A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.

A nerve growth factor receptor encoded by the TRKA gene plays an important part in the formation of autonomic neurons and small sensory neurons in dorsal root ganglia and in signal transduction through its intracytoplasmic tyrosine kinase domain. Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. We examined the TRKA gene in five generations of a large Japanese family with many consanguineous marriages who live in a small remote island of the southern part of Japan. We found a novel point mutation at nucleotide 1825 (A-->G transition) resulting in Met-581-Val in the tyrosine kinase domain. Two of the three affected patients were homozygous for this mutation; however, the third affected patient was heterozygous. Further analysis revealed that the third patient was a compound heterozygote with the Met-581-Val mutation in one allele and with a single base C deletion mutation at nucleotide 1726 in exon 14 in the other allele, resulting in a frameshift and premature termination codon.

Case of dermatofibroma with monster cells: a review and an immunohistochemical study.

We report a dermatofibroma with monster cells. The patient was a 79-year-old woman who had a dark-brown nodule of her left leg for approximately 3 years. The lesion was composed of spindle-shaped fibroblastic cells, histiocytic cells, and multinucleated giant cells. Most of the histiocytic cells had foamy cytoplasm with numerous hemosiderin deposits. In addition to these cells, bizarre multinucleated cells with markedly hyperchromatic nuclei and xanthomatous cells with very large nuclei (monster cells) were also noted. No mitotic figures of the cellular components were present. This lesion has been shown to be completely benign despite the presence of pleomorphic or bizarre cells. From a clinical standpoint, recognition of a benign lesion of this type is very important since an incorrect histologic interpretation could result in inappropriate treatment.

A case of adult T-cell leukemia/lymphoma (ATLL) with angiocentric and angiodestructive features.

This report describes a case of adult T-cell leukemia/lymphoma (ATLL) with angiocentric and angiodestructive features. The patient was a 66-year-old Japanese woman who began developing widespread skin lesions ten months prior to admission. The diagnosis of ATLL was made on the basis of her having an antibody to human T-cell lymphotropic virus type-1 (HTLV-1) and typical flower cells (ATLL cells) in peripheral blood smears. Once hospitalized, the course of her disease was very acute and severe, as is seen with angiocentric lymphoma. Based on histological features, this case was judged not to be angiocentric lymphoma; however, it may lie within the spectrum of angiocentric immunoproliferative lesions (AIL). The findings in this case strongly suggest that HTLV-1 can be a pathogenic factor in the expression of angiocentric and angiodestructive features in ATLL, as is Epstein-Barr virus (EBV) (1-4). To our knowledge the present case is the sixth reported in the literature of lymphoma in which these features are associated with HTLV-1 infection (5-7).

SLE with death from acute massive pulmonary hemorrhage caused by disseminated strongyloidiasis.

We describe a case of disseminated strongyloidiasis involving a female patient with active systemic erythematosus (SLE). The cause of death was massive pulmonary hemorrhage induced by a filariform larvae infection. This was initially diagnosed during examination of the bronchoalveolar lavage fluid just 2 days before her death. The case indicated that immunosuppressed individuals would be paid attention to possible parasitic infection prior to starting therapy even in non-endemic areas as well as other microorganisms.

Successful treatment of scleroderma with PUVA therapy.

PUVA therapy was carried out on four patients with scleroderma; three of them had cutaneous manifestations of progressive systemic sclerosis and one other exhibited generalized morphea. PUVA therapy was given with daily doses of 0.25J/cm2 or 0.4J/cm2 for 3-8 weeks, resulting in total doses between 3.5J/cm2 and 9.6J/cm2. All four patients responded well to this treatment; improvements of hand closure, skin sclerosis index, and flexion of fingers or knee joints were obtained. Thus, PUVA appeared to be beneficial for treating scleroderma.