Arthritis, and Scarring

Diseases related with Arthritis and Scarring

In the following list you will find some of the most common rare diseases related to Arthritis and Scarring that can help you solving undiagnosed cases.


Top matches:

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Low match MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1


Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Related symptoms:

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

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Other less relevant matches:

Low match MELORHEOSTOSIS


Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Low match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Low match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Low match PROGRESSIVE OSSEOUS HETEROPLASIA


Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.

PROGRESSIVE OSSEOUS HETEROPLASIA Is also known as familial ectopic ossification|ectopic ossification, familial|poh|osteoma cutis

Related symptoms:

  • Scoliosis
  • Growth delay
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROGRESSIVE OSSEOUS HETEROPLASIA

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Top 5 symptoms//phenotypes associated to Arthritis and Scarring

Symptoms // Phenotype % cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Atrophic scars Uncommon - Between 30% and 50% cases
Papule Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Scarring. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Arthralgia Bruising susceptibility Growth delay Hyperextensible skin

Rare Symptoms - Less than 30% cases


Ectopic ossification in muscle tissue Skeletal muscle atrophy Abnormality of the vasculature Joint swelling Nevus Abnormality of the skeletal system Failure to thrive Bone pain Joint hypermobility Neoplasm Fever Inguinal hernia Umbilical hernia Cataract Fragile skin Hallux valgus Limitation of joint mobility Hip dislocation Joint dislocation Pes planus Osteoporosis Hernia Hypertension Edema Micrognathia Cirrhosis Fatigue Comedo Follicular hyperkeratosis Abnormality of the liver Abnormality of the cardiovascular system Joint laxity Osteopenia Excessive wrinkled skin Mitral valve prolapse Shoulder dislocation Subcutaneous hemorrhage Webbed neck Ventral hernia Macrotia Narrow palate Short neck Kyphosis Respiratory insufficiency Diarrhea Splenomegaly Hyperhidrosis Hyperkeratosis Low posterior hairline Poor wound healing Hyperlordosis Wormian bones Knee dislocation Thin eyebrow Thoracic scoliosis Joint hyperflexibility Recurrent fractures Blue sclerae Congenital hip dislocation Delayed gross motor development Gastroesophageal reflux Bilateral ptosis Soft skin Hyperextensibility of the finger joints Redundant skin Photophobia Squared iliac bones Cutis laxa Hepatosplenomegaly Numerous nevi Autoimmunity Hypermelanotic macule Skin rash Short metacarpal Subcutaneous nodule Thickened skin Sarcoma Short metatarsal Melanocytic nevus Macule Brachydactyly Celiac disease Abnormality of the musculature Ankylosis Calcinosis Abnormality of the parathyroid gland Constrictive median neuropathy Ectopic ossification Pseudohypoparathyroidism Obesity Punctate keratitis Ectopic calcification Keratoconjunctivitis sicca Ptosis Cryptorchidism Hemolytic anemia Epidermal acanthosis Chronic diarrhea Keratitis Autoimmune hemolytic anemia Thyroiditis Abnormal facial shape Polyarticular arthritis Uveitis Osteoma cutis Antinuclear antibody positivity Villous atrophy Osteoma Corneal neovascularization Increased IgA level Talipes equinovarus Dry skin Periodontitis Depressed nasal bridge Stroke Abnormality of the pancreas Hypochromic microcytic anemia Hypochromic anemia Atransferrinemia Visual impairment Blindness Visual loss Reduced visual acuity Hypopigmentation of the skin Pallor Progressive visual loss Macular degeneration Emphysema Gout Drusen Choroidal neovascularization Geographic atrophy Macular drusen Microcytic anemia Hypothyroidism Foveal hypopigmentation Aplasia/Hypoplasia of the skin Alopecia Erythema Hypotrichosis Ichthyosis Inflammatory abnormality of the skin Sparse eyebrow Spinal muscular atrophy Epiphora Atopic dermatitis Pneumonia Absent eyelashes Abnormal eyebrow morphology Folliculitis Sunken cheeks Abnormal perifollicular morphology Hepatomegaly Congestive heart failure Recurrent infections Polypoidal choroidal vasculopathy Macular hemorrhage Muscle weakness Abdominal pain Nephroblastoma Gingival bleeding Premature loss of teeth Pectus excavatum Gingival recession Respiratory distress Cardiomyopathy Arrhythmia Hepatic steatosis Irritability Hepatic fibrosis Glucose intolerance Impotence Generalized hyperpigmentation Increased serum ferritin Congenital hepatic fibrosis Short stature Generalized hypotonia Lymphoma Osteopoikilosis Flexion contracture Growth abnormality Dilatation Skeletal dysplasia Joint stiffness Abnormality of the foot Lymphedema Increased bone mineral density Cranial nerve paralysis Hemangioma Dermal atrophy Subcutaneous calcification Hyperostosis Scleroderma Atypical scarring of skin Lower limb asymmetry Lack of skin elasticity Prominent superficial veins Chronic pain Upper limb asymmetry Peripheral arteriovenous fistula Bursitis



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