··
Pyoderma gangrenosum, acne vulgaris and ulcerative colitis (PAC) syndrome	··	Yes	Yes	··	··	··	··	··	··	Yes
Psoriatic arthritis, pyoderma gangrenosum, acne vulgaris and hidradenitis suppurativa (PsAPASH) syndrome	··	Yes	Yes	··	··	··	Yes	Yes	··	··

Genovese G, Moltrasio C, Garcovich S, Marzano AV. PAPA spectrum disorders. G Ital Dermatol Venereol. 2020 Jul 2. https://doi.org/10.23736/S0392-0488.20.06629-8

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