In the following list you will find some of the most common rare diseases related to Arthritis and Cutaneous photosensitivity that can help you solving undiagnosed cases.
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle
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SOURCES: OMIM ORPHANET MENDELIAN
More info about SYSTEMIC LUPUS ERYTHEMATOSUSJuvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by Bailey et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.
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Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (OMIM ) and JME (OMIM ), respectively.
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Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp
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Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda|trichothiodystrophy, complementation group a
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Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by Yien et al., 2017)For discussion of genetic heterogeneity of EPP, see EPP1 (OMIM ).
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Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).
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Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.
HEPATOERYTHROPOIETIC PORPHYRIA Is also known as hep
Related symptoms:
Symptoms // Phenotype | % cases |
---|---|
Seizures | Uncommon - Between 30% and 50% cases |
Hemolytic anemia | Rare - less than 30% cases |
Congenital cataract | Rare - less than 30% cases |
Febrile seizures | Rare - less than 30% cases |
Absence seizures | Rare - less than 30% cases |
Patients with Arthritis and Cutaneous photosensitivity. may also develop some of the following symptoms:
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