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)

Progressive mucinous histiocytosis is a rare, benign, non-Langerhans' cell histiocytosis limited to the skin. Ten cases--all women--in four families and one sporadic case have been described in the literature. The disorder usually begins in childhood and progresses slowly. We report two sporadic cases of adult-onset progressive mucinous histiocytosis in unrelated African-American women, aged 48 and 55 years, respectively, who developed red-brown and flesh-coloured, asymptomatic papules on the face, the arms and the legs without truncal, mucosal or visceral involvement. The lesions showed no spontaneous regression. Both patients lacked associated systemic symptoms, including polyuria, polydipsia or seizures. There was no underlying hyperlipidaemia, paraproteinaemia or lymphoproliferative disease. No family history of similar lesions could be identified. Light microscopy revealed dermal proliferation of spindle-shaped histiocytes with abundant mucin deposition. Electron microscopy demonstrated a high number of myelin figures or zebra bodies in the cytoplasm of histiocytes. On immunohistochemistry, positive staining with macrophage markers--CD68, HAM56 and lysozyme--and factor XIIIa, a transglutaminase present in dermal dendrocytes, and negative staining with Langerhans' cell markers--CD1a and S100--and CD34, a marker present in dermal dendritic cells derived from uncommitted mesenchymal cells, were observed.
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PMID:Two sporadic cases of adult-onset progressive mucinous histiocytosis. 1642 Mar 13

A 3-year-old Thai boy suffered from two histiocytoses, Rosai-Dorfman disease (RDD) and juvenile xanthogranuloma (JXG). The patient first presented with massive cervical lymphadenopathy at the age of one year. Biopsy revealed typical RDD; abnormally large CD68- and S-100 protein-positive histiocytes with occasional emperipolesis filled up the sinuses. Two years later, he developed polyuria and polydypsia. Skull film demonstrated osteolytic lesions at the occiput and left parietal region. Enlargement of the pituitary stalk was found on the magnetic resonance imaging. Despite the clinical impression of Langerhans cell histiocytosis, biopsy of the occipital lesion disclosed numerous large histiocytes with foamy cytoplasm. Several Touton giant cells with wreath-like arrangement of the nuclei were also observed. The abnormal cells expressed CD68 and factor XIIIa, but were non-reactive with S-100 protein and CD1a. Biopsy of the pituitary stalk was not performed According to the authors' literature search, this represents the first report of RDD and JXG affecting the same person.
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PMID:Rosai-Dorfman disease and juvenile xanthogranuloma in a Thai boy: report of a case. 1658 88

A 32-year-old Chinese woman presented for further investigation with a 6-year history of polyuria and polydipsia, a 4-year history of vulva ulceration and a 2-year history of gingival swelling. A biopsy of the vulva lesion showed diffuse infiltration of medium-sized cells with lobulated, grooved, vesicular nuclei. Occasional mitoses were present. The infiltrate of the cells showed reactivity with antibody to S-100 protein and CD1a, confirming the diagnosis of Langerhans' cell histiocytosis (LCH). Cephalic magnetic resonance imaging scanning revealed that an 8 x 7 x 8 mm3 large mass was located at the pituitary stalk. An X-ray film of the jaw showed sharply demarcated rarefaction of the right posterior portion of the mandible. In women with diabetes insipidus and genital ulcer, LCH should be considered in the differential diagnosis.
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PMID:Langerhans' cell histiocytosis with multisystem involvement in an adult. 1795 44

Erdheim-Chester disease (ECD), first described by Jakob Erdheim and William Chester in 1930, is a rare form of non-Langerhan's cell histiocytosis with unknown aetiology, is charaterized by systemic xanthogranulomatous infiltrative disease. To date, about 350 cases of ECD have been described in the medical literature. The typical ECD diagnostic triad is bone pain, diabetes insipidus and bilateral exophthalmos. A 24 years old man came at our attention for polydipsia with nocturnal and diurnal polyuria, anorexia, febrile episodes (38(o)C), and arthromyalgia especially in the knees. Physical examination showed bilateral periorbital xanthelasma. Blood exams showed increase of plasma osmolarity, haematocrit, sodium and urea and decrease of potassium. Urine exams showed just decreased urine specific gravity, (1.001;normal range: 1.010-1.030) suggestive for central diabetes insipidus (CDI). Brain magnetic resonance with gadolinium enhancement showed the presence of multiple hyperintense lesions expecially in neurohypophysis (swollen and with markedly contrast enhancement). All these data raised the suspision of neurosarcoidosis, so a chest and abdomen contrast enhancement computed tomography was performed, which didn't show abnormalities, making less possible the diagnosis of sarcoidosis. Two weeks later, whole-body (from head to pelvis) plus lower limbs 18-fluorine-labelled 2-deoxy-2-fluoro-D-glucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) was performed. Uptake of (18)F-FDG was observed in the upper portion of the midbrain area (SUV(max) 7.1) and the pituitary gland (SUV(max) 7.3), and diffuse bone marrow uptake of (18)F-FDG in the proximal epiphysis and metaphysis of both humeri and thigh bones (SUV(max) 6.5), shoulder blades, pelvis bones and the L2 vertebral body (SUV(max) 3.9). This (18)F-FDG PET/CT confirmed the presence of brain lesion seen in MRI , the absence of visceral lesions, but also showed the presence of an atypical bone uptake of (18)F-FDG, leading to the suspision of ECD. A technetium-99m-methyl-diphosphonate skeletal scintigraphy ((99m)Tc-MDP) scan showed diffuse uptake of the radiopharmaceutical, in the diaphysis of long bones and in the left portion of the body and the spinous process of L2. Considering the difficulties of an osteomedullary or brain biopsy, biopsy was performed on a right anterior thoracic cutaneous xanthelasma. Histology showed lipid-laden histiocytes (CD1a-, CD68+, S-100 protein -) with small nuclei, Touton giant, lymphocytic infiltrates, eosinophils and fibrosis, ECD gold standard patterns as reported in literature. The patient was discharged with the diagnosis of ECD with central nervous system (CNS) manifestations, and treatment started. The diagnosis can be lead by the most charateristic bone findings of symmetrical osteosclerosis of the long bones, especially the lower limbs (tibia and fibula), involving metaphyses and diaphyses but sparing epiphyses. The typical pattern of osteoscerosis of the long bones reflects increased osteoblastic activity. About half of all ECD patients may experience extraskeletal manifestations, including CNS. Visceral involvement in ECD is not specific, and this enforces the diagnostic value of skeletal imaging findings. Furthermore xanthomas can be found at any location on the skin, especially the eyelids as in our patient. For visceral involvement, CT is most useful, while MRI is more sensitive for CNS lesions. Involvement of CNS may be frequently revealed clinically by diabetes insipidus. Few case reports have shown that (18)F-FDG PET/CT scanning could be useful in assessing the extension of ECD lesions. Both radiography and (99m)Tc-MDP skeletal scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. The typical bone pattern of (18)F-FDG PET/CT scan is specific for ECD and (99m)Tc-MDP skeletal scintigraphy may be performed in patients in whom initial (18)F-FDG PET/CT scans present the possibility of ECD diagnosis. Others reported that (18)F-FDG PET/CT scans had good sensitivity (66.7%) and specificity (92.3%) as compared with MRI of the CNS involvement or lesions. In conclusion, the (18)F-FDG PET/CT scan and the (99m)Tc-MDP scan depicted many of the most relevant lesions of ECD for the initial assessment of ECD in our patient.
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PMID:(18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease. 2208 57

A 17-year-old male presented for dermatologic consultation with slightly elevated reddish papules covered by yellowish scales in the scalp for the last two years and reddish and indurated ulcers in the perineum lasting six months. Additional complaints included polyuria, polydipsia, delay in the development of secondary sexual characteristics and hearing loss of the right ear secondary to a medium otitis. Lesions from scalp and perineum were sampled for histopathologic examination and revealed a dense cellular infiltrate made up of mononuclear cells with conspicuous eosinophilic cytoplasm and large cleaved vesicular nucleus, some of them with shapes resembling the format of a kidney and others reminiscent of coffee beans. Numerous intermingling eosinophils were present. The diagnosis of Langerhans cell histiocytosis was then rendered and confirmed by positive immunostaining of neo-plastic cells for anti-CD1a and anti-S100 protein antibodies. The work-up revealed diabetes insipidus, hypogonadotropic hypogonadism, hiperprolactenemia, growing-hormone deficiency and thickness of the pituitary stalk. The patient was treated with prednisone and vinblastin based chemotherapy regimen for six months with complete remission, but presented recurrence of some lesions in the scalp, which were handled with topical mustard and corticosteroids. After chemotherapy, the endocrinologic disturbances were corrected with hormonal replacement therapy. The patient is currently in good health with a follow-up of five years.
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PMID:Langerhans cell histiocytosis - a case report. 2476 46

A 37-year-old woman with no remarkable medical or family history presented with papules and vesicles on an erythematous background involving the neck, sacrum, and folds (postauricular, axillary, inguinal, and under the breasts) (Figure 1). During the previous year, she was treated with local and systemic antifungals without improvement. Her history included a secondary amenorrhea, polydipsia, and polyuria (6 L/d) that started 2 years prior. Physical examination revealed chronic bilateral purulent otorrhea with thick eardrums. Histologic examination of skin biopsy revealed a highly suggestive appearance of multisystem Langerhans cell histiocytosis (LCH) with immunohistochemistry (anti-PS100 and anti-CD1a), which were positive (Figure 2A and 2B). Pituitary magnetic resonance imaging showed a thickening of the pituitary stalk in relation to a location histiocytic (Figure 3). Bone gaps were objectified on two radiographic tibial diaphyseal. Results from computed tomography (CT) scan showed a magma coelio mesenteric, axillary, and inguinal lymph nodes.
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PMID:Multisystem Langerhans Cell Histiocytosis in Adults Revealed by Skin Lesions. 2731 65

Langerhans cell histiocytosis (LCH) is a rare malignancy most commonly characterized by histiocytic infiltration of bone. LCH lesions in the skull place the adjacent central nervous system (CNS) at risk for involvement, which can manifest as central diabetes insipidus (CDI) when there is infiltration of the hypothalamic-pituitary axis. We present a case of a 39-year-old female who presented with polyuria and polydipsia for 1 year and left-sided hearing loss, gait instability, and nystagmus for 5 days. She was found on laboratory evaluation to have CDI and underwent left cortical mastoidectomy for a destructive peripherally enhancing mastoid lesion seen on MRI brain. Pathology revealed CD1a and S100+ LCH and the patient was subsequently discharged to begin outpatient chemotherapy with vinblastine and prednisone. The patient's CDI was diagnostic of CNS involvement, making her LCH multisystem through the infiltration of both the skull and hypothalamic-pituitary structures. As CDI can be seen in up to 25% of single-system LDH, and up to 50% of multisystem cases, radiologic studies to evaluate for osteolytic skull lesions must be considered as part of the evaluation for LCH when CDI has been diagnosed.
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PMID:A case of multisystem Langerhans cell histiocytosis presenting as central diabetes insipidus. 3200 62