Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06126 (CD1a)
 2,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report 3 cases of a previously uncharacterized form of histiocytosis presenting in early infancy and showing ALK immunoreactivity. The patients presented with pallor, massive hepatosplenomegaly, anemia, and thrombocytopenia. Liver biopsy showed infiltration of the sinusoids by large histiocytes with markedly folded nuclei, fine chromatin, small nucleoli, and voluminous lightly eosinophilic cytoplasm that sometimes was vacuolated or contained phagocytosed blood cells. One patient developed cutaneous infiltrates that morphologically resembled juvenile xanthogranuloma. The histiocytes were immunoreactive for histiocytic markers (CD68, CD163, lysozyme), S100 protein, ALK (membranous and cytoplasmic pattern), and dendritic cell markers (fascin, factor XIIIa), but not CD1a and langerin. One case successfully analyzed by molecular techniques revealed TPM3-ALK fusion. Thus the spectrum of diseases exhibiting ALK translocation should be expanded to include ALK(+) histiocytosis. The disease in the 3 patients (2 having been given chemotherapy) resolved slowly over many months.
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PMID:ALK+ histiocytosis: a novel type of systemic histiocytic proliferative disorder of early infancy. 1866 Mar 80

Juvenile xanthogranuloma, a histiocyte disorder, usually presents with a solitary cutaneous lesion. Juvenile xanthogranuloma with extracutaneous involvement is a rare disease in which significant morbidity and occasional deaths may occur. Monozygotic twins with congenital systemic juvenile xanthogranuloma who presented with multiple skin lesions, hepatosplenomegaly, liver failure, and bone marrow involvement were reported. The diagnosis of systemic juvenile xanthogranuloma was confirmed by histology and immunohistochemical stains of the skin with liver biopsies revealing dense infiltration of lymphohistiocytes with typical Touton giant cells staining positive for CD68 and negative for CD1a and S-100 protein. Both of them received systemic prednisolone 1 mg/kg/day which was gradually tapered off with time according to clinical and investigative responses. At the 17-month follow-up period, both patients showed remarkable regression in all symptoms and laboratory studies.
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PMID:Severe congenital systemic juvenile xanthogranuloma in monozygotic twins. 1878 91

The development of juvenile xanthogranuloma (JXG) as a sequel to langerhans cell histiocytosis (LCH) treated with chemotherapy is rare and the hypothesis is intriguing. This is a case of a 19-year-old woman who presented with progressive development of tan-red papules on the axilla and eyelids over a 1.5-year time span. A biopsy of an axillary lesion showed a prominent dermal infiltrate of foamy histiocytoid cells with occasional Touton-type multinucleate giant cells, consistent with JXG. Three years later, the patient presented with additional similar papules on the axilla and vulva as well as a painful mass in the pelvic bone and diabetes insipidus with an associated pituitary mass. An iliac crest bone biopsy showed an eosinophil-rich infiltrate admixed with histiocytoid cells with reniform nuclei, which expressed S100 and CD1a, consistent with a diagnosis of LCH. Nonetheless, an additional axillary papule was once again consistent with JXG, with negative reaction for S100 and CD1a with no Birbeck granules by electron microscopy. This case is unique by the co-existing presentation of multiple cutaneous JXG lesions and internally confined LCH lesions without an apparently associated chemotherapy, corroborating the concept that JXG and LCH may share a common histogenesis.
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PMID:An 'eruptive' variant of juvenile xanthogranuloma associated with langerhans cell histiocytosis. 1884 Jan 55

A 2-year-old boy had hundreds of discrete, small, flat yellow to brown colored papules distributed over the face, neck, and trunk. Biopsy revealed a well-demarcated infiltrate within the papillary dermis composed of histiocytes and some Touton giant cells and eosinophils. The cells were negative for protein S-100 and CD1a but positive for CD68 staining. No systemic lesions of juvenile xanthogranuloma were identified. Lichenoid juvenile xanthogranuloma is a very infrequent variant of juvenile xanthogranuloma.
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PMID:Multiple lichenoid juvenile xanthogranuloma. 1941 90

An 11-year old Caucasian female with a remote history of urticaria pigmentosa presented with a neck mass. A biopsy demonstrated a large intradermal nodule composed of unusually large epithelioid mast cells, including a prominent subset with bi-lobed and multi-lobed nuclei. By immunohistochemistry, the cells expressed CD117 (C-Kit), mast cell tryptase, CD68, and CD25, and were negative for CD163, CD1a, and S-100, confirming the diagnosis of mastocytoma. Equally prominent was an admixed infiltrate of CD68 and CD163-positive xanthomatous histiocytes that included Touton-type giant cells. Eosinophils were abundant. At 7 months follow-up, there was no recurrence of the lesion following complete excision. However, given the unusual cytologic features, close clinical observation is warranted, as the long-term biologic potential of mastocytoma with this degree of cytologic atypia is uncertain. Awareness of this unusual morphologic variant is also important as the histologic features may mimic such childhood neoplasms as juvenile xanthogranuloma and Langerhans cell histiocytosis.
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PMID:Histiocyte-rich pleomorphic mastocytoma: an uncommon variant mimicking juvenile xanthogranuloma and Langerhans cell histiocytosis. 1960 70

A 15-month-old boy was seen because of two distinct types of lesions, namely, yellowish papules on the scalp and face, and hemorrhagic macules and papules on the trunk. A biopsy specimen from one of the yellowish papules showed histopathologic and immunohistochemical changes of both juvenile xanthogranuloma and Langerhans cell histiocytosis. The section from the center of the biopsy specimen showed a proliferation of foamy histiocytes, among them Touton giant cells, which were positive for CD68, but negative for S-100 and CD1a. At the edges of the specimen was a predominantly histiocytic infiltration in the papillary dermis that was positive for S-100 and CD1a, but negative for CD68. The patient died 12 days after hospital admission consequent to disseminated intravascular coagulopathy. We did not biopsy the hemorrhagic lesions; however, this combination of findings suggests a possible relationship between juvenile xanthogranuloma and Langerhans cell histiocytosis, as previously reported.
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PMID:A child with coexistent juvenile xanthogranuloma and Langerhans cell histiocytosis. 1996 87

Benign histiocytic proliferations are identified by their component cells and classified as either Langerhans cell histiocytosis or non-Langerhans cell histiocytosis. We report a 58-year-old Caucasian woman who presented with diabetes insipidus and was found to harbor a large suprasellar mass. Histopathological analysis was consistent with non-LCH. The differential diagnoses included juvenile xanthogranuloma, adult-onset xanthogranuloma, xanthoma disseminatum, Rosai-Dorfman disease, and Erdheim-Chester disease. Immunohistochemical examination demonstrated a proliferation of large lipid-laden histiocytic cells which were positive for CD68, negative for S100 protein, and showed only faint, background staining for CD1a. We present a case of an autopsy-confirmed non-Langerhans cell histiocytosis limited to the central nervous system and evaluated with both immunohistochemical and ultrastructural studies. Based on the multifocality, anatomic distribution, and immunostaining features, a diagnosis of Erdheim-Chester disease was made. This is only the second reported case of Erdheim-Chester disease with intracranial involvement but absence of extracerebral manifestations. Given the overlapping clinicopathologic, radiographic, and immunohistochemical profiles, differentiating between these rare histiocytic disorders can often present a significant diagnostic challenge. A systematic approach using all available clinical, laboratory, radiographic, histologic, immunohistochemical and ultrastructural data is essential for proper discrimination between the numerous histiocytoses.
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PMID:Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. 2033 48

Osteopetrosis (OP) is a clinically and genetically heterogeneous disorder characterized by increased bone density. Associations between OP and other clinical entities are rare but include muscular degeneration, Dandy-Walker syndrome, craniosynostosis, and poikiloderma. Infantile OP has also been diagnosed in a group of infants with neuronal storage disease. An association between OP and juvenile xanthogranuloma (JXG) has never been previously reported. Herein we present a case of an intermediate form of OP in a newborn who presented with hepatosplenomegaly and pancytopenia. Histologic evaluation of a bone marrow biopsy demonstrated abnormally thickened bony trabeculae. A liver biopsy demonstrated prominent expansion of portal areas by a histiocytic infiltrate expressing CD45, CD14, CD68, CD163, factor XIIIa, and fascin, while the biopsy was negative for S100 and CD1a. These findings were those associated with JXG. Genetic testing demonstrated a mutation involving the Pleckstrin homology domain-containing family M member 1 ( PLEKHM1 ) gene. A different mutation in this gene has been previously reported in one other patient with OP. Our case is the 2nd reported case with PLEKHM1 mutation in a patient with a mild form of OP. It also demonstrates the 1st reported occurrence of OP concomitantly with JXG.
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PMID:Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review. 2105 59

Isolated spinal involvement of juvenile xanthogranuloma (JXG) is extremely rare. There are only seven prior published cases of spinal JXG, of which only one has been reported in an adult. We report here the eighth case of spinal JXG and the second in an adult. The patient, a 22-year-old female, presented with progressive upper backache. Radiological examination revealed a well-defined osteolytic hypointense mass in the T7 vertebral body, with a large soft tissue paraspinal extension causing cord compression. Complete resection of the mass was performed, with resolution of symptoms. Histology showed a histiocytic tumour with numerous Touton, foreign body and osteoclastic giant cells, immunopositive for CD68 and vimentin and negative for S100 and CD1a, corresponding to a diagnosis of JXG. Literature regarding spinal JXG is reviewed and discussed.
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PMID:Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. 2162 71

Langerhans cell histiocytosis (LCH) and juvenile xanthogranuloma (JXG) both belong to the histiocytosis group of disorders, which have varied prognostic and clinical significance. Their normal cellular counterparts share a common CD34-positive hematopoietic stem cell precursor that matures along CD14-negative or -positive pathways. Rare cases of LCH and JXG show overlapping findings, suggesting that this divergent maturation is not irreversible. We report a case of an infant diagnosed with cutaneous LCH shortly after birth. Two years after diagnosis, a recurrent lesion in his external auditory canal contained lipidized cells with CD68 and factor XIIIa expression and lacked Birbeck granules and CD1a, consistent with JXG. Our case and previous reports of this phenomenon raise the question of a histogenic relationship between LCH and JXG, and we speculate that the lesional cells of origin are subjected to therapy-induced modulation that results in a varied differentiation.
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PMID:Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. 2179 10


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