Hiroki Matsuura

Kayser–Fleischer ring: Wilson’s disease

A 53-year-old woman presented with a hand and neck tremor to our outpatient department. The patient denied consuming tobacco, alcohol, or other recreational drugs. She also denied any loss of consciousness, head injury, seizure, or other neurological problems. On physical examination, percussion was dull and hepatomegaly was suspected. Slit lamp examination revealed bilateral Kayser–Fleischer rings (Figure 1). Her serum ceruloplasmin level was low. Subsequently, she had a previous medical history of untreated Wilson’s disease and cirrhosis for 40 years. Wilson’s disease is an autosomal-recessive disorder caused by a mutation in ATP7B, thereby downregulating expression of ceruloplasmin (and consequently, its levels in the serum)—a copper transporting protein. Wilson’s disease occurs in about 1 in 40 000 individuals. In general, symptoms usually manifest between the ages of 5 and 40 years. However, neuropsychiatric symptoms of Wilson’s disease vary widely among individual patients. These symptoms include cognitive deterioration, behavioral changes, hand tremor and dementia, and signs such as dystonia and seizures. These symptoms are sometimes confused with other disorders ranging from depression to schizophrenia, and are hence often misdiagnosed. Kayser–Fleischer rings are the most important diagnostic sign, and are observed in over 90% of patients with Wilson’s disease. Untreated Wilson’s disease has progressive, irreversible consequences and finally results in death. Clinicians should consider this rare hereditary disease and never overlook it.

An imported case of leprosy in a trainee from Indonesia to Japan

A 33-year-old Indonesian man who was visiting Japan as a trainee in agricultural sector presented to the outpatient department of dermatology with a 1-year history of progressive rash. The rash had originated on his trunk and had gradually spread to his chest, abdomen, back and arms (Figure 1). The patient was not on any medications. He also denied any history of an allergy. Polymorphic, confluent, partially raised, hypopigmented macules that had progressed slowly were observed. The lesions demonstrated associated scaling, alopecia, and anesthesia. Although a left greater auricular nerve enlargement was detected, the patient did not show muscle weakness in his extremities. Skin biopsy specimens were obtained and analyzed using polymerase chain reaction, Mycobacterium leprae DNA was detected in samples obtained from hypopigmented macules. Thus, the patient was diagnosed with leprosy of the borderline lepromatous type. He was treated with multidrug therapy (rifampicin, clofazimine and diaminodiphenyl sulfone), which is established as the mainstay for leprosy treatment by the World Health Organization (WHO). The patient was followed up in the outpatient clinic. One year later, his skin lesions were faded. Leprosy control has improved significantly due to national and subnational campaigns in most endemic countries. According to official WHO reports, the number of new cases reported globally in 2015 was 211 973 (2.9 new cases per 100 000 people). Although leprosy is almost eliminated from developed countries, younger clinicians should be cautious regarding this historical and notorious disease and not overlook it.