Arthritis, and Inflammatory abnormality of the skin

Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.

PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS Is also known as psoriasis-related jia|juvenile psoriatic arthritis

• Arthritis
• Autoimmunity
• Inflammatory abnormality of the skin
• Psoriasiform dermatitis
• Juvenile rheumatoid arthritis

SOURCES: OMIM ORPHANET MENDELIAN

Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.

• Hyperkeratosis
• Arthralgia
• Arthritis
• Skin rash
• Overgrowth

SOURCES: MESH OMIM ORPHANET MENDELIAN

• Fever
• Hyperkeratosis
• Arthralgia
• Arthritis
• Ichthyosis

SOURCES: OMIM MENDELIAN

Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996).Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (OMIM ) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis. Genetic Heterogeneity of Psoriasis and Psoriasis SusceptibilityPSORS2 (OMIM ) is caused by mutation in the CARD14 gene (OMIM ) on chromosome 17q25, and PSORS14 (OMIM ) is caused by mutation in the IL36RN gene (OMIM ) on chromosome 2q14.Psoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 (OMIM ) on 4q; PSORS4 on 1q21; PSORS5 (OMIM ) on 3q21; PSORS6 (OMIM ) on 19p; PSORS7 (OMIM ) on 1p; PSORS8 (OMIM ) on 16q; PSORS9 (OMIM ) on 4q31; PSORS10 (OMIM ) on 18p11; PSORS11 (OMIM ) on 5q31-q33; PSORS12 (OMIM ) on 20q13; PSORS13 (OMIM ), conferred by variation in the TRAF3IP2 gene (OMIM ) on 6q21; and PSORS15 (OMIM ), conferred by variation in the AP1S3 gene (OMIM ) on 2q36.An additional putative psoriasis candidate locus has been reported on 20p (Nair et al., 1997).

• Fever
• Arthritis
• Skin rash
• Scaling skin
• Psoriasiform dermatitis

SOURCES: OMIM MENDELIAN

PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE Is also known as papas|familial recurrent arthritis|papa syndrome|fra

• Diabetes mellitus
• Arthritis
• Proteinuria
• Type I diabetes mellitus
• Acne

SOURCES: OMIM MENDELIAN

Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.

HYPERZINCEMIA AND HYPERCALPROTECTINEMIA Is also known as recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome|albumin binding of zinc, elevated|hyperzincemia, familial dysalbuminemic

• Growth delay
• Anemia
• Recurrent infections
• Abnormality of metabolism/homeostasis
• Hepatosplenomegaly

SOURCES: OMIM ORPHANET MENDELIAN

Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

• Neoplasm
• Anemia
• Arthritis
• Leukemia
• Asthma

SOURCES: ORPHANET OMIM MENDELIAN

COMPLEMENT COMPONENT 7 DEFICIENCY; C7D Is also known as c7 deficiency

• Fever
• Arthritis
• Telangiectasia
• Meningitis
• Vasculitis

SOURCES: OMIM MESH MENDELIAN

• Arthritis
• Abnormality of the nervous system
• Cutaneous photosensitivity
• Spontaneous abortion
• Systemic lupus erythematosus

SOURCES: OMIM MENDELIAN

Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.

COMPLEMENT COMPONENT C1R/C1S DEFICIENCY Is also known as c1r/c1s deficiency

• Arthralgia
• Arthritis
• Autoimmunity
• Nephritis
• Recurrent bronchitis

SOURCES: OMIM MENDELIAN