Tamotsu Kanzaki

NOVEL LYSOSOMAL GLYCOAMINOACID STORAGE DISEASE WITH ANGIOKERATOMA CORPORIS DIFFUSUM

A 46-year-old Japanese woman had disseminated angiokeratoma, confirmed by electron microscopy which showed numerous cytoplasmic vacuoles in cells of the kidney and skin. Enzyme activities against synthetic and natural substrates in leucocytes and fibroblasts were normal. Her urine contained a large amount of sialylglycoaminoacids, with predominant excretion of an O-glycoside-linked glycoaminoacid.

Late Phase Allergic Reaction to a CT Contrast Medium (Iotrolan)

A 46‐year‐old male developed wide‐spread erythema and edema after intravenous injection of a CT contrast medium (iotrolan). The skin eruption appeared at 6 h, reached a maximum at 9 to 12 h, and faded within 36 h after injection. A challenge with an intradermal injection of the agent provoked the same reaction where the eruption had originally appeared, but had no effect on previously unaffected regions. Histopathologic examination revealed a perivascular infiltration of small round cells, and a few neutrophils, and eosinophils in the dermis and focal spongiosis in the epidermis. This is the first report of a late phase allergic skin reaction induced by iotrolan.

Eruptive Pruritic Papular Porokeratosis

Three cases of an unusual variant of porokeratosis (Mibelli) were described. Patients with disseminated superficial porokeratosis for some years suddenly developed intensively pruritic erythematous papules. Skin biopsies revealed that these papules contained cornoid lamellae on their tops. Pruritic papules subsided in several months, leaving slightly hyperkeratotic brown annular lesions which were shown to contain typical cornoid lamellae histopathologically. This type of porokeratosis has not been reported in the literature.

A method for the rapid detection of urinary glycopeptides in α-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases

A new method is described for the detection of abnormal urinary oligosaccharide and glycopeptide excretion by thin layer chromatography and differential visualization of oligosaccharides and glycopeptides. This method permits rapid screening and identification of disorders characterized by oligosacchariduria and glycopeptiduria including alpha-N-acetylgalactosaminidase deficiency, angiokeratoma corporis diffusum with glycopeptiduria, aspartylglucosaminuria, galactosialidosis, fucosidosis, GM1 gangliosidosis and sialidoses 1 and 2. Of note, the characterization of the glycopeptide excretion profiles in patients with alpha-N-acetylgalactosaminidase deficiency and angiokeratoma corporis diffusum with glycopeptiduria revealed essentially identical patterns, indicating the metabolic relatedness of these two phenotypically distinct conditions. Use of this improved thin layer chromatographic method should enhance routine screening of patients for lysosomal storage diseases as well as permit the identification of new disorders resulting from defective oligosaccharide and/or glycoprotein metabolism.

The Koebner Phenomenon in Eruptive Xanthoma

A 49‐year‐old woman with Type V hyperlipidemia had yellow papules smaller than 3 mm in diameter with red haloes on her elbows, shoulder, buttocks, and hands. Two linear lesions composed of papules arising at the sites of skin previously injured by a cat scratch were observed. Histopathological examination of these papules revealed the presence of many foam cells in the dermis which stained positively with oil red O stain. A survey of the literature found only 5 cases of the Koebner phenomenon in xanthoma.

Acneiform Eruption Induced by Lithium Carbonate

A 26‐year‐old female developed a severe acneiform eruption on her face, chest and back soon after she started taking lithium carbonate for psychosis. Histopathological examination revealed it to be folliculitis, rather than true acne. The eruption continued for six months but was resolved three months after discontinuing the drug. It has not reappeard in the following 3 years.

Milialike Idiopathic Calcinosis Cutis and Syringoma in Down's Syndrome

A 6‐year‐old girl with Downs syndrome presented milialike whitish small papules on her hands and feet and periorbital syringoma. Histopathological examination of the hand lesion revealed small localized calcium deposits and syringoma in the adjacent upper dermis. This is a very rare but typical case of calcinosis cutis with syringoma in a patient with Downs syndrome.

Eruptive Lichen Planus

We herein report a case of a rare variety of the acute eruptive form of lichen planus. The patient was a 51‐year‐old male who developed an intensely pruritic eruption on the lower legs which spread rapidly to all four extremities and trunk within a few months. The papulosquamous lesions were more than ten thousand in number. Topical steroid, cyclosporine, and systemic griseofulvin treatments were ineffective. However, there was a dramatic response to oral etretinate.

Muir‐Torre Syndrome

Muir‐Torre syndrome is characterized by multiple sebaceous tumors, various internal malignancies and an autosomal dominant inheritance. We herein report a typical case. The patient was a 69‐year‐old man with sebaceous adenomas, a keratoacanthoma, and actinic keratosis in addition to carcinomas of the prostate, colon, duodenum, and larynx. His family members also suffered from multiple cancers.

Electron Microscopic X‐ray Microanalysis of Metals Deposited in Oral Mucosa

A 35‐year‐old woman exhibited bluish‐brown discoloration of her buccal mucosa suggesting malignant melanoma. Histopathological examination revealed that the pigment was not melanin but caused by metal deposits. Electron microscopically, metallic particles were located on the lamina densa of basal laminae at mucosal epithelium, nerve fibers, and bloodvessels and on the microfilaments of elastic fibers as well as in macrophages and fibroblasts. Electron microscopic point X‐ray microanalysis revealed that these metallic particles were composed of Ag, Se, Fe, Co, Cu, and S. Analysis suggests that these metals were derived from dental amalgam and that the discoloration was caused by amalgam tattoo.