多发性家族性毛发上皮瘤1例及家系调查

先证者女,27岁。两侧鼻唇沟对称性分布丘疹15年。鼻翼部皮损组织病理示:真皮内有形状不规则的基底样瘤细胞呈栅栏状排列,散在分布角囊肿。诊断:多发性家族性毛发上皮瘤。家族中有5人罹患该病。     

Microcystic adnexal carcinoma

A 55-year-old man presented with an ulcer on the right sole present for 8 years. The ulcer measured 6.5 × 3 cm and affected the entire distal sole of the right foot; the margins were everted and an intermittent serosanguineous discharge was present. The general condition of the patient was good, with findings limited to the ulcerated lesion. There was no history of hypertension, diabetes mellitus, or venous stasis. A biopsy taken from the ulcer edge was interpreted as squamous cell carcinoma, Grade I. A transmetatarsal amputation was carried out and the specimen sent for histopathologic examination. Histologically, the epidermis showed ulcerated areas; adjacent areas showed hyperkeratosis and irregular acanthosis. Keratin cysts containing well-developed lamellar keratin were present in the upper dermis (Fig. 1). Nests and strands of squamous and basaloid cells, having scanty eosinophilic cytoplasm, alternated with the cysts. Areas of ductular differentiation were also noted. The epithelial strands were separated by concentric bands of moderately cellular fibrous tissue in the upper and mid-dermis. In the deeper areas of the tumor the epithelial nests became progressively smaller in size, diminishing to small clusters of two or three cells, and were surrounded by a sclerotic stroma. Cytologic atypia was minimal and no significant mitotic figures were identified. The neoplasm showed extensive infiltration of subcutaneous fat and striated muscle with frequent perineural involvement in the deeper parts. There was no extension to bone or perichondrium. Immunoperoxidase staining carried out for carcinoembryonic antigen (CEA) showed positivity in the lumina and lining cells of the ducts (Fig. 2).
Based upon the classical microscopic appearance, a diagnosis of microcystic adnexal carcinoma was made. The patient has been followed for a period of 3 years with no evidence of tumor recurrence.     

DESMOPLASTIC TRICHOEPITHELIOMA AND MULTIPLE EPIDERMAL CYSTS

A 22-year-old peanut vendor presented with an asympto-matic annular plaque of 2 years duration on his face. It began as a small, firm papule and gradually increased in size and extent. His occupation involved long hours of ex-posure to sunshine, but there was no associated burning sensation or irritation.
Dermatologic examination revealed an oval, annular plaque over the right temple, about 4 cm × 3 cm. The rim was studded with miliary white papules 1 to 2 mm in size, and the center was depressed (Fig. 1). It had an indurated feel and was freely mobile over the underlying structures. Clinically, a differential diagnosis of colloid milium, granu-loma annulare, or annular elastolytic granuloma was enter-tained. In addition, numerous milia were scattered over the cheeks. He also had multiple, well-defined, firm, white scro-tal swellings, 1 to 3 cm in size. Systemic examination did not reveal any abnormality.
Skin biopsies of the plaque and a scrotal cyst were per-formed, and the sections stained with hematoxylin and eosin. The annular plaque, showed mild hyperplasia of the epidermis, numerous keratin cysts, islands of basophilic cells in the dermis, and abundant fibrous tissue compress-ing the tumor cells into narrow strands (Fig. 2). Tumor stro-mal retraction was conspicuous by its absence. A diagnosis of desmoplastic trichoepithelioma was made.
The scrotal nodule revealed an epidermal cyst lined by stratified squamous epithelium and containing laminated keratin (Fig. 3). The patient was referred to the department of plastic surgery, where the plaque was excised in toto, and the defect repaired.     

Desmoplastic trichoepithelioma

A 20-year-old male presented with a 4 year history of a solitary nodule, 8 mm in diameter on the left temple. It was covered by normal skin, with a central depression and elevated borders. Histopathology showed numerous born cysts amidst nests and strands of basaloid cells surrounded by a dense fibrous stroma. The clinical and histopathological features were characteristic of desmoplastic trichoepithelioma.     

Complex adnexal tumor of the primary epithelial germ with distinct patterns of superficial epithelioma with sebaceous differentiation, immature trichoepithelioma, and apocrine adenocarcinoma.

A 60-year-old man came for treatment of a sharply outlined erythematous plaque on the gluteal area (45 x 20 mm) of 20 years' duration. Eccentrically located on the plaque was a nodule, 20 mm in diameter. Histological study of the plaque showed a superficial platelike tumor with basaloid bland cytology and sebaceous gland differentiation. Histologic study of the nodule found an undifferentiated adenocarcinoma whose ductlike glandular structures opened to the skin surface and infiltrated the whole depth of the dermis. Study of other areas of the lesion detected two more neoplasms. A nodule of squamous cell carcinoma was found within the superficial band of the benign sebaceous tumor. The fourth neoplastic pattern consisted of epithelial islands composed of basaloid cells within a fibroblastic stroma. There was prominent palisading of epithelial cell nuclei at the periphery of the islands, which usually were surrounded by a sheath of mesenchymal cells. In this complex adnexal tumor of the primary epithelial germ, sebaceous and follicular differentiation both simulate neoplastic patterns recently described as separate entities: superficial epithelioma with sebaceous differentiation and immature trichoepithelioma. The undifferentiated adenocarcinoma may represent differentiation toward the third component of the germ, that is, the apocrine gland.     

Desmoplastic trichoepithelioma with perineural involvement: a series of seven cases

Desmoplastic trichoepithelioma (DTE) is a benign follicular tumor occurring most commonly within facial skin of young and middle-aged women, morphologically characterized by a superficial dermal proliferation of basaloid cells growing in narrow strands embedded in a desmoplastic stroma associated with small keratinizing cysts. DTE must be distinguished from other benign epithelial proliferations such as syringoma, microcystic adnexal carcinoma and infiltrating basal cell carcinoma. Among morphological features useful in that distinction, perineural involvement is considered a feature indicative of malignancy. We present a series of seven DTEs with otherwise typical presentation and morphology, nevertheless showing epithelium present in the perineural spaces of adjacent small dermal nerves. Patients ranged in age from 14 to 66 years (mean 44 years). All seven tumors were restricted to dermis, showed strands of basaloid epithelium in desmoplastic stroma and contained CK20-positive cells. Additionally, five of five examined tumors displayed diffuse expression of p75 neurotrophin receptor. Five patients were followed up clinically (follow-up time range: 2 months-4 years). No tumor recurrence was observed in any of these patients. We postulate that perineural involvement is an unusual feature of DTE that should not be equated with malignancy or lead to unnecessary over-treatment.     

Trichoadenoma associated with an intradermal melanocytic nevus: a combined malformation

Melanocytic nevi have been associated with epidermal hyperplasia, adnexal hyperplasia with follicular and sebaceous differentiation, cysts, and tumors of epidermal or adnexal origin. We report a combined cutaneous hamartoma in a 29-year-old woman that comprised a trichoadenoma within an intradermal melanocytic nevus. Clinical diagnosis was a malignant transformation of a melanocytic nevus. Histopathologically, multiple keratinous cysts together with solid islands or masses of eosinophilic epithelial cells were closely intermingled with the nevus cells. Occasional nests of basaloid cells were present. Although to our knowledge this association has not been previously reported, it is worth considering that trichoadenoma and desmoplastic trichoepithelioma are the two ends of a spectrum of lesions. This combined hamartoma reported herein is important because growth of these lesions could be clinically misinterpreted as malignant transformation of a preexisting lesion. Histologic study will reveal the correct diagnosis in such cases.     

Microcystic adnexal carcinoma: a case report with immunohistochemical and electron microscopical examinations.

Microcystic adnexal carcinoma (MAC) is an unusual cutaneous neoplasm comprised of pilar and sweat duct structures. We report here a 66-year-old Japanese woman with MAC on her left nasolabial fold with more prominent calcified keratinous cysts than ductal differentiated structures which stained positively for carcinoembryonic antigen (CEA). The clinical appearance and statistical characteristics of MAC are reported to be different from those of other adnexal tumors. Desmoplastic trichoepithelioma (DTE) is the most difficult tumor to differentiate from MAC, unless positive reactivity for CEA in differentiated ductal structures in MAC can be demonstrated. We compare the differences between the clinical, histological, immunohistochemical, and electron microscopical features of DTE and MAC. It seems probable that these differences could be explained by biological differences in the characteristics of the cells from which these tumors originate, hair follicle cells and eccrine sweat cells, respectively.     

结缔组织增生性毛发上皮瘤一例

报告1例结缔组织增生性毛发上皮瘤并文献复习.患者女,76岁,左上唇淡红色浅碟状斑块10年余.皮肤科情况:左上唇见淡红色浅碟状斑块,直径约1 cm,斑块边缘轻度隆起,表面光滑,质硬.组织病理学检查示真皮胶原纤维明显增生,其间有散在的角质囊肿和基底样细胞条索.     

Lymphoepithelioma‐Like Carcinoma of the Skin: A Case Report

Lymphoepithelioma‐like carcinoma of the skin is a rare tumor with a microscopic resemblance to lymphoepitheliomatous carcinoma of the nasopharynx. We present a 93‐year‐old man with papules on the left auricle to the cheek that were gradually enlarged. By the time of a biopsy, it grew to a 5.0 × 3.0 × 2.8 cm dark red mass, and necrotic debris was attached to the surface. Histologically, a relatively well‐demarcated, dermal‐hypodermic multiple lobules were composed of irregular islands of atypical epithelial cells. The uniform tumor cells had moderate amounts of lightly eosinophilic cytoplasm and vesicular nuclei with one or two prominent nucleoli. A dense lymphocytic infiltrate was present within the neoplastic islands, obscuring the epithelial component. The neoplastic cells were unconnected to the overlying epidermis. Neither squamous nor glandular differentiation was present. Immunohistochemically, the neoplastic cells were positive for epithelial membrane antigen and cytokeratin, and negative for latent membrane protein 1. No Epstein‐Barr virus‐encoded RNA (EBER) was detected by in situ hybridization. The negativity for Epstein‐Barr virus may be a help in the differential diagnosis from metastatic undifferentiated nasopharyngeal carcinoma, which is uniformly positive for EBER.     

Leser-Trelat sign

A male patient aged 74, an inpatient at the chest diseases clinic at Ege University Hospital, Izmir, Turkey with squamous cell carcinoma in the right lung, was referred for consultation to the dermatology outpatient clinic as he presented with itchy papules recently increasing in number and a lesion on his nose with a duration of 2 years. In a lung X-ray taken to investigate hemoptisis, a mass 7 x 5 cm in size was observed on the upper part of the right lung, and as a result of lung biopsy, squamous cell carcinoma (T41MO-phase 3b) was diagnosed. The patient had been smoking 10 cigarettes a day for 60 years and had been taking digoxin for heart insufficiency for 7 years. Biochemical laboratory analyses of the case were observed to be within normal limits and no findings of metastasis were obtained in ultrasonographic and tomographic scanning. In the dermatological examination, an ulceration on the apex nasi, 2 x 1.5 cm in size, covered with crusts, was observed. On the thorax, lesions parallel to one another, linearly distributed, partly pigmented and raised from the skin, having a diameter of 0.5-2 cm, were observed, consistent with seborrheic keratoses (Fig. 1). In addition to these lesions, symmetrically localized, velvety, slightly raised plaques with light brown pigmentation were present on the axillary folds (Fig. 2). Histopathological investigation of the incisional biopsy taken from the apex nasi revealed tumor islands of different sizes. Histopathological changes were found to be in accordance with solid-type basal cell carcinoma. In the histopathological investigation of the incisional biopsy taken from the lesion consistent with seborrheic keratosis, epidermal thickening consisting of basaloid cells and keratin cysts was observed, and the result of the biopsy taken from the axilla was acanthosis nigricans, showing hyperkeratosis, focal acanthosis and papillomatosis in the epidermis.     

Granular cell tumor (Abrikossoff tumor) of the clitoris

A 60-year-old woman presented to the Department of Dermatology of the ABC Medical Center in Mexico City with a 2-month history of a progressive growth in the region of the clitoris that had been increasing rapidly. Examination revealed a firm growth measuring 3 cm in diameter; the overlying surface was smooth and free of ulceration. Vaginal speculum examination showed no mucosal irregularities or displacement. Rectal examination was normal. Inguinal lymph nodes were clinically negative. A wide excisional biopsy was performed with ample skin margins.
The specimen consisted of a mass measuring 3.5 × 1.2 × 0.5 cm that was pale tan, homogeneous, and firm. Prepared sections showed a cellular tumor composed of compact irregular strands and nodules of polyhedral cells containing centrally located, round to oval vesicular nuclei with no significant atypia of mitosis. These cells had granular eosinophilic cytoplasm with distinct cell borders (Fig. 1). The cytoplasmic granules were diastase-resistant periodic acid-Schiff (PAS) positive. The tumor cells were positive for S–100 protein and for neuron-specific enolase (NSE), and were negative for actin, desmin, and cytokeratin. The tumor showed compression and obliteration of the cavernous sinuses (Fig. 2) outlined by the S–100 immunostain and actin. (Figs 3 and 4).     

Immunohistochemical and ultrastructural observations of desmoplastic trichoepithelioma with a special reference to a morphological comparison with normal apocrine acrosyringeum

BACKGROUND: Desmoplastic trichoepithelioma is a benign neoplasm considered to have follicular differentiation. Its sweat gland- or sebaceous-lines of differentiation have been also reported. There have been, however, only a few reports regarding extensive immunohistochemical and ultrastructural investigations of this neoplasm. METHODS: Histopathological and immunohistochemical studies were performed on three cases of desmoplastic trichoepithelioma, comparing it with normal skin. One of these cases was ultrastructurally investigated. RESULTS: The cord-like basaloid nests were reacted with the anti-cytokeratin (CK)1/5/10/14, -CK5/8, -CK14 and -CK15 antibodies, but not with the anti-CK6 antibody. Similar findings were observed in the outer layers of the normal follicular outer root sheath. Basaloid cell nests in one case, which showed ductal structures in the nests, also expressed CK7, CK8/18 and CK19. These keratins were also detected in the normal sweat glands. In addition, CK8/18 and CK19 were expressed in the basal cells of the outer root sheath. Keratinous cysts had inner reactions with the anti-CK10/11 and -CK6 antibodies, and outer reactions with anti-CK5/8 and -CK14 antibodies. Ultrastructurally, the cells in the cord-like nests were basically immature and basaloid in appearance. A few cells contained Odland bodies, which were also observed in the normal apocrine acrosyringeum. The ductal structure was lined by the cells which bore numerous microvilli in the luminal surface. CONCLUSION: The cells in desmoplastic trichoepithelioma are suggested to be in close association with the basal cells in the outer root sheath, which can differentiate into various parts of the folliculosebaceous apocrine unit.     

Ultrastructure of Trichoepithelioma Papulosum Multiplex

The following features of trichoepithelioma papulosum multiplex (TPM) were revealed by electron microscopy: 1. Proliferation of basaloid cells similar to that in basal cell epithelioma (BCE). 2. Abortive hair shafts and hair papillae. 3. Keratinous cysts surrounded by flat keratinocytes, the cytoplasm of which had small-sized keratohyalin and Odland's bodies. 4. Glycogen deposition near the nuclei, vacuoles filled with amorphous materials and lipid droplets in the cytoplasm of tumor cells. 5. Extracellular compartments, in which fibrous materials, cell fragments, and mucinous substance were found. 6. Melanocytes containing melanosomes in stage 11, Langerhans cells involving Birbeck's granules, Merkel cells and other dendritic cells.     

毛发上皮瘤的皮肤影像学特征分析

【摘要】 目的 比较毛发上皮瘤的反射式共聚焦显微镜（RCM）和皮肤镜特征与组织病理学特征。方法 2017年1月至2018年12月于武汉市第一医院皮肤科门诊收集经组织病理学确诊的毛发上皮瘤患者23例,采集RCM、皮肤镜图像,对比其与组织病理学特征的一致性。结果 23例中,男5例,女18例,年龄（39.5 ± 22.1）岁。组织病理特征：肿瘤界限清楚,周围有丰富的纤维基质;肿瘤团块为多数基底样细胞集合或相互交织的基底样细胞索,周边细胞呈栅栏样排列;肿瘤细胞不同程度地向毛乳头分化;可见不等数量的角囊肿。RCM特征：23例患者中8例可见真表皮交界处芽蕾样下延的条索状细胞,有栅栏样排列趋势;18例可见真皮层散在分布结节状似有分叶的瘤团,与周围组织无收缩间隙,呈扩大的低回声结构;16例瘤团周围有中高折光的无定形基质包绕;16例患者可见特征性的疑似原始分化毛乳头结构;20例可见清晰的角囊肿。皮肤镜特征：20例可清晰观察到珍珠白色、均质状结构,10例线状毛细血管扩张。结论 毛发上皮瘤的RCM特征与组织病理具有较高一致性,可作为辅助诊断及鉴别诊断的有效方法。     

IN SITU POROCARCINOMA: A CASE WITH MALIGNANT EXPRESSION IN CLEAR TUMOR CELLS

A healthy 84-year-old man visited our clinic with elevated lesions on the dorsal aspect of the left hand (Fig. 1). The previous year, he had been in a traffic accident in which he had received an injury to the hand. This injury had since repeatedly shown erosion, but the present lesions had appeared a month before the first clinic visit. These lesions consisted of a tumor, about 2 × 3 cm in size, with neighboring satellite nodules. They were asymptomatic, slightly reddish and yellowish, and had scales. Histopathologic examination revealed the following features: (1) a tongue-like tumor mass connected to the epidermis. The tumor foci were localized in the epidermis, from which they were sharply demarcated. Cell infiltration and senile elastosis were found in the stroma. (2) The tumor consisted of deeper layers of basaloid cells and of superficial layers of large cells with clear cytoplasm (Fig. 2A). The clear tumor cells showed prominent cellular and nuclear atypia: they were disordered, of unequal size, had irregular chromatin straining, and were marked by mitotic figures and cell clumping (Fig. 2B). The basaloid cells showed nuclei that stained intensely with hematoxylin and displayed less prominent atypia than the clear cells. (3) On PAS staining of clear cells, PAS-positive granules were digested with diastase. (4) Several duct-like structures were seen in the tumor nests. The tumor cells seemed to be proceeding from outer cells around the lumen of these structures. (5) The basement membrane between the tumor and the dermis was intact. No invasion by tumor into the dermis was seen. These findings were all consistent with porocarcinoma in situ. Immunohistochemically, epithelial membrane antigen (EMA) was strongly positive in the cell membrane of the clear cells. However, staining of basaloid cells was only weakly positive or negative (Fig. 3). These results and the previously reported results of EMA staining⁴ suggest that the appearance of the clear tumor cells in porocarcinoma indicate malignancy.     

Cytokeratin expression in trichoblastic fibroma (small nodular type trichoblastoma), trichoepithelioma and basal cell carcinoma

Classical trichoblastic fibroma or small nodular type trichoblastoma (Ackerman) is a rare tumour. This tumour, trichoepithelioma and basal cell carcinoma (BCC) have some overlapping histopathological features. There are only a few reports on immunohistochemical studies in large series of these three neoplasms. We investigated immunostaining patterns of 10 different anticytokeratin (CK) antibodies and several other markers in these neoplasms, comparing them with the patterns in normal adult and fetal skin. In trichoblastic fibroma (three cases), CK1/5/10/14, CK7, CK8/18, CK10/11, CK14, CK17 and CK19 were expressed in the basaloid nests, and CK6 and involucrin were detected in the inner layers of keratinous cysts. Trichoepithelioma (seven cases) expressed CK1/5/10/14, CK8/18, CK14, CK17 and CK19 in the basaloid nests, and CK6, CK10, CK10/11 and involucrin were positive in the keratinous cysts. However, no CK7 expression was observed. Solid and keratotic types of BCC (29 cases) expressed CK1/5/10/14, CK7, CK8/18, CK14, CK17 and CK19 in the basaloid nests. The keratinous cysts in BCC were stained with anti-CK6, CK10, CK10/11 and involucrin antibodies. Coupled with the expression of CK8/18, CK17 and CK19 in the outer root sheath of the adult hair follicle, these three neoplasms shared a keratin phenotype characteristic of the outer root sheath. Judging from our immunohistochemical results, trichoblastic fibroma and BCC cannot be differentiated by their patterns of CK expression. The expression of CK7, which is noted in fetal hair follicles, trichoblastic fibroma and BCC, suggests the presence of subpopulations that retain fetal phenotypic characteristics in these two neoplasms. Although the current concept regards trichoepithelioma and trichoblastic fibroma as a single tumour group, the lack of CK7 expression in trichoepithelioma supports the notion that the two are different.     

Basaloid follicular hamartoma with eruptive milia and hypohidrosis: is there a pathogenic relationship ?

We report a sporadic case of eruptive milia with histopathological features of basaloid follicular hamartoma which developed in an 8 year-old Japanese girl. Multiple milia and comedo-like eruptions were present at birth and gradually increased in number and spread over the extremities. Histopathologically, keratotic cysts with trichilemmal keratinization and features of basaloid follicular hamartoma were observed without any histological findings of basal cell epithelioma or trichoepithelioma. Reduced sweating was observed after iontophoretically applied acetylcholine on the forearm. Nevus of Ota and thyroid goiter were complications.     

A combined case of desmoplastic trichoepithelioma and nevus cell nevus

A 41-year-old woman with desmoplastic trichoepithelioma associated with pigmented nevus presented. Pigmented nevus had been present on her face at birth. She had received cryotherapy and dermabrasion at a small part of the pigmented nevus. As a result of the therapy, the discoloration disappeared. The lesion lately increased and became hard. Histologically, the lesion was composed of two distinctive but intimately mixed cellular components; nevus cells and basaloid cells. In the pigmented lesion, basaloid cells were not present. To our knowledge, this is the first reported case of desmoplastic trichoepithelioma associated with nevocellular nevus in Japan.