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Notes: α-N-acetylgalactosaminidase (α-NAGA) deficiency is a rare hereditary lysosomal storage disease, and only three α-NAGA-deficient patients with angiokeratoma corporis diffusum (Kanzaki) have been described. We report a further case in a 47-year-old Japanese woman, the product of a consanguineous marriage. The remarkable findings in this patient were her normal intelligence, Ménière's syndrome, disturbance of peripheral sensory nerves, hearing loss and cardiac hypertrophy. α-NAGA enzyme activity in her plasma was 0·77% of the normal value. Other enzyme activities, such as α-galactosidase, β-galactosidase, α-l-fucosidase, β-mannosidase and aspartylglucosaminidase, were within normal limits. A large quantity of amino acid O-glycans was detected in her urine. Gene analysis revealed a novel point mutation (G→A transition) at nucleotide 11018 (986 in the cDNA) resulting in an Arg-329-Gln substitution. Kanzaki disease has the same enzyme defect as Schindler disease, but the manifestations are quite different.

Notes: A mother and daughter having ichthyosis follicularis with alopecia and photophobia (IFAP) are reported, with histopathological and electron microscopic findings. We have followed the clinical course of the mother for 26 years since she was 5 years old, and the daughter since birth. They have had almost all the classical and some of the minor symptoms of IFAP, including severe photophobia, extensive non-inflammatory follicular hyperkeratosis, generalized non-scarring alopecia, hyperkeratosis of the extensor aspect of the four extremities, nail deformity and recurrent cheilitis. In addition, their facial appearance greatly resembles that of previously reported patients. A consistent feature in the mother was florid keratotic inflammatory eruptions on the genital region during each of her pregnancies, which rapidly improved after the delivery. Skin biopsy of the genital lesion showed marked acanthosis with dyskeratosis and spongiotic changes. The electron microscopic examination of diseased skin showed damaged desmosomes with spongiosis. No obvious changes were found in normal appearing skin.

Notes: Summary The expression of SPRR (small proline-rich protein) was investigated in normal human skin and in diseased skin from patients with psoriasis, squamous cell carcinoma, basal cell epithelioma. Naevus pigmentosus, ichthyosis vulgaris and several inflammatory skin diseases, by immunohistochemical staining. A polyclonal antibody was raised against a synthetic peptide for a C-terminal common region for SPRR l and SPRR 3. In immunoblot analysis, a positive band of 18kDa was detected, which showed the presence of SPRR l in human epidermal keratinocytes. In normal epidermis, positive staining for SPRK was observed in keratinocytes in the granular layer and the uppermost or two spinous cell layers, with no staining of the other spinous or basal layers. The staining was obvious at the cell periphery, weak at the cytoplasm, and absent in the nucleus. Staining was observed in several outer layers of the follicular infundibulum to the isthmus. No staining was detected in the inner root sheath of the hair follicles, hair matrix, sebaceous gland, eccrine gland, eccrine duct, melanocytes. Langerhans cells or fibroblasts. The arrectores pilorum, striated muscles, muscle layers of vessels, and myoepithelia of eccrine gland, were weakly stained. In psoriatic skin, stained keratinocytes were distributed in the spinous cell layers except for the basal layer, in ichthyosis vulgaris. SPRR was barely expressed in the uppermost living cell layers of the epidermis in epidermolytic hyperkeratosis. degenerated squamous cells widely expressed SPRR. In Darier's disease, dyskeratolic cells were clearly stained. In squamous cell carcinoma, staining was observed in keratotic cells around horny pearls. In basal cell epithelioma, naevus pigmentosus, and malignant melanoma, the tumour cells or naevus cells were not stained. The distribution of SPRR was similar to that of involucrin in normal and several diseased skin, except for ichthyosis vulgaris. We conclude that SPRR is expressed in close association with epidermal differentiation in normal skin and skin diseases. The alteration of the expression of the proteins correlated to terminal differentiation, and differs from disease to disease.

Notes: Abstract In atopic dermatitis (AD) patients, IgE molecules are demonstrated on the surface of Langerhans cells (LC). FcεRI molecules, which are present on the surface of LC in AD patients as well as normal individuals, are responsible for this binding. In this study, we have investigated phenotypic and functional characteristics of FcεRI on epidermal and dermal cell populations. Epidermal and dermal cell suspensions were prepared enzymatically with dispase followed by either trypsin or collagenase treatment, respectively. Peripheral blood basophils were negatively selected by excluding other leukocytes with surface marker staining. Consistent with previous reports, both peripheral blood basophils and epidermal LC were positively stained with anti FcεRI monoclonal antibody. In addition, an FcεRI positive population was demon-strated among dermal HLA-DR positive cells. These cells express significant amounts of HLA-DR molecules (DRHi) and co-express CD la molecules, which identifies them as LC-like dendritie APC of the dermis. No other FcεRI positive population was found in the other dermal DRMid or DR populations, except for a minor DRlo population, presumably mast cells. To analyze whether these FcεRI molecules are signal transducing for LC, intracellular calcium mobilization after crosslinking of FcεRI was measured with How cytometry. Following crosslinking, peripheral blood basophils clearly increased intracellular calcium. On the other hand, neither normal epidermal LC nor dermal DRHiCD Ia+ cells changed their intracellular calcium level after FcεRI crosslinking. These data indicate that normal epidermal and dermal LC, but not basophils, are resistant to calcium flux following FcεRI engagement.

Notes: A 55-year-old woman presented with an asymptomatic red plaque on the left upper back for 6 or 7 years. The lesion was depressed in response to finger pressure. The clinical diagnosis was anetoderma. Histopathologically, the characteristic cells of cellular dermatofibroma proliferated within the thinned dermis, which showed atrophy of about 60 or 70%. The proliferated cells were positive for factor XIIIa and negative for CD34. The involved dermis showed the loss of elastic fibers on elastica van Gieson stain. Electron microscopically, the proliferating cells phagocytized the elastic fibers. We report a typical case of atrophic dermatofibroma and show the possibility that the cause of this disease might be elastophagocytosis between the collagen fibers by the dermatofibroma cells.

Notes: Background: Intravascular lymphoma is a rare disease characterized by the proliferation of neoplastic monuclear cells within the lumens of small blood vessels. The neoplastic cells are usually of B-cell origin, and rarely of T-cell or histiocytic origin. Although this clinicopathological entity of lymphoma has not been listed in general pathological classifications such as REAL classification or the Working Formulation, it is recently in the WHO classification scheme, which is essentially an updated REAL scheme, and the EORTC classification scheme.Methods: In this report, a 62-year-old woman with intravascular large B-cell lymphoma was observed by clinical, histopathological, immunohistochemical and molecular methods.Results: A 62-year-old woman presented with large erythematous macules on the bilateral thighs and lower legs. The lesions were accompanied with hard, tender, intradermal or subcutaneous nodules mimicking erythema nodosum. Histopathological examination in the first biopsy revealed non-specific panniculitis compatible with erythema nodosum. The second biopsy revealed emboli of atypical lymphocytes within many of the dilated and proliferated vessels in the deep dermis and subcutaneous tissue. These cells were positive for L-26 and kappa light chain, and negative for lambda light chain, factor VIII-related antigen, CD30, CD34, CD68 and UCHL-1. These findings confirmed the diagnosis of intravasular large B-cell lymphoma. A laboratory examination showed a high level of LDH and abnormal cells in the bone marrow. An MRI of the brain and computed tomographic (CT) scans of the chest and abdomen revealed no evidence of malignancy. Before the treatment, the size of the nodules decreased spontaneously by about 50% in one month and significantly in two months. Although combination chemotherapy, which consisted of CHOP, brought her partial remission, she experienced neurological symptoms 6 months after the initial treatment and died of brain metastasis 9 months after the treatment.Conclusions: This is a unique case for two following reasons: 1) the first biopsy revealed non-specific findings compatible with erythema nodosum; and 2) before the treatment, the nodules regressed spontaneously. Dermatologists should take multiple skin biopsies for EN lesions with the non-specific histopathological findings not to refute the existence of this disease.