Sea-blue or ceroid histiocytosis is a storage phenomena associated with a variety of conditions especially abnormal lipid metabolism and particularly hyperlipoproteinemia. It is characterized by histiocytic proliferation in the bone marrow and spleen, contain-ing sea-blue inclusions by Romanovsky stain. The present case is a 1 1/2 year-old Korean boy who had marked enlargement of the spleen which was eventually removed. Aspirates of the bone marrow and histology of the spleen disclosed an enormous proliferation of histiocytes containing numerous cytoplasmic inclusions which stained sea-blue with Wright stain, was strongly positive to PAS and weakly positive to oil red-O and Sudan black B in frozen and in paraffin embedded section. Ultrastructually histiocytes were marked1y hypertrophic and contained numerous cytoplasmic inclusions which showed three distinct types and conglomeration of all three types, presumably representing age or maturation steps of the inclusions. The ear1y type consisted of a high electron dense core or deposits within a low electron dense matrix, evolving into homogeneous moderately electron dense inclusion and finally a well developed finger print-like internal structure. Analysis of the plasma lipid disclosed type IIb hyperlipoproteinemia. Types of hyperlipoproteinemia previously reported in association with sea-blue histiocytosis were type-I, III, IV and V, and this is the first case of type IIb hyperlipoproteinemia.
Child, Preschool ; Human ; Hypercholesterolemia, Familial/complications* ; Hypercholesterolemia, Familial/pathology ; Male ; Sea-Blue Histiocyte Syndrome/complications* ; Sea-Blue Histiocyte Syndrome/pathology ; Spleen/pathology

A study was made on 258 cases of cysticercosis, that were examined and diagnosed at the Department of Pathology, College of Medicine, Seoul National University during a period of 9 years from 1968 to 1976 inclusive. There were a total of 35,363 surgical specimens examined during the same period, thus revealing the relative frequency ratio of cysticercosis among surgical accessions to be 0.73%. The common sites of involvement of cysticercosis were skeletal muscle, subcutaneous tissue, breast, brain and eye in decreasing order of frequency. Painless palpable nodules were the most common initial presentation clinically. Histopathological staging was attempted based on the host tissue reaction and worm morphology. It was arbitrarily classified into early, intermediate and late stages. In general the morphology of the parasite consisted of a well preserved and compact calcospherules with intact subcuticular muscle layer in the early stage, showing a progressive deterioration of parasitic structures, finally undergoing resorptive process or mummification. The host tissue reation in the early stage was characterized by a diffuse epithelioid cell proliferation with lymphocytic and eosinophilic infiltration without capsule formation. The intermediate stage consisted of a diffuse histiocytic proliferation with well formed outer collagen capsule. The latestage revealed mostly thinned out, well collagenized capsule with scanty lymphocytic infiltration. The parasite in the well formed cyst as usually distorted and often mummified. But the hooklets were relatively preserved up to the late stage. These finding suggest that the host tissue reacts to the cysticercus worm in fairly uniform fashion, and this fashion appears to have a sequence, i.e., violent lymphohistiocytic response in the initial phase of infection, and undergoing a gradual fibrotic (encapsulating) self-limiting course, finally being stabilized by a dense, acelluar collagen capsule or collapse and absorption.
parasitology-helminth-cestoda ; Taenia solium ; cysticercosis ; histology ; pathology ; collagen ; histiocyte ; lymphocyte

Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative disease of infancy, type B NPD patients have little or no neurodegeneration, and frequently survive into adulthood. Although over 100 mutations have been found within the SMPD1 gene causing NPD, there was only one report about SMPD1 mutation status of a Korean NPD patient. We report a case of a 32-yr-old female, who presented with thrombocytopenia without any neurologic involvement. Hepatosplenomegaly was detected by both physical examination and imaging studies, and a thoracic radiograph examination showed a pattern of interstitial lung disease. Biochemical tests revealed increased liver enzymes, cholesterol, triglyceride, and LDL-cholesterol, and decreased HDL-cholesterol. Sea-blue or foamy vacuolated histiocytes occurred in bone marrow and liver. Sequencing analysis of SMPD1 using genomic DNA from peripheral leukocytes identified a compound heterozygote of two mutations at exon 2: p.E246K and p.A357V. The former is a known mutation in an Italian patient, and the latter has not been reported yet. She has received oral rosuvastatin to treat hyperlipidemia at a dose of 10 mg per day for 4 months. This is the second report in which the mutation of SMPD1 gene was detected in a Korean NPD patient. The active genetic analysis of SMPD1 gene in patients with typical findings of type B NPD would enable us to facilitate diagnosis as well as to accumulate data on molecular characteristics of Korean NPD patients.
Adult ; Base Sequence ; Bone Marrow Cells/pathology ; Female ; Humans ; Korea ; Liver/pathology ; Niemann-Pick Disease, Type B/*diagnosis/genetics/radiotherapy ; Pregnancy ; Sea-Blue Histiocyte Syndrome/diagnosis/pathology ; Sequence Analysis, DNA ; Sphingomyelin Phosphodiesterase/genetics ; Tomography, X-Ray Computed

No abstract available.
Bone Marrow* ; Dermatoglyphics* ; Histiocytes*

Langerhans cell histiocytosis (LCH) encompasses a wide range of clinical presentation and its clinical course varies widely from spontaneous regression to severe disseminated disease with the risk of permanent consequences. Although pathogenesis of LCH has been a conundrum, recent advances have led to a better understanding of the molecular pathogenesis of the disease. Especially, advanced genomic analyses have suggested that LCH is a disorder of MAPK pathway mutations. Optimal treatment for LCH has not been established yet. Histiocyte Society has launched a new international multi-center clinical trial, LCH-IV to solve remaining major issues in the treatment of LCH. The aim of this review is to provide an overview of recent understandings on the pathogenesis and treatment of LCH.
Histiocytes ; Histiocytosis, Langerhans-Cell

A xanthogranuloma is a self-limiting, benign disorder that is caused by the proliferation of histiocytes. It usually develops on the face, scalp, and upper extremities, but rarely develops in the ear. Only two cases of xanthogranuloma of the ear have been reported in the literature. We present a xanthogranuloma on the concha of the Lt. ear in a 14-year-old boy.
Adolescent ; Ear ; Histiocytes ; Humans ; Scalp ; Upper Extremity

Adult xanthogranuloma is nearly indistinguishable from juvenile xanthogranuloma characterized by yellow-red nodules on the skin, normal lipid findings and the proliferation of xanthomatizied histiocytes with foamy Touton cells, histologically. But unlike juvenile xanthogranuloma, there is no visceral involvement, spontaneous regression and more solitary lesions. Multiple adult xanthogranulomas are rare entities that present more spontaneous involution. Here we report a case of a 39-year-old patient with multiple xanthogranulomas which developed on the face, trunk and extremities. Diagnostic workup revealed normal lipid profile and no extracutaneous manifestations.
Adult* ; Extremities ; Histiocytes ; Humans ; Skin ; Xanthogranuloma, Juvenile

We report a case of multiple xanthogranuloma occurring ori the scalp in a 33 years old wornan. Multiple yellowish papules were developed on her scalp 3 months ago. Histopathologic findings showed massive granulomatous infiltrations of foamy histiocytes Touton giant cells in the dermis, and these cells were positive for lipid stain. This case was considered to be multiple xanthogranuloma in an adult, and treated by sur- gical excision.
Adult* ; Dermis ; Giant Cells ; Histiocytes ; Humans ; Scalp

Malignant fibrous histiocytoma is uncommon pleomorphic tumor of the soft tissues possibly arising from the histiocyte. A case of malignant fibrous histiocytoma of the retroperitoneum stimulated our interest in this uncommon and pathologically intriguing lesion. So we report a case of malignant fibrous histiocytoma in the retroperitoneal space.
Histiocytes ; Histiocytoma ; Histiocytoma, Malignant Fibrous* ; Retroperitoneal Space

Malignant fibrous histiocytoma is an uncommon pleomorphic tumor of the soft tissues possibly arising from the histiocyte. A case of huge malignant fibrous histiocytoma weighing 10.2kg in the retroperitoneal space is reported with brief review of literatures.
Histiocytes ; Histiocytoma ; Histiocytoma, Malignant Fibrous* ; Retroperitoneal Space