OBJECTIVE: To explore the genetic basis for a child with café-au-lait macules and juvenile xanthogranuloma. METHODS: Clinical data and peripheral blood samples of the patient and her family members were collected and subjected to targeted capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: A deletional variant in exon 23 of the NF1 gene was detected in the proband. Sanger sequencing has verified it as a de novo variant, which was highly correlated with the clinical manifestations of the patient and her mother. The diagnosis of neurofibromatosis 1 (NF1) was established. The variant was unreported previously. CONCLUSION Targeted capture and next-generation sequencing combined with Sanger sequencing can facilitate early diagnosis of NF1 and provide a basis for the clinical treatment, genetic counseling and prenatal diagnosis.
Child ; Female ; Humans ; Cafe-au-Lait Spots/genetics* ; Genes, Neurofibromatosis 1 ; Neurofibromatosis 1/genetics* ; Xanthogranuloma, Juvenile/genetics*

No abstract available.
Diagnosis, Differential ; Histiocytoma, Benign Fibrous ; Xanthogranuloma, Juvenile

BACKGROUND: Juvenile xanthogranuloma is a benign, self-limited disorder that usually occurs in infants and young children. Xanthogranuloma is rare in adults, and therefore studies reporting adult xanthogranuloma are limited. OBJECTIVE: We investigated the clinical, histopathological, and immunohistochemical characteristics of adult xanthogranuloma. METHODS: In this study, we evaluated 20 lesions in 19 patients with adult xanthogranuloma. RESULTS: A male predominance was observed (male : female ratio 1.4 : 1), and the mean age of patients was 35.1±16.3 years (range 15∼66 years), with the peak incidence observed in patients in their 20s. Notably, 65.0% of the lesions developed on the head and neck. The nodular form was more common than the papular form of this condition. Histopathological examination revealed dense monomorphic histiocytic infiltration without lipidization and scattered eosinophils without multinuclear giant cells in 5 lesions (25.0%), foamy histiocytic infiltration with variations of completely developed Touton giant cells in 10 lesions (50.0%), and fibrohistiocytic proliferation in 3 lesions (15.0%). On immunohistochemical examination, histiocytes including giant cells showed positive test results with Factor XIIIa (90.9%), vimentin (100%), and CD68 (100%) and negative test results with CD1a, smooth muscle actin, and S-100 protein stains. Tumor excision was the treatment for choice. CONCLUSION: Adult xanthogranuloma most commonly manifested as the nodular form of the disease on the head and neck of men in their late 20s. Histopathologically, the classic Touton cell-rich stage was most commonly observed, followed by the stage of early predominantly mononuclear infiltration. This was a single-center, small-sized retrospective study; however, we expect the results of this study to contribute to a better understanding of adult xanthogranuloma.
Actins ; Adult ; Child ; Coloring Agents ; Eosinophils ; Factor XIIIa ; Female ; Giant Cells ; Head ; Histiocytes ; Humans ; Incidence ; Infant ; Male ; Muscle, Smooth ; Neck ; Retrospective Studies ; S100 Proteins ; Vimentin ; Xanthogranuloma, Juvenile

No abstract available.
Male ; Penis* ; Xanthogranuloma, Juvenile*

No abstract available.
Xanthogranuloma, Juvenile*

No abstract available.
Adult* ; Humans ; Xanthogranuloma, Juvenile*

No abstract available.
Adult* ; Humans ; Xanthogranuloma, Juvenile*

No abstract available.
Xanthogranuloma, Juvenile*

To Study Juvenile xanthogranuloma (JXG) in the nasal cavity, raise the level of diagnosis and treatment for this disease. We reported a case with JXG and reviewed the literatures. JXG in nasal vestibule is ex tremely rare. Only three cases were reported before. After surgical removal,no recurrence was found over a 10-month follow-up. Clinical manifestations and imaging examination is nonspecific for JXG, and the diagnosis of the disease relies on pathological examination. Surgical resection is an effective treatment method.
Humans ; Infant ; Male ; Nasal Cavity ; Xanthogranuloma, Juvenile

Anetoderma is characterized by a loss of normal elastic tissue, and is clinically presented as atrophic patches located mainly on the upper trunk. It may be primary or secondary, occurring in the course of various dermatoses. The most common diseases among them are acne and varicella, but there are several reports about other skin diseases causing anetoderma. A 16-year-old girl visited our clinic for the evaluation of asymptomatic atrophic macules on the head, upper trunk and lower extremities. She had a 10-month history of yellowish brown papules located on the same area fifteen years ago. Histopathologic findings at that time showed histiocytic infiltration with foam cells and Touton giant cells in the dermis, which were consistent with juvenile xanthogranuloma (JXG). Skin biopsy was carried out at an atrophic macule; histologic findings revealed a decrease in dermal elastic fibers. All these findings were compatible with anetoderma. To our knowledge, this case is the first report of anetoderma developed in JXG in Korea.
Acne Vulgaris ; Adolescent ; Anetoderma* ; Biopsy ; Chickenpox ; Dermis ; Elastic Tissue ; Female ; Foam Cells ; Giant Cells ; Head ; Humans ; Korea ; Lower Extremity ; Skin ; Skin Diseases ; Xanthogranuloma, Juvenile*