The cutaneous pathology of Cowden''s disease: new findings

Histological, histochemical and immunohistochemical findings were studied in 40 cutaneous biopsies from 7 patients with Cowden's disease. Most facial biopsies showed a spectrum of trichilemmomas and related follicular malformations, including cylindrical trichilemmomas, lobulate trichilemmomas (14 lesions), and a keratinizing type sharing features with inverted follicular keratosis. One facial growth showed trichilemmomal changes without apparent follicular origin. Studies for common papilloma virus structural antigens were negative, apart from a typical common wart in one patient. Immunohistochemical studies in 6 facial trichilemmomas and acral keratoses, using a panel of anti-keratin antibodies, disclosed only abnormal differentiation with lack of large keratins in the lobulate trichilemmomas. Nine biopsies revealed a distinctive type of fibroma characterized by an organized pattern of interwoven fascicles of collagen bundles with a laminated or tortuous appearance, embedded in abundant mucin. A number of fibromas showed striking hyalinization; these may represent a second microscopic hallmark of Cowden's disease in addition to facial trichilemmomas.     

The cutaneous pathology of facial lesions in Cowden''s disease

A study of 11 facial lesions from 7 patients with Cowden's disease indicated that most belong to a spectrum of related follicular malformations. The most distinctive lesions included multiple facial trichilemmomas, which were frequently cylindrical, resembling a blown-up hair follicle, but could be lobular. Four of the 5 trichilemmomal lesions were from the centrofacial area. Three periauricular lesions showed the pattern of tumor of follicular infundibulum without trichilemmonal features. Two lesions were epidermal without a follicular component and resembled digitate warts. No evidence of virus infection was found using an antiserum to papilloma virus.     

Acral keratotic graft versus host disease simulating warts

A 55-year-old man experienced persistent oral graft versus host disease after receiving an HLA-matched allogeneic stem cell peripheral blood transplant for chronic myeloid leukaemia. Twelve months post-transplant, multiple keratotic lesions resembling warts developed on his fingers, on his palms and on the soles of his feet. Skin biopsy showed a lichenoid reaction under a hyperplastic and hyperkeratotic epidermis lacking signs of papillomavirus infection. The lesions partially regressed when the patient's oral prednisone was increased. This instance of acral keratotic lesions may represent an unusual expression of chronic graft versus host disease; however, the the hydroxychloroquine which had been used for 8 months to control the patient's oral graft versus host disease cannot be excluded as a cofactor.     

Multiple Sclerotic Fibromas in an HIV‐Positive Patient Without Evidence of Cowden''s Disease

Dermatomyositis is an inflammatory condition of the skin and muscles, and an underlying malignancy is noted in 10% or more of cases. Clinical features of dermatomyositis include increasing general fatigue and proximal (thighs and shoulders) muscle weakness accompanied by erythematous lesions of the skin. There have been several distinct types of dermatomyositis described. Here we describe a case of vesiculo‐bullous dermatomyositis, which is a rare variant of dermatomyositis. A 49‐year‐old woman was admitted to our hospital with a painful erythematous vesicular eruption of the face, trunk and extremities. In addition, edema of the face and fever were observed. Clinically, dermatomyositis was considered because of typical skin rashes (Gottron's papules, periorbital heliotrope rash and poikiloderma) and serum creatine phosphokinase level of 1,031 IU/L. A skin biopsy was performed. Microscopically, subepidermal vesiculation with marked edema was present. Lymphoplasmacytic infiltration was also observed in the upper dermis. So far only a few case reports of vesiculo‐bullous dermatomyositis have been reported in the literature. It should be kept in mind that dermatomyositis may present subepidermal vesiculation in order to avoid a misdiagnosis and unnecessary delayed treatment. Furthermore, an internal malignancy should be considered in such a variant of dermatomyositis.     

Darier's disease: an immunologic study.

Darier's disease is frequently complicated by bacterial skin infections and occasionally by Kaposi's varicelliform eruption. Postulating that defective host immunologic competence might explain these infections, humoral and cell-mediated immunity (CMI) were evaluated in four patients. Humoral immunity was normal as demonstrated by quantitative immunoglobulins, isohemagglutinins, direct skin immunofluorescence, and B-cell counts. The CMI was evaluated by standard delayed type hypersensitivity skin tests, T-cell counts, lymphocyte transformation assays, macrophage inhibition factor (MIF) assays, and skin windows. Blunted lymphocyte blastogenesis, MIF, and skin window response indicated depressed CMI. Polymorphonuclear leukocyte chemotaxis and phagocytosis were normal.     

Generalized Hailey–Hailey disease with flexural keratotic papules: An interesting presentation and remarkable response with minocycline

Hailey–Hailey disease is a hereditary blistering disorder characterized by episodic vesicles, pustules, erosions, and maceration mainly in intertriginous areas with generalized eruptions encountered rarely. We present a case of generalized HHD with keratotic papules over flexural areas along with its dermoscopic features; treated successfully with minocycline alone.     

云母状角化性假上皮瘤样龟头炎五例分析

目的 探讨云母状角化性假上皮瘤样龟头炎（PKMB）的临床及病理学特征。 方法 分析2008年1月至2013年12月收集的5例PKMB患者的临床、病理特点以及治疗经过。 结果 5例患者发病年龄56 ~ 67岁,均未行包皮切除术。龟头及包皮内板见硬化性角化性斑块,表面覆灰黄色云母状痂皮,结痂均难以剥脱、质地硬,无触痛。病理检查显示显著的角化过度伴角化不全;表皮呈假上皮瘤样增生,棘层肥厚,细胞排列极性正常;真皮上层毛细血管扩张,轻至中度淋巴细胞浸润。免疫组化显示,2例患者人乳头状瘤病毒（HPV）表皮细胞核阳性。2例患者口服小剂量泼尼松,疗效欠佳;2例口服异维A酸,曾有较好疗效,但减量后复发;改外用糖皮质激素软膏、他克莫司软膏或予CO2激光及光动力治疗,厚痂仍出现。 结论 PKMB发病过程呈慢性、顽固性,诊断需结合病理。本病治疗困难,维A酸治疗有一定效果,但停药容易复发,需维持治疗。     

Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review

Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency. It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum. Electronmicroscopic examination reveals characteristic electron-lucent cytoplasmic vacuolization present in several cell types of the skin and other tissues. We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy. The salient clinicopathological features of this disease are briefly reviewed.     

Sarcoidosis in a child, presenting as an erythroderma with keratotic spines and palmar pits

A case of sarcoidosis with generalized erythroderma, exfoliation and micropapule formation in a 6-year-old boy is presented. Follicular spiny keratoses, resembling those seen in pityriasis rubra pilaris, and palmo-plantar pitting were among the other extraordinary features in this case. The epidermis overlying the widespread sarcoid granulomata showed parakeratosis, lymphocytic infiltration and degeneration of the basal layer.     

Darier''s disease: an immunohistochemical study using antibodies to proteases

The expression of plasminogen activators, plasminogen and fibrinogen was investigated in 10 specimens of normal skin and in the involved skin of seven males with Darier's disease, using immunohistochemical techniques. Changes in the localization of proteases were found in the involved skin of Darier's disease, plasminogen being expressed by suprabasal cells and fibrinogen being detected in the keratotic plug.     

Overall progeroid aspect of the Louis-Bar syndrome: pigmentary and keratotic phenomena]

A patient with ataxia-teleangiectasia is presented who developed numerous actinic keratoses and pigmented spots predominating the clinical picture with only few teleangiectasis. Premature ageing of the skin is perhaps the reason for the marginal dermatologic symptoms of this disease.     

The permeability of epidermis lacking normal membrane-coating granules: an ultrastructural tracer study of Kyrle-Flegel disease.

Skin lesions from patients with Flegel's disease have been reported to be without membrane-coating granules (Odland bodies). Biopsies of the hyperkeratinized papules of Kyrle-Flegel disease were incubated in vitro with the intercellular tracer, horseradish peroxidase, and the extent of penetration of this substance examined in the light and electron microscopes. The peroxidase was present throughout the corium and extended through the intercellular spaces of the epidermis to a level close to the junction of the granular and keratinized layers; it did not enter the bulk of the thickened stratum corneum of the lesion. Ultrastructural examination revealed the presence of small vesicles in the granular layer, similar in size and shape to membrane-coating granules but lacking a lamellate internal structure; these were occasionally seen fusing with the plasma membrane of the cells. It is suggested that the intercellular permeability barrier to horseradish peroxidase demonstrated in the Kyrle-Flegel lesion may arise from material contributed by these granules to the intercellular space.     

Mammary Paget's disease: an ultrastructural study (author's transl)

A case of mammary Paget's disease has been studied under electron microscopy. It seems that Paget's cells are coming from the basal layer which is not affected by the malignant proliferation. Paget's cells show some characters of keratinocytes such as rudimentary desmosomes and tonofilaments. But the tumoral tissue is very loose. The Paget's cells are not keratinised; they present numerous vesicles as malignant cells of apocrin mammary carcinoma. There are numerous histogenetic theories of Paget's disease. One of them sounds very interesting: it consists in looking for associations between microscopic mammary Paget's disease and mammary apocrin carcinoma.     

The onychomatricoma: an electron microscopic study

The electron microscopic findings in the onychomatricoma are described. In the proximal zone of the onychomatricoma, basal cells have various aspects, some being lacunar while others have only a limited cytoplasmic rim containing mitochondria and tonofilaments. In the parakeratotic cell columns the cells elongate and homogenized tonofilaments appear. Around the lacunae the cells are poorly differentiated and their cytoplasm is granular. It can be concluded that in an onychomatricoma the basal cells have a decreased amount of tonofilaments and desmosomes and that their evolution is not uniform. The tumour can be considered as being the result of a disturbed differentiation of nail matrix cells.