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) |
FCAS3 | |||||||||||||
ALDD | |||||||||||||
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 | ||||||