About pure cutaneous histiocytosis

What is pure cutaneous histiocytosis?

Langerhans cell histiocytosis (LCH) is a spectrum of rare disorders characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the various tissues and organs of the body (lesions). The lesions may include certain distinctive Langerhans cells involved in certain immune responses, as well as other white blood cells (e.g.,lymphocytes, monocytes, eosinophils). Associated symptoms and findings may vary from case to case, depending upon the specific tissues and organs affected and the extent of involvement. Most often the bone lesions are painful. Skin rashes may itch or cause painful ulcers especially under the arms or groin area. The pathogenesis (medical cause) is not clearly understood and an ongoing debate continues regarding its cause as a reactive immunologic or neoplastic (cancer-like) process. No infectious agent (virus, bacteria, or fungus) has been associated with LCH. Patients often have a strong family history of immune diseases such as thyroid disease, arthritis, or lupus.

Most affected individuals have single or multiple bone lesions characterized by lytic lesions (holes in the bones). Although the skull is most commonly affected, there may also be involvement of other bones, such as those of the spine (vertebrae) and the long bones of the arms and legs. Affected individuals may have no apparent symptoms (asymptomatic), or may experience associated pain and swelling, and/or develop certain complications, such as fractures or secondary compression of the spinal cord. Other organs may also be affected, including the skin, lungs, liver, spleen, bone marrow, thymus, thyroid,intestines and brain. In some individuals, LCH may be associated with involvement of the pituitary gland leading to diabetes insipidus, growth failure, hypothyroidism, or insufficitne production of sex hormones.

Langerhans cell histiocytosis was selected by the Histiocyte Society to replace the older, less specific term histiocytosis X. Histiocytosis X encompassed three entities known as eosinophilic granuloma, Hand-Schuller-Christian disease, and Letterer-Siwe disease that were characterized by the accumulation of histiocytes. The "X" denoted that the cause and development of the disorder was not understood. Langerhans cell histiocytosis was chosen because it seemed that the Langerhans cells might play a central role in the development of these disorders. However, new research (Allen 2010) has shown that the skin Langerhans cell is not the cell of origin, but a myeloid dendritic cell.

What are the symptoms for pure cutaneous histiocytosis?

Multiple painful lesions on the surface of the skin symptom was found in the pure cutaneous histiocytosis condition

Pure cutaneous histiocytosis is a general name for a group of disorders or "syndromes" that involve an abnormal increase in the number of specialized white blood cells that are called histiocytes.
Recently, new knowledge about this family of diseases has led experts to develop a new classification. Five categories have been proposed:

  • L group -- includes Langerhans cell histiocytosis and Erdheim-Chester disease
  • C group -- includes non-Langerhans cell histiocytosis that involves the skin
  • Common symptoms- sloping edges and crusting over the chin with multiple, crusted perioral ulcers arranged around the margins of the lips and minimal, erythematous, crusted erosions over bilateral axillae, groins, and scalp. It is also associated with painful oral ulcers.
  • Langerhans cells function as part of the immune system and help fight infection, but when Langerhans cells proliferate uncontrollably, they can accumulate in body tissues, causing damage or the formation of a lesion.
  • LCH can arise anywhere in the body, but is found most often in the bones, including the skull and—very rarely—the spine. Other common locations include the skin, spleen, lungs, liver, and pituitary gland.
  • LCH may appear either as a single lesion or multiple lesions. When LCH involves the central nervous system, disease is usually also found elsewhere in the body
  • Langerhans cell histiocytosis is a rare disorder that can affect people of all ages. The highest rate is among children ages 5 to 10.
  • Some forms of the disorder are genetic, which means they are inherited.


Symptoms
Multiple painful Lesions on the surface of the skin
Conditions
Sloping edges and crusting over the chin with multiple,Crusted perioral ulcers arranged around the margins of the lips and minimal,Erythematous,Crusted erosions over bilateral axillae, groins, and scalp
Drugs
Interferon alpha,Cyclophosphamide or vinblastine,Etoposide,Methotrexate

What are the causes for pure cutaneous histiocytosis?

Pure cutaneous histiocytosis or Langerhans cell histiocytosis (LCH) is a group of rare disorders all characterized by the overproliferation of Langerhans cells.

  • LCH is a group of idiopathic histiocytic disorders including a wide spectrum of diseases with different clinical features and prognosis, whose classification into separate entities, namely, Letterer–Siwe disease, Hand–Schuller–Christian disease, and Hashimoto–Pritzker disease.
  • Normally, Langerhans cells function as part of the immune system and help fight infection, but when Langerhans cells proliferate uncontrollably, they can accumulate in body tissues, causing damage or the formation of a lesion.
  • LCH can arise anywhere in the body, but is found most often in the bones, including the skull and—very rarely—the spine. Other common locations include the skin, spleen, lungs, liver, and pituitary gland.
  • LCH may appear either as a single lesion or multiple lesions. When LCH involves the central nervous system, the disease is usually also found elsewhere in the body.
  • Rather than referring to a single disorder, LCH describes a spectrum of diseases whose characteristics and relationships continue to be studied.
  • Treatment for this condition varies and usually includes a combination of chemotherapy, radiation therapy, corticosteroids, and surgery. Some patients may not need any intervention beyond close monitoring.


Symptoms
Multiple painful lesions on the surface of the skin
Conditions
Sloping edges and crusting over the chin with multiple,Crusted perioral ulcers arranged around the margins of the lips and minimal,Erythematous,Crusted erosions over bilateral axillae, groins, and scalp
Drugs
Interferon alpha,Cyclophosphamide or vinblastine,Etoposide,Methotrexate

What are the treatments for pure cutaneous histiocytosis?

People with pure cutaneous histiocytosis that involves only a single area (such as bone or skin) may be treated with local surgery. However, they will need to be followed closely to look for signs that the disease has spread.

  • People with widespread Langerhans cell histiocytosis or Erdheim-Chester disease require medicines to reduce symptoms and control the spread of the disease.
  • Recent studies show that nearly all adults with widespread histiocytosis have gene mutations in the tumors, which appear to cause the disorder.
  • Medications that inhibit these gene mutations, such as vemurafenib, are currently available. Other similar drugs are also in development.
  • Langerhans cell histiocytosis and Erdheim-Chester disease are very rare disorders. Therefore there is limited information about the best course of treatment.
  • People with these conditions may want to take part in ongoing clinical trials designed to identify new treatments.


Other medicines or treatments may be used, depending on the outlook (prognosis) and response to the starting medicines. Such treatments may include:

  • Interferon alpha
  • Cyclophosphamide or vinblastine
  • Etoposide
  • Methotrexate
  • Vemurafenib, if the BRAF V600E mutation is found
  • Stem cell transplantation

Other treatments may include:

  • Antibiotics to fight infections
  • Breathing support (with a breathing machine)
  • Hormone replacement therapy
  • Physical therapy
  • Special shampoos for scalp problems
  • Supportive care (also called comfort care) to relieve symptoms

In addition, people with these conditions who smoke are encouraged to stop since smoking may worsen the response to treatment

Symptoms
Multiple painful lesions on the surface of the skin
Conditions
Sloping edges and crusting over the chin with multiple,Crusted perioral ulcers arranged around the margins of the lips and minimal,Erythematous,Crusted erosions over bilateral axillae, groins, and scalp
Drugs
Interferon alpha,Cyclophosphamide or vinblastine,Etoposide,Methotrexate

What are the risk factors for pure cutaneous histiocytosis?

People with pure cutaneous histiocytosis that involves only a single area (such as bone or skin) may be treated with local surgery. However, they will need to be followed closely to look for signs that the disease has spread.

  • People with widespread Langerhans cell histiocytosis or Erdheim-Chester disease require medicines to reduce symptoms and control the spread of the disease.
  • Recent studies show that nearly all adults with widespread histiocytosis have gene mutations in the tumors, which appear to cause the disorder.
  • This condition affects only one to two in 100,000 individuals in the US. About 50% of all cases are diagnosed in childhood, commonly between ages 2 and 3.
  • Most adults with LCH have a history of smoking, and roughly two-thirds of these patients have a form of this disease that only lodges in the lung.


Other risk factors for LCH include:

  • A parent who was exposed to certain chemicals, such as benzene
  • A history of infections as a newborn
  • A family history of thyroid disease
  • Mutations in the BRAF gene

LCH-related BRAF mutations are acquired over the course of a lifetime, not inherited, and are only present in the abnormal cells. The BRAF gene provides instructions for making a protein related to control cell growth and development. When this protein becomes overactive, it may cause the Langerhans cells to grow and divide uncontrollably. Viral infections, environmental toxins, and changes in other genes may also play a role in the development of this complex disorder.

Symptoms
Multiple painful lesions on the surface of the skin
Conditions
Sloping edges and crusting over the chin with multiple,Crusted perioral ulcers arranged around the margins of the lips and minimal,Erythematous,Crusted erosions over bilateral axillae, groins, and scalp
Drugs
Interferon alpha,Cyclophosphamide or vinblastine,Etoposide,Methotrexate

Is there a cure/medications for pure cutaneous histiocytosis?

Pure cutaneous histiocytosis or Langerhans cell histiocytosis (LCH) is a group of rare disorders all characterized by the overproliferation of Langerhans cells.

  • LCH is a group of idiopathic histiocytic disorders including a wide spectrum of diseases.
  • People with pure cutaneous histiocytosis that involves only a single area (such as bone or skin) may be treated with local surgery. However, they will need to be followed closely to look for signs that the disease has spread.
  • Treatment for this condition varies and usually includes a combination of chemotherapy, radiation therapy, corticosteroids, and surgery.
  • Some patients may not need any intervention beyond close monitoring.
  • Most of the treatment is symptomatic and the condition cannot be cured completely in most cases.


Apart from other treatments, the symptoms also respond to starting medicines. Such treatments may include:

  • Interferon alpha
  • Cyclophosphamide or vinblastine
  • Etoposide
  • Methotrexate
  • Vemurafenib, if the BRAF V600E mutation is found
  • Stem cell transplantation

Other treatments may include:

  • Antibiotics to fight infections
  • Breathing support (with a breathing machine)
  • Hormone replacement therapy
  • Physical therapy
  • Special shampoos for scalp problems
  • Supportive care (also called comfort care) to relieve symptoms


Symptoms
Multiple painful lesions on the surface of the skin
Conditions
Sloping edges and crusting over the chin with multiple,Crusted perioral ulcers arranged around the margins of the lips and minimal,Erythematous,Crusted erosions over bilateral axillae, groins, and scalp
Drugs
Interferon alpha,Cyclophosphamide or vinblastine,Etoposide,Methotrexate

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