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Arthritis mutilans is a rare medical condition involving severe inflammation damaging the joints of the hands and feet, and resulting in deformation and problems with moving the affected areas; it can also affect the spine. As an uncommon
arthropathy An arthropathy is a disease of a joint. Types Arthritis is a form of arthropathy that involves inflammation of one or more joints, while the term arthropathy may be used regardless of whether there is inflammation or not. Joint diseases can be c ...
, arthritis mutilans was originally described as affecting the hands, feet, fingers, and/or toes, but can refer in general to severe derangement of any joint damaged by arthropathy. First described in modern medical literature by Marie and Leri in 1913, in the hands, arthritis mutilans is also known as opera glass hand (''la main en lorgnette'' in French), or chronic absorptive arthritis. Sometimes there is foot involvement in which toes shorten and on which painful calluses develop in a condition known as opera glass foot, or ''pied en lorgnette''.


Signs and symptoms

For a person with arthritis mutilans in the hands, the fingers become shortened by
arthritis Arthritis is a term often used to mean any disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, swelling, and decreased range of motion of the affected joints. In some ...
, and the shortening may become severe enough that the hand looks paw-like, with the first deformity occurring at the interphalangeal and
metacarpophalangeal joint The metacarpophalangeal joints (MCP) are situated between the metacarpal bones and the proximal phalanges of the fingers. These joints are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cav ...
s. The excess skin from the shortening of the
phalanx bone The phalanges (singular: ''phalanx'' ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bon ...
s becomes folded transversely, as if retracted into one another like
opera glasses Opera glasses, also known as theater binoculars or Galilean binoculars, are compact, low-power optical magnification devices, usually used at performance events, whose name is derived from traditional use of binoculars at opera performances. Mag ...
, hence the description ''la main en lorgnette''. As the condition worsens,
luxation A joint dislocation, also called luxation, occurs when there is an abnormal separation in the joint, where two or more bones meet.Dislocations. Lucile Packard Children’s Hospital at Stanford. Retrieved 3 March 2013 A partial dislocation is refe ...
, phalangeal and
metacarpal In human anatomy, the metacarpal bones or metacarpus form the intermediate part of the skeletal hand located between the phalanges of the fingers and the carpal bones of the wrist, which forms the connection to the forearm. The metacarpal bones ar ...
bone absorption, and skeletal architecture loss in the fingers occurs.


Cause

Arthritis mutilans occurs mainly in people who have pre-existing
psoriatic arthritis Psoriatic arthritis is a long-term inflammatory arthritis that occurs in people affected by the autoimmune disease psoriasis. The classic feature of psoriatic arthritis is swelling of entire fingers and toes with a sausage-like appearance. Th ...
, but can occur, if less often, in advanced rheumatoid arthritis; it can also occur independently. Psoriasis and psoriatic arthritis are interrelated heritable diseases, occurring with greater heritable frequency than
rheumatoid arthritis Rheumatoid arthritis (RA) is a long-term autoimmune disorder that primarily affects joints. It typically results in warm, swollen, and painful joints. Pain and stiffness often worsen following rest. Most commonly, the wrist and hands are invol ...
, primary
Sjögren syndrome Sjögren syndrome or Sjögren's syndrome (SjS, SS) is a long-term autoimmune disease that affects the body's moisture-producing (lacrimal and salivary) glands, and often seriously affects other organ systems, such as the lungs, kidneys, and ner ...
and thyroid disease. Psoriasis affects 2–3% of the Caucasian population, and psoriatic arthritis affects up to 30% of those. Arthritis mutilans presents in about 5–16% of psoriatic arthritis cases, involves
osteolysis Osteolysis is an active resorption of bone matrix by osteoclasts and can be interpreted as the reverse of ossification. Although osteoclasts are active during the natural formation of healthy bone the term "osteolysis" specifically refers to a path ...
of the DIP and PIP joints, and can include bone
edema Edema, also spelled oedema, and also known as fluid retention, dropsy, hydropsy and swelling, is the build-up of fluid in the body's tissue. Most commonly, the legs or arms are affected. Symptoms may include skin which feels tight, the area ma ...
, bone erosions, and new bone growth. Most often psoriatic arthritis is seronegative for rheumatoid factor (occurring in only about 13% of cases), and has genetic risk factor overlap with
ankylosing spondylitis Ankylosing spondylitis (AS) is a type of arthritis characterized by long-term inflammation of the joints of the spine typically where the spine joins the pelvis. Occasionally areas affected may include other joints such as the shoulders or hip ...
with HLA-B27, IL-23R77, and
IL-1 IL-1 may refer to: * Interleukin 1, a protein * Illinois's 1st congressional district * Illinois Route 1 * Building 1 of Infinite Loop (street) The Apple Campus is the former corporate headquarters of Apple Inc. from 1993 until 2017, when it ...
, however, as of 2016, immunopathogenesis is unclear.


Diagnosis

Enthesitis can assist in differentiating arthritis mutilans' parent condition psoriatic arthritis from rheumatoid arthritis and
osteoarthritis Osteoarthritis (OA) is a type of degenerative joint disease that results from breakdown of joint cartilage and underlying bone which affects 1 in 7 adults in the United States. It is believed to be the fourth leading cause of disability in the ...
, with evidence in plain radiographs (x-rays) and
MRI Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio wave ...
as
periostitis Periostitis, also known as periostalgia, is a medical condition caused by inflammation of the periosteum, a layer of connective tissue that surrounds bone. The condition is generally chronic, and is marked by tenderness and swelling of the bone ...
, new bone formation, and bone erosions. Dactylitis, spondylitis and
sacroiliitis Sacroiliitis is inflammation within the sacroiliac joint. It is a feature of spondyloarthropathies, such as axial spondyloarthritis (including ankylosing spondylitis), psoriatic arthritis, reactive arthritis or arthritis related to inflammatory ...
are common with the parent condition psoriatic arthritis, but are not in rheumatoid arthritis. MRI bone edema scores are high in arthritis mutilans and correlate with radiographic measures of joint damage, although they may not correlate with disease activity. A source of significant pain, bone marrow edema (or lesions, using newer terminology), can be detected on MRI or with ultrasonography by signals of excessive water in bone marrow. Specifically, bone marrow edema can be detected within bone on T1-weighted images as poorly defined areas of low signal, with a high signal on
T2-weighted Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves ...
fat-suppressed images. Comparatively, with arthritis mutilans in ''rheumatoid arthritis'', bone marrow edema often involves the subchondral bone layer, while the condition as a subtype of ''psoriatic arthritis'' includes a greater extent of marrow edema, expanding to
diaphysis The diaphysis is the main or midsection (shaft) of a long bone. It is made up of cortical bone and usually contains bone marrow and adipose tissue (fat). It is a middle tubular part composed of compact bone which surrounds a central marrow cavit ...
.


Treatment


Medication

The bone edema in arthritis mutilans can be treated with
TNF inhibitor A TNF inhibitor is a pharmaceutical drug that suppresses the physiologic response to tumor necrosis factor (TNF), which is part of the inflammatory response. TNF is involved in autoimmune and immune-mediated disorders such as rheumatoid arthritis, ...
s in the short term: a 2007 study found that the bone edema associated with psoriatic arthritis (of which arthritis mutilans is a subtype) responded to TNF inhibitors with "dramatic" improvement, but the study was not determinative of whether TNF inhibitors would prevent new bone formation, bone fusion, or osteolysis (
bone resorption Bone resorption is resorption of bone tissue, that is, the process by which osteoclasts break down the tissue in bones and release the minerals, resulting in a transfer of calcium from bone tissue to the blood. The osteoclasts are multi-nuc ...
).


Surgical

Although a 2011 research article stated that disagreements between hand surgeons and rheumatologists remain regarding the indications, timing and effectiveness of rheumatoid hand surgery, arthritis mutilans may be successfully treated by iliac-
bone graft Bone grafting is a surgical procedure that replaces missing bone in order to repair bone fractures that are extremely complex, pose a significant health risk to the patient, or fail to heal properly. Some small or acute fractures can be cured wi ...
and
arthrodesis Arthrodesis, also known as artificial ankylosis or syndesis, is the artificial induction of joint ossification between two bones by surgery. This is done to relieve intractable pain in a joint which cannot be managed by pain medication, sp ...
of the interphalangeal joints and the metacarpophalangeal joint in each finger.


Outcomes

Arthritis mutilans' parent condition psoriatic arthritis leaves people with a mortality risk 60% higher than the general population, with premature death causes mirroring those of the general population, cardiovascular issues being most common. Life expectancy for people with psoriatic arthritis is estimated to be reduced by approximately 3 years.


References


External links

{{Medicine Rheumatology Arthritis Autoimmune diseases