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Scleromyxedema

What is Scleromyxedema?

Scleromyxedema (SM) is a rare condition involving excessive deposition of a substance called mucin in connective tissue, in particular in the skin. Scleromyxedema is usually systemic, affecting multiple organ systems and presents with a red or flesh-colored skin eruption.

 

Synonyms

  • Scleromyxedema
  • Arndt-Gottron disease

Scleromyxedema (SM) is a rare condition involving excessive deposition of a substance called mucin in connective tissue, in particular in the skin. Scleromyxedema is usually systemic, affecting multiple organ systems and presents with a red or flesh-colored skin eruption.

Acknowledgement of Scleromyxedema has not been added yet.

SM is a very rare condition, and only 150-250 cases have been reported in the literature. SM affects men and women equally. Most affected individuals are between the ages of 30-70.

Name Abbreviation
Scleromyxedema SM
Arndt-Gottron disease SM

SM occurs due to the excessive deposition of mucin in mid and deep layers of the skin. Mucin is a type of acidic protein that stimulates the production of collagen. Collagen is the main structural protein in the skin and provides support for the skin. Mucin and collagen are both produced by cells called fibroblasts. Fibroblast proliferation is another feature of SM. As a result of the increased production of collagen, the skin thickens and becomes hard, a condition known as fibrosis. 

It is unknown what triggers this mucin deposition. There is some data suggesting that some groups of antiviral drugs such as some hepatitis C drugs might be linked with the development of SM. However, evidence regarding this theory is inconclusive.

 

SM typically presents with skin abnormalities known as papules. Papules are circular, raised areas of the skin that might be red or the same color as the rest of the skin. The papules are often firm and 2-3 mm in diameter. The papules are most commonly found on the face, neck, and upper extremities and might involve large areas of the skin in a linear pattern. The papules particularly tend to group in the forehead and the neck. Over time, the skin may thicken.

Internal organs may also be affected by SM. Symptoms of internal damage include difficulty swallowing food due to an absence of muscular contractions in the esophagus or esophageal aperistalsis. Affected individuals may develop a hoarse voice, experience neurological dysfunctions, eye abnormalities, heart abnormalities, and breathing difficulty. Inflammation of multiple joints (inflammatory polyarthritis) and reduced joint mobility and diseases related to muscular tissue may also be present.

 

The diagnostic criteria for SM include monoclonal gammopathy, the histopathology triad which is mucin deposition in deep layers of the skin, fibroblast proliferation, and fibrosis, as well as the absence of thyroid disease. Monoclonal gammopathy is a condition where a specific type of antibody or defensive protein is abnormal.

 

A skin biopsy may be performed to test the skin for the presence of common abnormalities associated with SM. In a skin biopsy, a piece of the skin is excised out and used for various tests. The skin sample is tested for mucin depositions, excessive collagen, abnormalities in fibroblasts, and other associated findings. 

 

Due to the rarity of this condition, there is no standard treatment for SM. Intravenous immunoglobulin (IVIG) appears to be relatively effective. IVIG is a form of therapy given to individuals with defective antibodies. Immunoglobulins are proteins that make up antibodies. In IVIG, a mixture of antibodies for many healthy donors is administered to affected individuals to treat antibody deficiencies. Thalidomide is a drug that is used to treat a number of cancers and has also been used to treat SM. Additionally, an autologous bone marrow transplant has also been reported as a treatment option. An autologous bone marrow transplant is a procedure in which normal blood-forming cells of the individual are collected and used to replace a defective bone marrow.

 

SM is an unpredictable disease and the prognosis varies. As a progressive condition, individuals’ symptoms worsen over time. If treatment is not successful, the condition can be debilitating and even fatal due to associated complications.

Tips or Suggestions of Scleromyxedema has not been added yet.

Koronowska SK, Osmola-Mańkowska A, Jakubowicz O, Zaba R. Scleromyxedema: a rare disorder and its treatment difficulties. Postepy Dermatol Alergol. 2013 Apr;30(2):122-6. doi: 10.5114/pdia.2013.34165. Epub 2013 Apr 12. PMID: 24278061; PMCID: PMC3834678.

Genetic and Rare Diseases Information Center. Scleromyxedema. 2016. Available from https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema

Salas-Alanis JC, Martinez-Jaramillo B, Gomez-Flores M, Ocampo-Candiani J. Scleromyxedema, a therapeutic dilemma. Indian J Dermatol. 2015 Mar-Apr;60(2):215. doi: 10.4103/0019-5154.152600. PMID: 25814746; PMCID: PMC4372950.

Temelkova I, Patterson JW, Tchernev G. Scleromyxedema (Arndt - Gottron Syndrome) Developing Under Tenofovir Treatment for Hepatitis B: Unique Presentation in a Bulgarian Patient! Open Access Maced J Med Sci. 2019 Feb 28;7(5):782-785. doi: 10.3889/oamjms.2019.181. PMID: 30962839; PMCID: PMC6447340.

 

Community Details Update Created by RareshareTeam
Last updated 20 May 2020, 01:07 AM

Posted by RareshareTeam
20 May 2020, 01:07 AM

Hi everyone,

The Scleromyxedema community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful. 

Survivor's stories Created by ernestdwolfe
Last updated 18 Mar 2013, 07:47 AM

Posted by shar5geo
18 Mar 2013, 07:47 AM

Hi Barb, You should go to scleromyxedema.com to get articles and find answers to your questions. Also, if you are on Facebook, the group is very active there on scleromyxedema. The group is closed and you will be accepted once you apply. Everyone is more than willing to discuss on both sites. My husband has had SMX since 2004 at age 52 and has been treated with Revlimid and Dexamethazone and is in remission but these meds tired him out. He was working during that time but it was not easy. He has other health problems besides SMX and is now on SSID. Thank goodness we have had health insurance through my job! Most members of the group are on IVIG as treatment though so you will hear more about how that is bringing relief to them. Good luck and prayers. Hoping the group can provide the help and direction from their experiences you can use. Sharon George

Posted by barbaraj564666
17 Mar 2013, 10:37 PM

I just wrote a note asking for information on Scleromyxedema. I would like to add my e-mail address. barbaraj564666@gmail.com. If anyone out there can help us with information please contact my e-mail. Thank you, Barb

Posted by barbaraj564666
17 Mar 2013, 10:35 PM

Hi, my name is Barb. My son, Joe, who is 34 was diagnosed with scleromyxedema this year. He has no job and no insurance. He has sores all over his back and fore-arms. He hasn't had any treatment. They gave him prednisone when he had an outbreak of sores but that didn't work for him. The dermatologist we saw did the biopsy and it confirmed scleromyxedema. Without insurance we don't know how to come up with the money to continue any treatment. My husband and I are retired and have limited incomes. Joe just received his CDL license and was hoping to find a job as a truck driver. Joe is extremely tired so much of the time we are wondering if he can hold down a job? No one on this site has said anything about working while having this disease. I would like to know if fatigue is part of the scleromyxedema. Joe doesn't eat much, has no appetite. Are these some symptoms of it. Any information would be greatly appreciated. Thank you, Barb.

View Full Thread (12 more posts)
Monoclonal Gamopathy Created by mahaff
Last updated 30 Sep 2010, 05:43 PM

new to group Created by dnovakowski
Last updated 19 Apr 2010, 11:59 PM

Posted by dnovakowski
19 Apr 2010, 11:59 PM

hello to the group. I am a concerned family member of someone d/x with scleromyxedema. My mom was d/x with the disease back in 2009 after seeing many doctors. Since, her symptoms have gotten drastically worse. It has been recommended that she receive IVIG but her insurance will not pay for it, we are in the process of appealing this. If anyone has any insight we would love to hear your story.

Community External News Link
Title Date Link
Community Resources
Title Description Date Link
Scleromyxedema Support Group

Support group for Scleromyxedema

03/20/2017
Scleromyxedema Survivors

An online resource for survivors of scleromyxedema

03/20/2017

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Community Details Update

Created by RareshareTeam | Last updated 20 May 2020, 01:07 AM

Survivor's stories

Created by ernestdwolfe | Last updated 18 Mar 2013, 07:47 AM

Monoclonal Gamopathy

Created by mahaff | Last updated 30 Sep 2010, 05:43 PM

new to group

Created by dnovakowski | Last updated 19 Apr 2010, 11:59 PM


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