Langerhans cell histiocytosis
From Wikipedia, the free encyclopedia
| ICD-10 | D76.0 |
|---|---|
| ICD-9 | 202.5, 277.89 |
| ICD-O: | 9752/3 |
| OMIM | 604856 |
| DiseasesDB | 5906 |
| eMedicine | derm/216 |
Langerhans Cell Histiocytosis (LCH) is a rare disease involving clonal proliferation of langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. The disease is part of a group of clinical syndromes called histiocytoses (abnormal increase of histiocytes). It used to be called histocytosis X until renamed in 1985 by histocytic society[1] and embraces clinical spectrum ranging from single bone lesion to multisystemic disease.
Whether the disease is always malignant or sometimes reactive is not clear. Histological features do not differ between localised and diffuse diseases but the reason behind such wide variation in presentation is not known.[2]
Sometimes sub-devided into 3 groups:
- Eosinophilic granuloma(EG): (Chronic focal) a slowly progressive disease.
- Hand-Schuller-Christian disease(HSC): (Chronic disemminated) Classically presents as the triad of diabetes insipidus, proptosis, and lytic bone lesions. Usually disseminated and chronic condition.
- Letterer-Siwe disease(LS): fulminant (Acute disemminated) disease in children under age 2 with poor prognosis.
Pulmonary Langerhans cell histiocytosis (PLCH) is a smoking-related interstitial lung disease, used to be considered a benign condition in adults, long term complications like pulmonary hypertension is becoming increasingly recognized.
| Terms covered by the topic |
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Hand-Schüller-Christian disease |
Contents |
[edit] Prevalence
It usually affects children of between 1 and 15 years old and peak incidence is between age 5 and 10. Among children under the age of 10, yearly incidence is thought to be 1 in 200,000[3]; and in adults even more rare, in about 1 in 560,000. It has been reported in elderly but is vanishingly rare[4]. commoner in white race and boys suffers twice than girls.
LCH is usually sporadic and non-hereditary condition but familial clustering has been noted in limited number of cases. Hashimoto-Pritzker disease, a variant of Hand-Schüller-Christian disease, is a congenital self-healing form[5].
[edit] Patho-physiology
The Disease spectrum results from clonal accumulation and proliferation of cells resembling the epidermal dendritic cells called langerhans cells, hence sometimes called dendritic cell histiocytosis. These cells in combination with lymphocytes, eosinophils and normal histiocytes form typical LCH lesion that can be found in almost any organ[6].
[edit] Clinical Feature
Features can be non-specific from generalised inflammatory response e.g fever, lethargy, weight loss or can be due to specific organ involvement.
Organs involved:
- Bone: Most frequent in both unifocal and disseminated disease presenting as painful swelling. Skull, long bone of upper extremity, flat bones are affected in descending order. Infiltration in hands and feet is unusual. Osteolytic lesions can lead to pathological fractures.
- Skin: Commonly present as rash which varies between scaly erythometous lesion to red papule pronounced in inter-trigonous areas. Upto 80% of LS would have extensive eruptions on the scalp.
- Bone marrow : Pancytopenia with super added infection usually implies poor prognosis. Anaemia can be due to number of factors and not necessarily implies bonemarrow infiltration.
- Lymph node: cervical commonest. enlargement of the liver in 20%, spleen in 30% and lymph nodes in 50% of HSC.[7]
- Endocrine glands: Hypothelamic pituitary axis commonly involved. Diabates insipidus most common. Anterior pituitary hormone deficiency is usually permanent.
- Lungs:
- Less frequently GIT, CNS,
[edit] Diagnosis
Diagnosis is confirmed histologically by tissue biopsy.
Haemotoxilin-eosin stain of biopsy slide will show features of Langerhans cell e.g. distinct cell margin, pink granular cytoplasm. Presence of Birbeck granules on electron microscopy and immuno-cytochemical features e. g. CD1 positivity are more specific.
Initially routine blood tests e.g. full blood count, liver function test, U&Es, bone profile are done to determine disease extent and rule out other causes.
Radiology will show osteolytic bone lesions and damage to the lung. Latter may be evident in CXR with micronodular and interstitial infiltrate in the mid and lower zone of lung, with sparing of the Costophrenic angle or honeycomb appearance in older lesions. MRI and CT may show infiltration in sella tercica.
Assessment of endocrine function and bonemarrow biopsy are also performed when indicated.
[edit] Treatment
Treatment is guided by extent of disease.
Solitary bone lesion may be amenable through excision or limited radiation. However systemic disease often require chemotherapy.
Use of systemic steroid is common, singly or adjunct to chemotherapy. Local steroid cream is applied to skin lesions.
Endocrine deficiency often require lifelong suppliment e.g. desmopressin for diabates insipidus which can be applied as nasal drop.
Chemotherapeutic agents like Alkylating agents, antimetabolites, vinca alkaloids either singly or in combination can lead to complete remission in diffuse disease.
[edit] Prognosis
Exellent for single foci disease.
With multi-focal disease 60% have a chronic course, 30% achieve remission and mortality is upto 10%[8].
[edit] LCH in popular culture
This disease was featured in House episode 3.10, Merry Little Christmas.
[edit] See also
[edit] External links
- The Histiocytosis Association of America
- Langerhans cell histiocytosis, article by the Sydney Children's Hospital
- synd/2224 at Who Named It
[edit] Reference
- ^ Writing group of histiocyte society. Histiocytosis syndrome in children. Lancet 1987;1:208-9.
- ^ Kusumakumary-P, James-F-V, Chellam-V-G, Ratheesan-K, Nair-M-K.,Disseminated Langerhans cell histocytosis in children: treatment outcome. American journal of clinical oncology :Apr 1999, vol. 22, no. 2, p. 180-3, ISSN: 0277-3732.
- ^ Histocytosis, Medical encyclopedia, MedlinePlus [1]
- ^ Gerlach B, Stein A, Fischer R, et al; ;Hautarzt 1998 Jan;49(1):23-30.[abstract]
- ^ Larralde M, Rositto A, Giardelli M, et al; Congenital self-healing histiocytosis (Hashimoto-Pritzker).;Int J Dermatol 1999 Sep;38(9):693-6.[abstract
- ^ Makras-Polyzois, Papadogias-Dimitrios, Kontogeorgos-George, Piaditis-George, Kaltsas-Gregory-A.,Spontaneous gonadotrophin deficiency recovery in an adult patient with Langerhans cell histiocytosis (LCH).Pituitary, {Pituitary}, 2005, vol. 8, no. 2, p. 169-74, ISSN: 1386-341X.
- ^ Langerhans cell histiocytosis, Patient plus from Patient UK,[2]
- ^ Komp DM, El Mahdi A, Starling KA, et al; Quality of survival in histiocytosis X: a Southwest Oncology Group study.;Med Pediatr Oncol 1980;8(1):35-40.[abstract]
