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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor={{Rim}}
|QuestionAuthor={{Rim}}, {{AJL}} {{Alison}}
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Pathology
|MainCategory=Pathology
Line 20: Line 20:
|MainCategory=Pathology
|MainCategory=Pathology
|SubCategory=Hematology
|SubCategory=Hematology
|Prompt=An 13 year old girl is brought to the physician's office for excessive thirst , frequent urination, and weight loss. Upon further questioning, she reports new raised scalp lesions that are increasing in number. Physical examination is remarkable for skull lesions, cervical lymphadenopathy, and exophthalmus. CT scan shows osteolytic coalescent lesions of the skull with a "georgraphical skull" appearance. Biopsy of the skin lesions shows dermal infiltration of clustering cells with large ovoid pink cytoplasm under light microscopy. Immunofluorescence shows positive staining for S100 and CD1a. Electron microscopy shows the presence of pentalaminar membranous organelles in the cytoplasms near the nuclear membrane that resemble tennis rackets. What is the most likely diagnosis?
|Prompt=A 13-year-old female presents to the physician's office for excessive thirst, frequent urination, and weight loss. She reports raised scalp lesions that are increasing in number. Upon physical examination, you observe skull lesions, cervical lymphadenopathy, and exophthalmus. A CT scan displays osteolytic coalescent lesions of the skull with a "georgraphical skull" appearance. A biopsy of the skin lesions demonstrates dermal infiltration of clustering cells, with large ovoid pink cytoplasm under light microscopy. Immunofluorescence exhibits positive staining for S100 and CD1a and electron microscopy reveals the presence of pentalaminar membranous organelles, resembling tennis rackets, near the nuclear membrane. Which of the following diagnoses most likely corresponds with the findings?
|Explanation=Langerhan cell histiocytosis is a cancer-like heterongeous group of diseases that are characterized by the presence of Langerhans cells, which are epidermal dendritic cells. These cells are often called "nerve cells of the skin". Langerhan's cell histiocytosis was once termed histiocytosis X in the past due to the unclear etiology of the disease. Since the description of Langerhan's cells, the disease is now called "Langerhan's cell histiocytosis".  
|Explanation=[[Langerhans cell histiocytosis]] is a cancer-like heterongeous group of diseases characterized by the presence of epidermal dendritic cells called Langerhans cells. These cells are often called "nerve cells of the skin." Langerhans cell histiocytosis was once termed histiocytosis X due to the unclear etiology of the disease.
Hand-Schuller-Christian disease (HSC), eosinophilic granuloma, and Letterer-Siwe disease are all subgroups of [[Langerhans cell histiocytosis]]. The patient in this scenario has the classical clinical presentation of HSC disease, characterized by the triad of: diabetes insipidus, exophthalmus, and lytic bony lesions. Other systemic signs and symptoms may be present, such as lymphadenopathy, pulmonary findings, and hepatosplenomegaly.


In fact, the disease is a group of diseases that share the same pathological features: Hand-Schuller-Christian disease (HSC), eosinophilic granuloma, and Letterer-Siwe disease are all subgroups of Langerhan's cell histiocytosis. The patient in the vignette has the classical clinical presentation of HSC disease, characterized by the triad of: diabetes insipidus, exophthalmus, and lytic bony lesions. Other systemic signs and symptoms may be present, such as lymphadenopathy, pulmonary findings, hepatosplenomegaly etc.  
Often, light microscopy displays characteristic Langerhans cells, with large ovoid pink cytoplasm that diffusely infiltrate the dermal layer, resembling a granuloma, which exhibit the characteristic staining of Cla and S100 upon immunofluoresence. Electron microscopy demonstrates the characteristic tennis racket shaped [[Birbeck granules]]. [[Birbeck granules]] are pentalaminar membranous organelles located near the nuclear membrane. Treatment may include steroids or ultraviolet phototherapy for skin lesions, bisphosphonates for bone lesions, and chemotherapy for systemic involvement.


The disease is best diagnosed pathologically. Light microscopy shows characteristic Langerhan's cells, which are cells with large ovoid pink cytoplasm that infiltrate diffusely the dermal layer resembling a granuloma. Immunofluoresence shows classical staining for C1a and S100. Electron microscopy shows characteristic "Birbeck granules" that resemble tennis rackets. Birbeck granules are defined as pentalaminar membranous organelles in the cytoplasms located near the nuclear membrane. Prognosis is dependent on the patient's age, systemic involvement, and response to therapy. Treatment varies widely between different diseases is still controversial, but may include steroids or ultraviolet phototherapy for skin lesions, bisphosphonates for bone lesions, and chemotherapy for systemic involvement.
|EducationalObjectives= Langerhans cell histiocytosis is characterized by the presence of Langerhans cells on pathology and positive staining for CD1a and S100. Electron microscopy displays characteristic Birbeck granules, which resemble tennis rackets.


Educational Objective: Langerhan's cell histiocytosis is characterized by the presence of Langerhan's cells on pathology, positive staining for CD1a and S100. Electron microscopy shows characteristic Birbeck granules, which resemble tennis rackets.
|References= Cugati G, Singh M, Pande A, et al. Hand Schuller Christian disease. Indian J Med Oncol. 2011; 32(3):183-184.
 
References:
<br>Cugati G, Singh M, Pande A, et al. Hand Schuller Christian disease. Indian J Med Oncol. 2011; 32(3):183-184.
<br>Badalian-Very G, Vergilio J, Fleming M, et al. Pathogenesis of Langerhans cell histiocytosis. Annu Rev Pathol. 2013; 8:1-20
<br>Badalian-Very G, Vergilio J, Fleming M, et al. Pathogenesis of Langerhans cell histiocytosis. Annu Rev Pathol. 2013; 8:1-20
|AnswerA=Langerhan's cell histiocytosis
|AnswerA=Langerhans cell histiocytosis
|AnswerAExp=The patient is presenting with classical features of Langerhan's cell histiocytosis
|AnswerAExp= See Explanation
|AnswerB=Schwannoma
|AnswerB=Schwannoma
|AnswerBExp=Schwannoma may have S100 positive staining, but the rest of the findings cannot be explained by schwannoma.
|AnswerBExp=[[Schwannoma]] may exhibit positive S100 staining, but the other findings are not usually observed in [[schwannoma]].
|AnswerC=Diabetes insipidus
|AnswerC=Diabetes insipidus
|AnswerCExp=Diabetes insipidus is classically found as part of the Langerhan's cell histiocytosis syndrome, but is not an isolated diagnosis in this case.
|AnswerCExp=Although often [[diabetes insipidus]] can be associated with the [[Langerhans cell histiocytosis]] syndrome, it is not the isolated diagnosis in this scenario.
|AnswerD=Mastocytosis
|AnswerD=Mastocytosis
|AnswerDExp=Mastocytosis may be in the differential diagnosis of Langerhan's cell histiocytosis. However, it cannot explain all the findings in this patient.
|AnswerDExp=[[Mastocytosis]] can be associated with the [[Langerhans cell histiocytosis]], it is not the isolated diagnosis in this scenario.
|AnswerE=Wiskott-Aldrich syndrome
|AnswerE=Wiskott-Aldrich syndrome
|AnswerEExp=Patients with Wiskott-Aldrich syndrome (WAS) often have thrombocytopenic purpura, eczematous skin lesions, and recurrent infections, all of which may be present in Langerhan's cell histiocytosis. As such, WAS may be in the differential diagnosis of Langerhan's cell histiocytosis. However, WAS cannot explain all the patient's clinical findings.
|AnswerEExp=Patients with [[Wiskott-Aldrich syndrome]] (WAS) often have thrombocytopenic purpura, eczematous skin lesions, and recurrent infections, all of which may be present in Langerhans cell histiocytosis. Although WAS may be in the differential diagnosis of [[Langerhans cell histiocytosis]], WAS does not account for all of the patient's clinical findings.
|RightAnswer=A
|RightAnswer=A
|WBRKeyword=Langerhan's, cell, histiocytosis, X, langerhan, birbeck, granule, granules, tennis, racket, S100, C1a, stain, dendritic, dendrite, skull, lesion, osteolytic, diabetes, insipidus, exophthalmus
|WBRKeyword=Langerhans, cell, histiocytosis X, langerhan, birbeck, granule, granules, S100, C1a, dendritic, dendrite, skull, lesion, osteolytic, diabetes, insipidus, exophthalmus
|Approved=No
|Approved=Yes
}}
}}

Revision as of 13:49, 14 July 2014
Author [[PageAuthor::Rim Halaby, M.D. [1], Alison Leibowitz [2] (Reviewed by Alison Leibowitz)]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Pathology
Sub Category SubCategory::Hematology
Prompt [[Prompt::A 13-year-old female presents to the physician's office for excessive thirst, frequent urination, and weight loss. She reports raised scalp lesions that are increasing in number. Upon physical examination, you observe skull lesions, cervical lymphadenopathy, and exophthalmus. A CT scan displays osteolytic coalescent lesions of the skull with a "georgraphical skull" appearance. A biopsy of the skin lesions demonstrates dermal infiltration of clustering cells, with large ovoid pink cytoplasm under light microscopy. Immunofluorescence exhibits positive staining for S100 and CD1a and electron microscopy reveals the presence of pentalaminar membranous organelles, resembling tennis rackets, near the nuclear membrane. Which of the following diagnoses most likely corresponds with the findings?]]
Answer A AnswerA::Langerhans cell histiocytosis
Answer A Explanation AnswerAExp::See Explanation
Answer B AnswerB::Schwannoma
Answer B Explanation [[AnswerBExp::Schwannoma may exhibit positive S100 staining, but the other findings are not usually observed in schwannoma.]]
Answer C AnswerC::Diabetes insipidus
Answer C Explanation [[AnswerCExp::Although often diabetes insipidus can be associated with the Langerhans cell histiocytosis syndrome, it is not the isolated diagnosis in this scenario.]]
Answer D AnswerD::Mastocytosis
Answer D Explanation [[AnswerDExp::Mastocytosis can be associated with the Langerhans cell histiocytosis, it is not the isolated diagnosis in this scenario.]]
Answer E AnswerE::Wiskott-Aldrich syndrome
Answer E Explanation [[AnswerEExp::Patients with Wiskott-Aldrich syndrome (WAS) often have thrombocytopenic purpura, eczematous skin lesions, and recurrent infections, all of which may be present in Langerhans cell histiocytosis. Although WAS may be in the differential diagnosis of Langerhans cell histiocytosis, WAS does not account for all of the patient's clinical findings.]]
Right Answer RightAnswer::A
Explanation [[Explanation::Langerhans cell histiocytosis is a cancer-like heterongeous group of diseases characterized by the presence of epidermal dendritic cells called Langerhans cells. These cells are often called "nerve cells of the skin." Langerhans cell histiocytosis was once termed histiocytosis X due to the unclear etiology of the disease.

Hand-Schuller-Christian disease (HSC), eosinophilic granuloma, and Letterer-Siwe disease are all subgroups of Langerhans cell histiocytosis. The patient in this scenario has the classical clinical presentation of HSC disease, characterized by the triad of: diabetes insipidus, exophthalmus, and lytic bony lesions. Other systemic signs and symptoms may be present, such as lymphadenopathy, pulmonary findings, and hepatosplenomegaly.

Often, light microscopy displays characteristic Langerhans cells, with large ovoid pink cytoplasm that diffusely infiltrate the dermal layer, resembling a granuloma, which exhibit the characteristic staining of Cla and S100 upon immunofluoresence. Electron microscopy demonstrates the characteristic tennis racket shaped Birbeck granules. Birbeck granules are pentalaminar membranous organelles located near the nuclear membrane. Treatment may include steroids or ultraviolet phototherapy for skin lesions, bisphosphonates for bone lesions, and chemotherapy for systemic involvement.
Educational Objective: Langerhans cell histiocytosis is characterized by the presence of Langerhans cells on pathology and positive staining for CD1a and S100. Electron microscopy displays characteristic Birbeck granules, which resemble tennis rackets.
References: Cugati G, Singh M, Pande A, et al. Hand Schuller Christian disease. Indian J Med Oncol. 2011; 32(3):183-184.
Badalian-Very G, Vergilio J, Fleming M, et al. Pathogenesis of Langerhans cell histiocytosis. Annu Rev Pathol. 2013; 8:1-20]]

Approved Approved::Yes
Keyword WBRKeyword::Langerhans, WBRKeyword::cell, WBRKeyword::histiocytosis X, WBRKeyword::langerhan, WBRKeyword::birbeck, WBRKeyword::granule, WBRKeyword::granules, WBRKeyword::S100, WBRKeyword::C1a, WBRKeyword::dendritic, WBRKeyword::dendrite, WBRKeyword::skull, WBRKeyword::lesion, WBRKeyword::osteolytic, WBRKeyword::diabetes, WBRKeyword::insipidus, WBRKeyword::exophthalmus
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