Congenital self-healing reticulohistiocytosis (CSHRH) is a rare Langerhans cell disorder usually showing spontaneous resolution within 3-4 months. By electron microscopy, the identification of Birbeck granules and laminated dense bodies in the infiltrated cells is mandatory for the diagnosis of CSHRH. However, in some reported cases, Birbeck granules could not be demonstrated and only cytoplasmic dense bodies were seen. If the lesion is more advanced, Birbeck granules are transformed to lysosomes, i.e., 'unique phagosomes', in which they are degraded. A 2-month-old Korean girl presented with congenital, numerous red-brown pigmented papules on the left side of trunk and upper extremity without systemic symptoms. A biopsy specimen demonstrated papillary dermis containing epidermotropic infiltrates of histiocytes with abundant eosinophilic cytoplasm. Some had kidney-shaped nuclei and PAS-positive cytoplasmic inclusions. Immunohistochemically, infiltrating cells expressed S-100 protein and ultrastructurally, no Birbeck granules but many dense laminated bodies and unique phagosomes were found. It was ten months since the skin lesions developed that they have started resolving.
Biopsy ; Cytoplasm ; Dermis ; Diagnosis ; Eosinophils ; Female ; Histiocytes ; Humans ; Inclusion Bodies ; Infant ; Lysosomes ; Microscopy, Electron ; Phagosomes ; S100 Proteins ; Skin ; Upper Extremity

Purpose: To report a case of glaucoma progression in highly myopic eyes with paravascular inner retinal defects.Case summary: Retinal nerve fiber layer (RNFL) defects with cleavage-like irregular margins and internal areas were found around the retinal vessels in highly myopic eyes of a 17-year-old female. On suspicion of paravascular inner retinal defect (PIRD) instead of glaucomatous RNFL defect, observation without treatment was recommended. After 10 years of follow-up, RNFL defects and neuroretinal rim thinning were found around the pre-existing PIRD on fundus photographs. Optical coherence tomography also revealed decreased RNFL thickness. Conclusions Glaucomatous changes progressed around the pre-existing PIRD area over the 10-year follow-up. This indicates the need for caution when assessing glaucoma in highly myopic eyes with PIRD.

Purpose: To evaluate the dynamic range of retinal nerve fiber layer (RNFL) and optic nerve head (ONH) parameters measured using optical coherence tomography (OCT) in conditions ranging from nonglaucomatous status to advanced glaucoma by longitudinal observation. Methods: A total of 15 eyes from 12 participants with glaucoma progression from a nonglaucomatous status to advanced glaucoma were included. The RNFL and ONH parameters were compared between the nonglaucomatous and advanced stages within the same eye. The absolute and relative changes in OCT parameters were analyzed. Results: The median highest intraocular pressure was 42.5 mmHg (interquartile range, 37.5 to 54.5 mmHg), and the final mean deviation of the visual field test was –24.68 dB (interquartile range, –23.93 to –31.13 dB). The median relative changes in RNFL thickness were –40.6% in the overall area, and –51.9%, –21.4%, –51.1%, and –41.8% in the superior, nasal, inferior, and temporal quadrants, respectively (all p < 0.05). Relative changes in the rim area, disc area, average cup to disc ratio, vertical cup to disc ratio, and cup volume were –56.64%, 0.59%, 62.10%, 66.0%, and 337.90%, respectively (all p < 0.05, except for disc area with a p-value of 0.753). Conclusions The dynamic range of the RNFL thickness ranged from 40.6% to 51.9%, and the dynamic range of the ONH parameters ranged from 56.64% to 337.90%. During the course of glaucoma progression, the cup volume showed the widest dynamic range. However, the disc area did not show significant changes.

We experienced three cases of arteriovenous hemangioma in middle-aged patients. Each of them an asymptomatic small red to purple papule on the face and arm, which showed typical microscopic features of proliferating variously sized vessels in the dermis. An interesting finding was the increased number of mast cells identified in the stroma and perivascular channels, which may be associated with angiogenesis in inflammatory and neoplastic processes. Although arteriovenous hemangioma has been reported infrequently, its true incidence is considered to be higher than expected. Thus biopsy should be performed for exact diagnosis of small vascular lesions.
Arm ; Biopsy ; Dermis ; Diagnosis ; Hemangioma* ; Humans ; Incidence ; Mast Cells ; Neoplastic Processes

BACKGROUND: Childhood atopic dermatitis(AD) has a profound effect on the quality of life, disturbing family and social relationships. Stressful familial condition from the child's AD may aggravate AD itself but no information concerning the effect of childhood AD on family function is available in Korea. OBJECTIVES: The aim of this study was to show how AD effects families, to identify the areas of life most affected and to evaluate the relationship between the effect and severity of AD. METHOD: The 10-questionnaire item(Dermatitis Family Impact questionnaire[DFI]) with assessment of severity of AD was studied in AD patients and compared with control subjects. RESULTS: The average of the total score of the DFI questionnaire in the AD group was significantly higher than that of the control group (P<0.05) and was linearly related with AD severity, but not as highly (R2=0.161, P=0.003). The highest scoring question in the 10 questions of the DFI questionnaire was that of causing physical tiredness or mental exhaustion, and the lowest, that of time spent on shopping for the family. CONCLUSION: There is an obvious need to identify and to reduce the suffering of families of children with AD. The DFI may potentially be of value to help guide appropriate management of AD and as an added parameter in clinical trials concerning AD management.
Child ; Dermatitis, Atopic* ; Humans ; Korea ; Quality of Life ; Surveys and Questionnaires