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Table 2 Clinical features of rare recently recognized monogenic autoinflammatory diseases

From: The expanding spectrum of rare monogenic autoinflammatory diseases

OMIM ORPHA-CODE Disease acronyme Disease extended name* Synonyms Age at onset Key symptoms Differential diagnosis Treatment
612373 168569 254707 254712 254723 H Syndrome Histiocytosis-lymphadenopathy plus syndrome PHID Pigmentary Hypertrichosis and non-autoimmune Insulin-dependent Diabetes mellitus FHC Faisalabad Histiocytosis SHML Sinus Histiocytosis with Massive Lymphadenopathy Infancy Histiocytosis FCAS2 NSAID (IL-1 and TNF blockades not effective)
Other causes of insulin-dependent diabetes
611762 247868 FCAS2 Familial Cold Autoinflammatory Syndrome 2 NAPS12 NLRP12 Associated Periodic Syndrome NLRP12AD NLRP12-associated disorder    Infancy Childhood Adulthood Urticaria, fever, myalgia, arthralgia FCAS1 FCAS3 NSAID (IL-1 blockades not effective)
612852 210115 OMPP Osteomyelitis, sterile Multifocal, with Periostitis and Pustulosis DIRA Deficiency of Interleukin 1 Receptor Antagonist      Neonatal Neutrophilic pustular dermatosis, periostitis, aseptic multifocal osteomyelitis PSORP Other dermatologic and infectious conditions IL1 blockades (NSAID not effective)
614204 247353 PSORP Pustular Psoriasis, Generalized DITRA Deficiency of Interleukin 36 Receptor Antagonist GPP Generalized Pustular Psoriasis    Infancy, Childhood, Adulthood Diffuse erythematous pustular rash, fever, malaise and diffuse pain, systemic inflammation OMPP Other autoinflammatory diseases NSAID, Vitamin D3, Acitretin, TNF and IL-1 blockades
602723 NA PSORS2 Psoriasis susceptibility 2        Variable Round, well circumscribed erythematous plaques covered by a thick silver scale with a predilection for elbows, knees, scalp, lumbosacral and anogenital regions Other papulosquamous disorders Corticosteroids, calcineurin inhibitor, calcipotriene, emollients, keratolytic agents, ultraviolet light, retinoids, methotrexate, cyclosporine, anti-TNF agents
173200 2897 PRP Pityriasis Rubra Pilaris        Neonatal Early childhood Small keratotic follicular papules, disseminated salmon-colored scaly plaques surrounding islands of normal skin, diffuse red-orange palmoplantar keratoderma Phrynoderma (vitamin A deficiency), psoriasis, erythrokeratodermia, other causes of cornification Emollients, topical corticosteroids, tazarotene, keratolytic agents, calcineurin inhibitor, systemic retinoids, TNFα blocking agents
175900 79152 POROK3 Porokeratosis 3, Disseminated Superficial Actinic Type DSAP Disseminated Superficial Actinic Porokeratosis      Adult UV sensitive, Epidermal cornification, round and brownish lesions Neoplastic or hyperplastic squamous proliferations Cryotherapy, topical reagents, electrodessication, laser ablation, photodynamic therapy
256040 2615 ALDD Autoinflammation, LipoDystrophy, and Dermatosis syndrome JMP Joint contractures, muscle atrophy, Microcytic anemia, and Panniculitis-induced lipodystrophy syndrome. NNS Nakajo-Nishimura Syndrome CANDLE Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature syndrome Neonatal Fever, skin rash, panniculitis, lipoatrophy Still’s disease, CINCA, mucopolysaccharidosis, lupus, dermatomyositis, laminopathies, Aicardi Goutieres syndrome NSAID, Interferon γ, JAK inhibitors?
614878 324530 APLAID Autoinflammation, antibody deficiency, and immune dysregulation syndrome        ND Neutrophilic skin lesions, IBD, recurrent sino pulmonary infections Other immunodeficiencies, IBD, PLAID ND
NA 329173 NA Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis        ND ND ND ND
  1. *Approved OMIM; NA Not assigned yet; ND: too few patients to delineate clear criteria. Commonly used disease names are in bold text.
  2. NSAID: nonsteroidal anti-inflammatory drugs.
  3. CINCA: Chronic, Infantile, Neurologic, Cutaneous and Articular syndrome, IBD: inflammatory bowel disease, PLAID: PLCg2-Associated antibody Deficiency.