Aged ; Diagnosis, Differential ; Exanthema/etiology* ; Female ; Humans

A girl, aged 22 months, attended the hospital due to recurrent vulvar rashes for more than half a year. Skin biopsy showed Langerhans cell histiocytosis, and evaluation of systemic conditions showed no systemic involvement. Therefore, the girl was diagnosed with Langerhans cell histiocytosis (skin type). In conclusion, for rashes on the vulva alone, if there are no specific clinical manifestations, the possibility of Langerhans cell histiocytosis should be considered after molluscum contagiosum, sexually transmitted diseases, and Fordyce disease are excluded.
Developmental Disabilities ; Exanthema/etiology* ; Female ; Histiocytosis, Langerhans-Cell ; Humans ; Infant ; Vulvar Diseases/diagnosis*

BACKGROUNDDrug reaction with eosinophilia and systemic symptoms (DRESS) is a severe, life-threatening disorder caused by drugs. In the present study, we tried to explore the types of DRESS-inducing drugs, incubation period, features of skin rashes, accompanying visceral damage, and effectiveness of glucocorticoid therapy so as to inform clinical practice.

METHODSPatients diagnosed with a drug-induced rash, dermatitis, and DRESS admitted to our hospital from January 2006 to December 2015 were included in the study. The diagnosis followed the criteria and scoring system set by the European Registry of Severe Cutaneous Adverse Reactions. Statistical analyses were carried out using SPSS version 17.0 (IBM, Armonk, NY, USA), and a value of P < 0.05 was considered statistically significant.

RESULTSAmong 104 patients, 38 were male and 66 female (aged 18-83 years). The latent period was 13 (interquartile range [IQR]: 10-17) days. The most common allergy-inducing drugs were antibiotics (n = 37, 35.6%), followed by antiepileptic drugs and traditional Chinese medicines (TCMs). Eighty-two cases (78.8%) had rash with area >50% body surface area (BSA). Liver damage occurred in 90% of cases. Patients were divided into oral antihistamine group and glucocorticoid/immunosuppressive agent/intravenous immunoglobulin (IVIG) group. Sex, age, incubation period, duration of hospital stay, and the number of patients with body temperature ≥38.5°C were not significantly different between the two groups. However, the number of patients meeting the criteria of "definite" and "probable" (χ2 = 5.852, P = 0.016), with an eosinophilic granulocyte count of ≥1.5 × 109/L (χ2 = 7.129, P = 0.008), and with rash area of >50% BSA (χ2 = 4.750, P = 0.029), was significantly different.

CONCLUSIONSAntibiotics were associated with allergic reactions, but TCMs also had an important role. Allergy resulting from repeat use of the same drug was more severe with a shorter incubation period. The most typical rash was widespread erythematous papules. Liver damage accounted for >90% of cases.

Adolescent ; Adult ; Aged ; Anti-Bacterial Agents ; adverse effects ; Dermatitis ; diagnosis ; etiology ; Drug Hypersensitivity Syndrome ; diagnosis ; etiology ; Eosinophilia ; diagnosis ; etiology ; Exanthema ; diagnosis ; etiology ; Female ; Glucocorticoids ; adverse effects ; Humans ; Immunosuppressive Agents ; adverse effects ; Liver ; drug effects ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. Imatinib mesylate is recommended as adjuvant therapy for GIST after surgical resection. However, drug-related adverse events are common. A 74-year-old female with metastatic GIST who was managed with imatinib experienced severe adverse events, including skin rashes, tremor, and alopecia, etc. The imatinib dose was reduced and the size of the metastatic GIST continued to decrease and adverse events showed significant improvement.
Aged ; Antineoplastic Agents/adverse effects/*therapeutic use ; Exanthema/etiology ; Female ; Gastrointestinal Neoplasms/diagnosis/*drug therapy/pathology ; Gastrointestinal Stromal Tumors/diagnosis/*drug therapy/pathology ; Humans ; Imatinib Mesylate/adverse effects/*therapeutic use ; Immunohistochemistry ; Proto-Oncogene Proteins c-kit/metabolism ; Tomography, X-Ray Computed

Aged, 80 and over ; Exanthema ; etiology ; Female ; Humans ; Leukemia, Monocytic, Acute ; pathology ; Leukemic Infiltration ; complications ; diagnosis ; Skin ; pathology

OBJECTIVETo improve the recognition of the clinical presentation and radiologic manifestation of children with Langerhans cell histiocytosis (LCH) with pulmonary involvement.

METHODA retrospective analysis was conducted on children who presented with respiratory symptoms or abnormal lung radiologic findings, and finally diagnosed with LCH in Ward 2 of Divison of Respiratory Diseases, Beijing Children's Hospital during the last 4 years.

RESULTFourteen children (10 boys and 4 girls) were included in this study. Male to female ratio was 2.5: 1. The median age was 1.3 years. Pulmonary involvements were coexisted with other involved organs in all the patients, such as skin (10 cases, 71%), liver (8 cases, 57%), and bone involvement (7 cases, 50%). The most common symptoms were cough and fever (7 cases, 50%). Respiratory symptoms were nonspecific, and 3 children had no respiratory symptom but abnormal findings on lung high-resolution CT (HRCT). The most common HRCT finding was the coexistence of nodules and cysts (6 cases, 43%). Other findings include cysts only (5 cases, 36%), nodules only (1 case), and with neither nodule nor cyst (2 cases, 14%). Pneumothorax was found in 7% of children.

CONCLUSIONPulmonary involvement in children with LCH is easily misdiagnosed, and often coexisted with other involved tissues/organs such as skin and liver. Rash, which is easily missed in physical examination is very important for the diagnosis of LCH. The characteristic findings of lung HRCT (nodules and/or cysts) are helpful for diagnosis.

Child ; Cough ; etiology ; Cysts ; Diagnostic Errors ; Exanthema ; etiology ; Female ; Fever ; etiology ; Histiocytosis, Langerhans-Cell ; complications ; diagnostic imaging ; Humans ; Infant ; Liver ; Lung Diseases ; diagnostic imaging ; Male ; Retrospective Studies ; Skin ; Tomography, X-Ray Computed

OBJECTIVEBlau syndrome (BS), an autosomal dominant inherited autoinflammatory disease, is caused by NOD2 mutations. This study aimed to analyze NOD2 gene of suspected BS patients to make definite diagnosis, find NOD2 mutation types and clinical features of Chinese BS cases, and find some clinical indications to identify BS by comparing BS and non-BS cases.

METHODEighteen suspected BS children (7 boys and 11 girls, age of first visit was from 1 y 8 m to 9 y 6 m) who visited Peking Union Medical College Hospital from 2006 to 2014 and their parents's DNA were extracted from 4 ml blood specimens. PCR was performed for exon 4 of NOD2 and PCR products were purified by 2% gel electrophoresis and sequenced directly. Role of novel missense mutations in pathogenicity was analyzed by SIFT and sequencing NOD 2 of fifty normal controls. Clinical data of BS children diagnosed by NOD2 analysis were summarized and compared with the data of non-BS group.

RESULT(1) Twelve of eighteen suspected BS children were diagnosed as BS by NOD2 analysis, and the remaining 6 were excluded. Seven missense mutations were detected, 4 were reported before: c.1000C>T, p. Arg 334Trp; c.1001G>A, p. Arg334Gln; c.1538T>C, p. Met513Thr; c.1759C>T, p. Arg587Cys. Three novel mutations were found: c. 1147 G>C, p.Glu383Gln; c.1471A>T, p. Met491Leu; c.2006A>G, p.His669Arg. (2) Chronic symmetric arthritis and multi-joints periarticular hydatoncus, which were painless with fluctuation, were found in all 12 BS children with NOD2 mutations. Skin rash, chronic symmetric arthritis, and recurrent uveitis were identified in 7 patients. Three patients had no skin rash, while 1 had no uveitis, 1 only had symmetric arthritis and multi-joints periarticular hydatoncus. Four children inherited the disease from father. (3) Compared with other 6 non-BS children, BS children had such different clinical characteristic (P < 0.05): All the BS cases had multiple periarticular hydatoncus, which always had no persistent fever, most had no elevated CRP, while non-BS group always had no hydatoncus, most had persistent fever, all had elevated CRP.

CONCLUSIONThe 12 BS children were diagnosed by NOD2 analysis; 7 missense mutations were detected, 3 were novel mutations, adding new findings to human NOD2 mutations. Although classic BS was characterized by skin rash, arthritis, and eye involvement, some presented with less than 3 of the classic features. Chronic symmetric arthritis and multi-joints periarticular hydatoncus were the most comment fetures. Comparing with non-BS group, all BS cases had multi hydatoncus surrounding multi-joints, always had no persistent fever, most had no elevated CRP. Those features may distinguish BS in clinical settings.

Arthritis ; etiology ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Child ; Child, Preschool ; Cranial Nerve Diseases ; complications ; genetics ; Exanthema ; etiology ; Exons ; genetics ; Female ; Humans ; Infant ; Male ; Mutation ; genetics ; Mutation, Missense ; Nod2 Signaling Adaptor Protein ; genetics ; Synovitis ; complications ; genetics ; Uveitis ; complications ; etiology ; genetics

There have been a number of studies about correlations between HLA genotypes in various ethnic groups and occurrence of various cutaneous adverse drug reactions, ranging in intensity from mild to severe, caused by antiepileptic drugs (AEDs). This is the first report analyzing the HLA genotypes of 9 Korean patients with skin rashes induced by various AEDs. The AEDs that induced skin rash were lamotrigine (n=3), carbamazepine (n=3), oxcarbazepine (n=1), phenobarbital (n=1), and phenytoin (n=1). None of the patients' HLA genotypes was either HLA-B*1502 or HLA-A*3101. Based on these series of cases, AED-induced skin rash can occur independently of HLA-B*1502 or HLA-A*3101 genotypes in the Korean patients.
Adolescent ; Adult ; Aged ; Alleles ; Anticonvulsants/*adverse effects ; Asian Continental Ancestry Group/*genetics ; Exanthema/*diagnosis/etiology ; Female ; Gene Frequency ; Genotype ; HLA-A Antigens/*genetics ; HLA-B Antigens/*genetics ; Humans ; Male ; Republic of Korea ; Young Adult

The triad of rash, arthritis, and uveitis seems to be characteristic for early-onset childhood sarcoidosis. We describe an interesting case of early-onset childhood sarcoidosis coexisting enchondromatosis, which clinically masquerade as Langerhans cell histiocytosis. A 33 months old girl presented with skin rash, subcutaneous nodules with polyarthritis, and revealed the involvement of lymph nodes as well as spleen during work-up. She also presented with multiple osteolytic lesions which pathologically proven enchondromatosis. Oral prednisone was prescribed at 2 mg/kg/day for 2 months until when subcutaneous nodules and joint swellings almost disappeared, and then slowly tapered over a period of 5 months. We report an unusual case of early-onset childhood sarcoidosis presented with osteolytic bone lesions which were irrelevant to sarcoidosis.
Administration, Oral ; Anti-Inflammatory Agents/therapeutic use ; Arthritis/complications ; Child, Preschool ; Diagnosis, Differential ; Enchondromatosis/*complications/*diagnosis/drug therapy/radiography ; Exanthema/etiology ; Female ; Humans ; Positron-Emission Tomography and Computed Tomography ; Prednisone/therapeutic use ; Sarcoidosis/*complications/*diagnosis/drug therapy/radiography ; Whole Body Imaging

OBJECTIVETo study the Chinese medicine (CM) syndrome laws of patients with pruritic papular eruption (PPE), thus providing reference for its classification and standard diagnosis.

METHODSUsing multicenter, prospective trials in 346 PPE patients,the correlations between sex, age, infection route, and CD4 levels and CM syndrome patterns were analyzed. The syndrome laws correlated with PPE was studied from the macroscopic and microscopic aspects.

RESULTSThere was no statistical difference in sex, age, or CD4 level among various CM syndrome patterns. There was statistical difference in the infection route among various CM syndrome patterns. Pi-deficiency dampness-accumulation syndrome occurred more in patients infected by blood. Wind production induced by heat in blood syndrome occurred more in those infected by sexual contact. Blood deficiency wind dryness syndrome occurred in those infected by intravenous drug abuse.

CONCLUSIONSWind production induced by heat in blood syndrome, blood deficiency wind dryness syndrome, and Pi-deficiency dampness-accumulation syndrome exist in CM syndrome types of AIDS. There was statistical difference in different infection routes of the distribution of each syndrome type.

Acquired Immunodeficiency Syndrome ; complications ; diagnosis ; Adolescent ; Adult ; Exanthema ; diagnosis ; etiology ; Female ; Humans ; Male ; Medicine, Chinese Traditional ; Middle Aged ; Prospective Studies ; Pruritus ; diagnosis ; etiology ; Young Adult