Kaoru Umeki

Coexistence of Generalized Morphea with Histological Changes in Lichen Sclerosus et Atrophicus and Lichen Planus

We reported a 44‐year‐old Japanese woman with generalized multiple sclerotic plaques, which showed hisological findings of morphea. This patient also had an erosive lesion on her mouth; its histological findings were consistent with lichen planus. A sclerotic lesion on her thigh showed the histological findings of lichen sclerosus et atrophicus (LSA). These data suggest that similar etiologic events or closely related pathologic processes are involved in morphea, lichen planus, and LSA.

A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is caused by an aberration of the keratin intermediate filaments and recent studies indicated causal mutations in the keratin K14 and K5 genes. In this study, we examined keratin K14/5 gene mutation in a Japanese patient with EBS Dowling-Meara (EBSDM). The patient had a C to T transition at the first position of codon 125, which resulted in Arg-->Cys at the N-terminus of the rod domain in the keratin K14 gene. The mutation position described here was identical to those reported in some other EBSDM patients. Our result revealed mutation in the peptide initiating helical structure of keratin K14 and, together with the results of other workers, suggests that the mutation in the keratin K14 gene of EBSDM sufferers occurs in virtually every ethnic group and geographical area.

A KERATIN K10 GENE MUTATION IN A JAPANESE PATIENT WITH EPIDERMOLYTIC HYPERKERATOSIS

SummaryEpidermolytic hyperkeratosis (EHK), or bullous congenital ichthyosiform erythroderma, is characterized by generalized erythroderma, ichthyosiform skin and blistering, and is caused by an aberration of the keratin intermediate filaments. In this study, we examined keratin K10 and 1 gene mutations in a Japanese EHK patient who had severe ichthyosiform erythroderma at birth and developed subsequent blistering. The patient had a G to A transition at codon 156 of the keratin K10 gene, which resulted in an arginine (Arg)→histidine (His) substitution in the helix initiation peptide of the highly-conserved 1A domain in keratin K10. This is the first mutation report of a Japanese patient with EHK, although the position and mode of the mutation identified here did not differ from those in reported Western cases.

Sarcoidosis developing after stopping oral prednisolone for systemic lupus erythematosus.

1. Bobo RA, Newton EJ. A previously undescribed Gram-negative bacillus causing septicemia and meningitis. Am J Clin Pathol 1976; 65: 564 ± 569. 2. Lion C, Escande F, Burdin JC. Capnocytophaga canimorsus infections in humans: review of the literature and case reports. Eur J Epidemiol 1996; 12: 521 ± 533. 3. Griego RD, Rosen T, Orengo IF, Wolf JE. Dog, cat, and human bites: a review. J Am Acad Dermatol 1995; 33: 1019 ± 1029. 4. Sweet RD. An acute febrile neutrophilic dermatosis. Br J Dermatol 1964; 74: 349 ± 356. 5. Von den Driesch P. Sweet’s syndrome (acute febrile neutrophilic dermatosis). J Am Acad Dermatol 1994; 31: 535 ± 556. 6. Su WP, Liu HN. Diagnostic criteria for Sweet’s syndrome. Cutis 1986; 37: 167 ± 174.

Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa

Type VII collagen, a major component of anchoring fibrils in the basement membrane zone, is now considered to be a primary genetic factor in the pathogenesis of dominant dystrophic epidermolysis bullosa (DDEB). In this study, we performed genetic linkage analysis in a Japanese family with DDEB using a PvuII polymorphism in the type VII collagen gene. The pedigree consisted of 10 affected and 13 unaffected living individuals and was diagnosed as having Cockayne-Touraine type of DDEB. Electron microscopic examination of the skin demonstrated a diminished number and rudimentary structure of anchoring fibrils. PCR-based detection of PvuII polymorphism resulted in 3 genotypes and co-segregated with DDEB phenotype in this pedigree. The maximum lod score was 2.10 at recombination fraction (theta) of 0. The absence of recombination between DDEB and type VII collagen gene locus, as well as the observation of altered anchoring fibrils, suggested that type VII collagen is a candidate gene for the Japanese family with DDEB, although the lod score was statistically not significant.

Sézary Syndrome with Acute Progressive Pulmonary Infiltration after Improvement of Skin Eruption

Sézary syndrome is a variant of mycosis fungoides and is included in the spectrum of cutaneous T cell lymphomas. This syndrome is characterized by the triad of erythroderma, lymphadenopathy and a population of 10% or more of atypical mononuclear cells in the peripheral blood. These abnormal circulating lymphocytes are apparently derived from the skin, since the bone marrow, lymph nodes and other organs are rarely sites of infiltration. A 43-year-old woman with a 12-month history of pruritic generalized skin eruption was examined in our hospital in February 1999. Physical examination disclosed generalized nodules and infiltrated erythema with scales. There was marked infiltration on her face (fig. 1), trunk and upper extremities. She had palpable lymph nodes in the axillae and groins but no hepatosplenomegaly. A skin biopsy from her right forearm revealed the presence of intraepidermal Pautrier microabscesses and of a dermal infiltrate consisting of atypical mononuclear cells. Immunohistochemical examination showed that these cells were CD8– and CD4+. The white blood cell count was 14,600/mm3 with 16% atypical cells. Anti-HTLV antibody and antiHIV antibody were negative. A chest roentgenogram showed no significant changes compared with one taken 5 years before (fig. 2). A CT scan of the whole body showed no extracutaneous involvement with the exclusion of positive lymph nodes. Fig. 1. Clinical manifestation of the face. a Before treatment with Á-interferon. b On admission due to tachypnea and cough. A diagnosis of Sézary syndrome was made, and treatment with PUVA and topical steroid was started. The treatment had a moderate effect at first, and the effectiveness of the treatment gradually decreased. We therefore added intramuscular injection of Á-interferon (1 million units per week), and the erythema and tumors regressed gradually. However, the patient was admitted to our hospital in October 1999 with a 1-week history of tachypnea, cough and weakness. Only slight erythema without infiltration was found over the whole body (fig. 1). On chest auscultation, diffuse bilateral crackles were heard. Arterial blood gases showed hypoxia and hypercapnemia. Her white blood cell count was 9,900 with 4% of Sézary cells, and a chest roentgenogram revealed a bilateral diffuse infiltrative shadow (fig. 2). Although we first considered the possibility of infectious pulmonary diseases such as bacterial and fungal infection, antibacterial