U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Letterer-Siwe disease(LESD)

MedGen UID:
7311
•Concept ID:
C0023381
•
Disease or Syndrome
Synonyms: HISTIOCYTOSIS X, ACUTE DISSEMINATED; L-S DISEASE
SNOMED CT: Letterer-Siwe disease (clinical) (118614007); Langerhans cell histiocytosis, disseminated (clinical) (118614007); Letterer-Siwe disease (128812005); Langerhans cell histiocytosis, generalized (128812005); Langerhans cell histiocytosis, disseminated (128812005); Acute infancy reticulosis (118614007); LSD - Letterer-Siwe disease (118614007); Acute progressive histiocytosis X (118614007); Langerhans cell histiocytosis, disseminated (118614007); Acute infancy reticulosis (128812005); Langerhans cell granulomatosis (128812005)
 
Monarch Initiative: MONDO:0009519
OMIM®: 246400

Definition

A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. [from NCI]

Clinical features

From HPO
Abdominal distention
MedGen UID:
34
•Concept ID:
C0000731
•
Finding
Distention of the abdomen.
See: Feature record | Search on this feature
Hepatosplenomegaly
MedGen UID:
9225
•Concept ID:
C0019214
•
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Encephalopathy
MedGen UID:
39314
•Concept ID:
C0085584
•
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
See: Feature record | Search on this feature
Irritability
MedGen UID:
397841
•Concept ID:
C2700617
•
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
See: Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Abnormality of the skeletal system
MedGen UID:
867418
•Concept ID:
C4021790
•
Anatomical Abnormality
An abnormality of the skeletal system.
See: Feature record | Search on this feature
Dyspnea
MedGen UID:
3938
•Concept ID:
C0013404
•
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
See: Feature record | Search on this feature
Pulmonary infiltrates
MedGen UID:
116009
•Concept ID:
C0235896
•
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
See: Feature record | Search on this feature
Seborrheic dermatitis
MedGen UID:
19912
•Concept ID:
C0036508
•
Disease or Syndrome
Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
See: Feature record | Search on this feature
Stomatitis
MedGen UID:
52511
•Concept ID:
C0038362
•
Disease or Syndrome
Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
See: Feature record | Search on this feature
Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
See: Feature record | Search on this feature
Fever
MedGen UID:
5169
•Concept ID:
C0015967
•
Sign or Symptom
Body temperature elevated above the normal range.
See: Feature record | Search on this feature
Pallor
MedGen UID:
10547
•Concept ID:
C0030232
•
Finding
Abnormally pale skin.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLetterer-Siwe disease
Follow this link to review classifications for Letterer-Siwe disease in Orphanet.

Professional guidelines

PubMed

Diagnosis and management of langerhans cell histiocytosis.
DiCaprio MR, Roberts TT
J Am Acad Orthop Surg 2014 Oct;22(10):643-52. doi: 10.5435/JAAOS-22-10-643. PMID: 25281259
Treatment of Letterer-Siwe disease.
Chantler C, Milner AD, Winterborn MH
Arch Dis Child 1971 Aug;46(248):552-4. doi: 10.1136/adc.46.248.552. PMID: 5565470Free PMC Article
Successful treatment of an infant with Letterer-Siwe disease with vinblastine sulfate.
al-Rashid RA
Clin Pediatr (Phila) 1970 Aug;9(8):494-6. doi: 10.1177/000992287000900821. PMID: 5454671

Recent clinical studies

Etiology

Oral mucosal lesions with transient self-healing of Langerhans cell histiocytosis: a case report.
Zhang X, Xue N, Ruan M, Zeng X
Hua Xi Kou Qiang Yi Xue Za Zhi 2023 Oct 1;41(5):592-598. doi: 10.7518/hxkq.2023.2023084. PMID: 37805684Free PMC Article
Unique Case of Congenital Langerhans Cell Histiocytosis Presenting as Intrauterine Fetal Demise.
Baig A, Albrecht S, Corredor AG, Fiset PO, Chen MF
Pediatr Dev Pathol 2022 Jul-Aug;25(4):479-484. Epub 2022 Apr 14 doi: 10.1177/10935266221078501. PMID: 35421319
Histiocytosis in the pediatric spine: a clinical and radiographic analysis of 50 patients.
Moyano CA, Remondino RG, Tello CA, Piantoni L, Galaretto E, Francheri Wilson IA, Bersusky E, Noël MA
Spine Deform 2021 May;9(3):823-831. Epub 2021 Jan 5 doi: 10.1007/s43390-020-00261-8. PMID: 33400235
Diagnosis and management of langerhans cell histiocytosis.
DiCaprio MR, Roberts TT
J Am Acad Orthop Surg 2014 Oct;22(10):643-52. doi: 10.5435/JAAOS-22-10-643. PMID: 25281259
Idiopathic differentiated histiocytosis.
Daneshbod K, Kissane JM
Am J Clin Pathol 1978 Sep;70(3):381-9. doi: 10.1093/ajcp/70.3.381. PMID: 309279

Diagnosis

Letterer-Siwe disease presenting with gastrointestinal and cutaneous manifestations.
Stadnikova AS, Abbas WF, Tamrazova OB, Pristanskova EA, Zakharova IN, Berezhnaya IV, Skobeev DA, Goncharova LV
Dermatol Online J 2023 Dec 15;29(6) doi: 10.5070/D329662996. PMID: 38478667
Langerhans cell histiocytosis in the oral and maxillofacial region: An update.
Faustino ISP, Fernandes PM, Pontes HAR, Mosqueda-Taylor A, Santos-Silva AR, Vargas PA, Lopes MA
J Oral Pathol Med 2021 Jul;50(6):565-571. Epub 2021 Jun 20 doi: 10.1111/jop.13207. PMID: 34091963
Diagnosis and management of langerhans cell histiocytosis.
DiCaprio MR, Roberts TT
J Am Acad Orthop Surg 2014 Oct;22(10):643-52. doi: 10.5435/JAAOS-22-10-643. PMID: 25281259
Histiocytosis X.
Favara BE, McCarthy RC, Mierau GW
Hum Pathol 1983 Aug;14(8):663-76. doi: 10.1016/s0046-8177(83)80138-5. PMID: 6347865
Idiopathic differentiated histiocytosis.
Daneshbod K, Kissane JM
Am J Clin Pathol 1978 Sep;70(3):381-9. doi: 10.1093/ajcp/70.3.381. PMID: 309279

Therapy

Letterer-Siwe disease in an octogenarian.
Caputo R, Berti E, Monti M, Gasparini G, Bertani E
J Am Acad Dermatol 1984 Feb;10(2 Pt 1):226-33. doi: 10.1016/s0190-9622(84)70027-2. PMID: 6546937
Treatment of Letterer-Siwe disease.
Chantler C, Milner AD, Winterborn MH
Arch Dis Child 1971 Aug;46(248):552-4. doi: 10.1136/adc.46.248.552. PMID: 5565470Free PMC Article
Cutaneous Letterer-Siwe disease.
Esterly NB, Swick HM
Am J Dis Child 1969 Feb;117(2):236-8. doi: 10.1001/archpedi.1969.02100030238022. PMID: 5763834
Letterer-Siwe disease.
Kelly A
Br J Dermatol 1967 May;79(5):293. doi: 10.1111/j.1365-2133.1967.tb11494.x. PMID: 6025576
Letterer-Siwe disease treated with prednisone.
FROMMER EA
Proc R Soc Med 1957 May;50(5):332-3. PMID: 13431892Free PMC Article

Prognosis

Diagnosis and management of langerhans cell histiocytosis.
DiCaprio MR, Roberts TT
J Am Acad Orthop Surg 2014 Oct;22(10):643-52. doi: 10.5435/JAAOS-22-10-643. PMID: 25281259
Langerhans cell histiocytosis of bone.
Stull MA, Kransdorf MJ, Devaney KO
Radiographics 1992 Jul;12(4):801-23. doi: 10.1148/radiographics.12.4.1636041. PMID: 1636041
Histiocytosis X.
Favara BE, McCarthy RC, Mierau GW
Hum Pathol 1983 Aug;14(8):663-76. doi: 10.1016/s0046-8177(83)80138-5. PMID: 6347865
Eosinophilic granuloma of bone.
Slater JM, Swarm OJ
Med Pediatr Oncol 1980;8(2):151-64. doi: 10.1002/mpo.2950080208. PMID: 6999317
Idiopathic differentiated histiocytosis.
Daneshbod K, Kissane JM
Am J Clin Pathol 1978 Sep;70(3):381-9. doi: 10.1093/ajcp/70.3.381. PMID: 309279

Clinical prediction guides

Gastrointestinal: Letterer Siwe disease: An uncommon gastrointestinal presentation.
Al-Mohannadi M, Yakoub R, Soofi ME, Elsabah HM, Thandassery RB
J Gastroenterol Hepatol 2016 Jun;31(6):1070. doi: 10.1111/jgh.13293. PMID: 26757250
Cerebrospinal fluid cytology in histiocytic proliferative disorders.
Hamilton SR, Gupta PK, Marshall ME, Donovan PA, Wingard JR, Zaatari GS
Acta Cytol 1982 Jan-Feb;26(1):22-8. PMID: 6175126
Familial lymphohistiocytosis.
Janka GE, Belohradsky BH, Däumling S, Müller-Höcker J, Meister P, Haas RJ
Haematol Blood Transfus 1981;27:245-53. doi: 10.1007/978-3-642-81696-3_30. PMID: 7327433
Familial occurrence of Letterer-Siwe disease.
Freundlich E, Amit S, Montag Y, Suprun H, Nevo S
Arch Dis Child 1972 Feb;47(251):122-5. doi: 10.1136/adc.47.251.122. PMID: 5018627Free PMC Article
HISTIOCYTOSIS X (EOSINOPHILIC GRANULOMA OF BONE, LETTERER-SIWE DISEASE, AND SCHUELLER-CHRISTIAN DISEASE). FURTHER OBSERVATIONS OF PATHOLOGICAL AND CLINICAL IMPORTANCE.
LICHTENSTEIN L
J Bone Joint Surg Am 1964 Jan;46:76-90. PMID: 14104316

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...