Trichosporon inkin subcutaneous infection in a rheumatoid arthritis patient.

A 74-year-old woman presented with painful ulcerative nodules on the left forearm. She had received systemic steroid therapy for rheumatoid arthritis for several years. On physical examination, there were four hemorrhagic ulcerative nodules with a linear distribution on the left forearm (Fig. 1A). These nodules had developed over the course of 2 months, and the number of lesions had increased despite systemic antibiotic therapy. There was no sign of systemic dissemination of the disease. Biopsy of a nodule demonstrated suppurative granulomatous infiltration (Fig. 1B); the hyphae stained positive with periodic acid-Schiff (data is not shown) and Gomori-methenamine silver stains in the dermis (Fig. 1C). The biopsy specimen was cultured in Sabouraud's dextrose agar supplemented with cycloheximide with incubation at 26 degrees C. A yeast-like creamy colony grew in 1 week. The colony became yellowish gray in color and the surface folded radially after 4 weeks of incubation (Fig. 2A). Microscopic examination revealed arthroconidia and blastoconidia (Fig. 2B), and urease activity was positive. The fungus was identified as Trichosporon beigelii by yeast biochemical card (YBC, Biomerieux Vitek, Inc., Hazelwood, MO, USA). The sequences of rDNA obtained from the colony were amplified using polymerase chain reaction (PCR) primer, analyzing the sequences of the 5.8S and 28S rDNA regions for the genetic identification of the Trichosporon species. The sequences of the PCR product matched the corresponding sequences of the T. inkin strain with 99% accuracy (Fig. 2C). The patient was given oral itraconazole for 8 weeks with good clinical results.

Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo.

Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is transmitted by an X-linked recessive gene or rarely an autosomal recessive gene. Therefore it is only males who fully express the condition. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Typically there is frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and absence of teeth. Those affected show great intolerance to heat. In the current absence of effective treatment for many hereditary skin diseases, comprehensive, accurate prenatal or postnatal genetic counseling can provide information to parents at risk of having affected children. We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. Both parents and a 16-week gestational age fetus were healthy. We thought direct sequencing analysis for the ED1 gene using peripheral blood or amniotic fluid was preferable for an accurate diagnosis of this disease, although there was some risk of not detecting the mutation. After the results of this study were communicated to the parents, the mother was freed of her guilty feelings of the past 6 years and has now delivered a healthy male infant.