Dowling-Degos disease: classic clinical and histopathological presentation

Dowling-Degos disease (DDD) is a rare genetic disease of the skin (reticulate pigmented anomaly), clinically characterized by flexural brown pigmented reticulate macules, comedo-like papules on the back, neck and pitted perioral or facial scars. We present the case of a 51 year-old man with macrocomedo-like lesions, pitted scars, cysts, hyperpigmented macules in his back, chest, axillae, neck, groin and face. The patient reported having two children, three brothers and a father with a similar condition. The histopathology of the skin biopsies was very characteristic of Dowling-Degos disease, showing dilated follicular, fingerlike projections called rete ridges (dermal pegs), with thinning of the suprapapillary plates, resulting in an "antler-like" pattern and increased pigmentation of the basal layer.     

Cutaneous lymphoma manifesting as pigmented, purpuric capillaries]

INTRODUCTION: A few cases of patients with both purpuric pigmented dermatitis and cutaneous lymphoma have been reported. The aim of this study was to evaluate the prognosis of purpuric pigmented dermatitis. MATERIAL AND METHODS: This is a monocentric retrospective study at the dermatology department of the university hospital of Strasbourg. The records of all patients hospitalized for purpuric pigmented dermatitis between 1967 and 1997 have been reviewed. RESULTS: Eight women and 9 men aged between 17 and 84 years were hospitalized for purpuric pigmented dermatitis during the reference period. Except for one patient, all had had a cutaneous biopsy showing the typical features of purpuric pigmented dermatitis. On the basis of clinical signs and course, one patient was thought to have contact dermatitis and three patients were thought to have a purpuric pigmented dermatitis-like drug eruption (meprobannate, pefloxacine and lorazepam or aspirin). The mean follow-up was one year. During follow-up, two patients developed cutaneous T-cell lymphoma after two and four years respectively and one patient developed Hodgkin's disease with skin and lymph node involvement. Another patient who suffered from purpuric pigmented dermatitis for four years had a monoclonal T cell population within the dermal infiltrate. Two patients died of their lymphoma. DISCUSSION: This study shows that purpuric pigmented dermatitis can be associated to or evolve into lymphoproliferative disease. This course should be suspected when purpuric pigmented dermatitis is extensive, long-lasting (> 1 year), has a reticular arrangement and negative patch-testing. In this situation, a long-term follow-up and treatments indicated in the early patch stage of mycosis fungoides (PUVA therapy, chlormethine) seem adequate.     

Bowen's disease clinically simulating an onychomatricoma

Onychomatricoma (OM) is an uncommon benign tumor clinically characterized by a thickened yellowish nail with transverse over curvature. A pigmented variant has recently been described. Histologically, the diagnosis requires 3 prerequisites: (1) a fibroepithelial tumor consisting of 2 portions: the proximal zone (under the proximal nailfold, characterized by deep epithelial invaginations and a fibrillary and fibrocytic stroma), whereas the distal zone (corresponding to the lunula) presents with multiple digitations along its connective tissue axes; (2) a matricial tumor typified by a thick keratogenous zone; and (3) a thick nail plate, perforated by cavities. We describe a case that appears clinically identical to a pigmented OM, but with histologic malignant patterns. Because histologic features were consistent with Bowen's disease, we ruled out a malignant OM. We report a new variant of Bowen's disease presenting as OM, and this observation underlines the necessity for a histologic assessment of all forms of OM, especially those associated with a pigmented band (a sign sometimes observed in Bowen's disease).     

HPV-associated intraepithelial neoplasia of external genitalia

Intraepithelial neoplasia of the external genitalia with the histologic features, but not the clinical characteristics, of Bowen's disease, has been described under several names: bowenoid papulosis (BP) of the penis or genitalia,^1,2 pigmented penile papules with carcinoma in situ changes,³ multicentric pigmented Bowen's disease (MPBD),^4,5 multicentric Bowen's disease of the genitalia,⁶ reversible vulvar atypia,⁷ bowenoid atypia of the vulva,⁸ bowenoid dysplasia of the vulva,⁹ early vulvar carcinoma,¹⁰ vulvar neoplasia in the young,¹¹ vulvar intraepithelial neoplasia (VIN),¹² penile intraepithelial neoplasia,¹³ carcinoma in situ of the vulva,¹⁴ multicentric vulvar carcinoma in situ,¹⁵ and intraepithelial carcinoma of the vulva.¹⁶

The term bowenoid papulosis of the penis is adequate, since it stresses the multifocal and papular type of the lesions, their localization, and histologic pattern. The term multicentric pigmented Bowen's disease is suitable for the confluent, usually heavily pigmented, and somewhat proliferative lesions in women. The relationship between BP or MPBD and Bowen's disease is currently substantiated by the detection of the same type of human papillomavirus (HPV) in lesions recognized as BP or MPBD, and in typical cases of genital Bowen's disease ¹⁷ (Obalek S, et al. unpublished observations).     

A Case of Pigmented Mammary Paget's Disease

Pigmented mammary Paget''s disease is a uncommon clinicopathologic variant of mammary Paget''s disease, and this mimics malignant melanoma both clinically and histopathologically. Herein, we report on a rare case of pigmented mammary Paget''s disease. An 81-year-old woman presented with 2.5×1 cm sized, red and brown, eczematous plaque on her right areola, and she''d had this lesion for 3 years. Histopathology showed large, atypical cells with large nuclei and abundant pale cytoplasm throughout the epidermis. Dispersed melanocytes were noted in the epidermis and some of the Paget''s cells contained melanin within their cytoplasm. Immunohistochemical studies demonstrated that the intraepidermal pagetoid cells were positive for cytokeratin 7; in contrast, they were negative for S-100, Periodic-acid Schiff (PAS), Alcian blue at PH 2.5, HMB-45 and carninoembryonic antigen (CEA). We recommend that pigmented mammary Paget''s disease should be included in the differential diagnosis of pigmented lesions on the nipple.     

Prevalence and distribution of solitary oral pigmented lesions: a prospective study

Solitary pigmented lesions are uncommon in the oral mucosa. A review of the literature reveals no information regarding the relative frequency of these lesions. The purpose of this study is to determine the relative prevalence of solitary oral pigmented lesions in a selected population of patients. This study includes 265 consecutive patients who accessed the dermatology out-patients' surgery of the Department of Dermatology, University of Florence between March 2006 and July 2007. The sample we studied presented 5.7% of oral pigmented lesions; the most frequent being vascular lesions. Despite the various methods used, the differential diagnosis for these particular lesions is not always easy. There is some difficulty in distinguishing between a benign pigmented lesion and a growing melanoma which, though rare (1% of all oral malignancies), is a serious and often fatal disease. Therefore, biopsy with histological exam represents the diagnostic gold standard.     

Pigmented Paget's disease of the breast

INTRODUCTION: Pigmented Paget's disease of the breast is an uncommon disease. Histology shows intraepidermal pagetoid cells positive for cytokeratin7. We report a difficult case with an atypical clinic presentation as a pigmented lesion and unusual immunohistochemical results such as absence of expression of cytokeratin7 (CK7). OBSERVATION: A 68-year-old woman presented a heterogeneous pigmented lesion on the left nipple extending to the areola, over a period of six years. Histologic study of biopsy showed intraepidermal proliferation of atypical cells positive for melanocytic markers but negative for CK7. The clinicopathological features were consistent with malignant lentigo. Nevertheless, histological study of the whole lesion after complete surgical excision was in favour of mammary Paget's disease, while CK7 remained negative. DISCUSSION: Pigmented Paget's disease of the breast is infrequent, with only a few cases reported in the literature and is suggestive of malignant melanoma or pigmented metastasis of mammary adenocarcinoma. Immunohistochemistry is necessary, especially using CK7 staining, which is usually positive (sensitivity of almost 100%), except in some rare cases such as ours. In these difficult cases, study of a wider panel of antibodies may be necessary for diagnosis.     

Pigmented spots as a sign of mammary Paget's disease

Pigmented mammary Paget's disease is a rare variant of mammary Paget's disease. The clinical appearance mimics malignant melanoma. This paper describes a case of asymptomatic, slightly pigmented spots on the right mammary nipple. The pigmented nipple was histopathologically diagnosed as mammary Paget's disease with an underlying intraductal carcinoma. This case suggests the importance of conducting skin biopsies of developing pigmented spots on the nipples in elderly people.     

Pigmented mammary Paget disease: dermoscopic, in vivo reflectance-mode confocal microscopic, and immunohistochemical study of a case

BACKGROUND: Pigmented mammary Paget disease represents a rare variant of mammary Paget disease that clinically and dermoscopically simulates a melanoma. We report a case of pigmented mammary Paget disease mimicking a melanoma and describe the dermoscopic, reflectance-mode confocal microscopic, histological, and immunohistochemical features. OBSERVATIONS: A 70-year-old woman had a 5.5x4-cm pigmented plaque with a thin, scaly surface on her left breast; the plaque had slowly but progressively grown during the preceding 10 years. Dermoscopic examination showed a diffuse, light brown pigmentation with irregular black dots, small gray-blue structures, and irregular vessels. Confocal microscopic features, such as large reflecting cells with dark nuclei spreading upward in pagetoid fashion, were suggestive of melanoma. Histological evaluation integrated with immunohistochemical staining showed pigmented mammary Paget disease. CONCLUSIONS: This case demonstrates that the diagnosis of pigmented mammary Paget disease cannot be determined by clinical examination and dermoscopy alone. Therefore, immunohistochemical staining should be performed in growing lesions with equivocal clinical and dermoscopic aspects that are characterized by abundant pagetoid infiltration in hematoxylin-eosin-stained sections to avoid overlooking pigmented mammary Paget disease.     

Dermoscopy of Bowen's disease

BACKGROUND: Dermoscopy improves the diagnostic accuracy in pigmented skin lesions, but it is also useful in the evaluation of nonpigmented skin tumours as it allows the recognition of vascular structures that are not visible to the naked eye. Bowen's disease (BD) or squamous cell carcinoma in situ is usually nonpigmented, but may also rarely be pigmented. Objective To describe the dermoscopic features in a series of pigmented and nonpigmented BD. METHODS: Dermoscopic images of 21 histopathologically proven BD were evaluated for the presence of various dermoscopic features. Each lesion was photographed using the Dermaphot (Heine Optotechnik, Herrsching, Germany), at 10-fold magnification, and the colour slides were scanned to digital format using a Kodak Photo CD system. RESULTS: The majority of cases of BD revealed a peculiar dermoscopic pattern characterized by glomerular vessels (90%) and a scaly surface (90%). In addition, in pigmented BD small brown globules regularly packed in a patchy distribution (90%), and structureless grey to brown pigmentation (80%) were observed. CONCLUSIONS: Dermoscopy can be helpful for diagnosing BD because of the presence of repetitive morphological findings such as glomerular vessels and a scaly surface. In pigmented BD, small brown globules and/or homogeneous pigmentation can be seen as well.     

Pigmented mammary Paget disease and pigmented epidermotropic metastases from breast carcinoma

Pigmented mammary Paget disease is a rare clinicopathologic variant of mammary Paget disease. It has been described in female and male patients with intraductal mammary carcinoma extending to the epidermis of the nipple and areola through a lactiferous duct. Pigmented cutaneous metastases from breast carcinoma are uncommon variants of epidermotropic metastatic breast carcinoma. All these lesions may mimic malignant melanoma clinically and histopathologically. From a histopathologic point of view, involvement of the dermoepidermal junction by neoplastic cells of the mammary carcinoma seems to be a prerequisite for development of the clinical pigmentation. We report three examples of pigmented mammary Paget disease and six cases of pigmented epidermotropic metastases from breast carcinoma, which were studied from both the histopathologic and immunohistochemical points of view. Two cases of pigmented mammary Paget disease and all cases of pigmented epidermotropic metastatic breast carcinoma showed the proliferation of dendritic melanocytes arranged as solitary units along the dermoepidermal junction and intermingled with the neoplastic cells of the mammary carcinoma in the superficial dermis. In one case of pigmented mammary Paget disease, there was abundant melanin within the cytoplasm of the Paget cells, but an increased number of melanocytes could not be demonstrated. Local production of melanocytic chemotactic factor by neoplastic cells of the mammary carcinoma when they reach the dermoepidermal junction has been postulated as the cause of the melanocytic proliferation and clinical hyperpigmentation of these epidermotropic breast carcinomas. Another possibility is the phagocytosis or transfer of melanin from melanocytes to the intraepidermal neoplastic cells of the breast carcinoma. Pigmented mammary Paget disease and pigmented epidermotropic metastatic breast carcinoma should be differentiated from melanoma clinical and histopathologically.     

Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation

We report the first case of Dowling-Degos disease associated with squamous cell carcinomas (SCCs) in the pigmented area of Dowling-Degos disease. A 64-year-old Japanese man manifested dappled pigmentation unusually localized to the buttocks, and two pigmented adenoid SCCs had developed on his left pigmented buttock. The other findings of Dowling-Degos disease were comedone-like lesions on the face and back, a finger-like fibroma in the right popliteal fossa, dystrophic fingernails, and a large number of seborrhoeic keratosis-like lesions predominantly on the flexural areas. Another unique clinical feature was the lack of vellus hair on the whole body surface. In addition to thin branching and elongation of rete ridges with basal hyperpigmentation, immature hair follicles surrounded by fibrosis and a lace-like pattern of the hair follicle epithelia were observed histologically. These epithelial hamartomatous features were consistent with Dowling-Degos disease. We speculate that the SCCs developed in relation to an underlying naevoid anomaly in pilosebaceous epithelia of Dowling-Degos disease.     

Skin imaging: is it clinically useful?

Non-invasive skin imaging techniques have proliferated over the last decade. Whilst most have a research role, some are routinely used in dermatology clinics. Of these, the skin surface microscope (dermatoscope), a diagnostic aid for pigmented lesions, has had most clinical impact. Such devices, when linked to a videomicroscope for computer analysis, have been dubbed as 'mole scanners'. Mole scanners are increasingly available on a commercial basis even though computer diagnosis of pigmented lesions is currently no better than diagnosis by human experts. Meanwhile, other imaging techniques, such as high-resolution ultrasonography, spectroscopy and optical coherence tomography, may yet find a role in diagnosis and disease monitoring.     

Pigmented Paget's disease and pigmented breast cancer metastasis. Clinical and histologic simulation of malignant melanoma of the breast]

Pigmented epidermotropic breast carcinoma has to be included in the differential diagnosis of pigmented lesions of the breast. Two rare cases of pigmented Paget's disease and pigmented metastatic breast carcinoma are presented, which mimicked malignant melanoma in both clinical and histological criteria.     

Pigmented extramammary Paget disease of the abdomen: a potential mimicker of melanoma

Extramammary Paget disease (EMPD) is a rare condition that usually presents in areas that are rich in apocrine sweat glands such as the vulva, scrotum, and perianal areas. The majority of these tumors represent cutaneous extension from a visceral adenocarcinoma, whereas a smaller proportion arise in the cutaneous apocrine glands themselves. Women in their sixth to eighth decades are most commonly affected. It is exceedingly rare for EMPD to present on the face, chest, or abdomen, and even more unusual for it to present as a pigmented lesion. We report the case of a 63-year-old woman with an underlying colon cancer who presented with a pigmented lesion in the midline of the abdomen above the umbilicus. Immunohistochemical stains demonstrated the lesion to be CK7+/CK20- as well as negative for melanocytic markers (S100, MiTF, Melan-A, HMB-45). Further, the immunophenotype of the EMPD differed from the patient's underlying colon adenocarcinoma (CK20+/CK7-), arguing against an ectopic focus of her established disease. Making the distinction between pigmented EMPD and melanoma is a potential diagnostic pitfall because of the histologic similarities. Extramammary Paget disease should be considered in the morphologic differential diagnosis of melanoma and, if necessary, supporting studies should performed to aid in this distinction.     

Changing a concept--controversy on the confusing spectrum of the reticulate pigmented disorders of the skin

Galli-Galli disease (GGD) and Dowling-Degos disease (DDD) are inherited skin diseases with variable progressive course. They are of benign and harmless behaviour but aesthetically annoying. They are subsumed within the group of reticulate pigmented disorders of the skin to which, additionally, Kitamura's and Haber's diseases are counted. Clinical appearance is approximately similar, with slight differences in age of onset and associated disorders. Histopathological features are almost similar aside from the unique hallmark of suprabasal acantholysis, which can exclusively be observed in GGD. We report four typical cases of reticulate pigmented disorders, clinically accordable to DDD but histopathologically allocated to GGD. In conclusion, we purpose the idea of a wide spectrum of reticulate pigmented disorders in which Morbus Galli-Galli should probably be reclassified as a subset of DDD.     

Pigmented Paget's disease of the male breast: report of a case

An 83-year-old man with pigmented Paget's disease of the breast is reported. He had a blackish swollen right nipple with bloody discharge that lasted for 8 months. Histopathology of the lesion disclosed intraepidermal and dermal atypical cells forming small clusters and underlying intraductal carcinoma. Melanocytes were dispersed in the epidermis. Dermal melanophages were also detected. The atypical cells were positive for carcinoembryonic antigen, human-milk fat globule protein and a recently described new antigen, RCAS-1, but negative for S-100 or HMB-45. We diagnosed this case as Paget's disease of the male breast. Paget's disease of the breast is usually nonpigmented and occurs almost exclusively in women. Pigmented Paget's disease of the male breast is extremely rare, and only a few cases have been reported. Albeit rare, pigmented Paget's disease has to be included in the differential diagnosis of pigmented lesions of the nipple.     

Pigmented paget disease of the breast nipple with underlying infiltrating carcinoma: a case report and review of the literature

Paget disease of the breast represents a cutaneous manifestation of an underlying breast malignancy. The rare finding of a pigmented Paget disease mimicking melanoma represents a diagnostic problem. We report a case of a pigmented lesion involving the breast nipple with an underlying infiltrating breast carcinoma, and we describe the clinical presentation, histological findings, and immunohistochemical features with a review of reported cases.     

Pigmented malignant hidroacanthoma simplex mimicking irritated seborrheic keratosis

Pigmented variant of malignant hidroacanthoma simplex (PMHS) is very rare. We are aware of only two reported cases, all arising in pigmented hidroacanthoma simplex (HS). We report the third case of PMHS arising in a pigmented HS. A 71-year-old-woman presented with a well-demarcated pigmented hyperkeratotic tumor on the right knee resembling irritated seborrheic keratosis. Histopathologic examination of the excised tumor revealed intraepidermal proliferation of atypical polygonal poroid cells forming large, sharply demarcated nests with colonization of dendritic melanocytes. In addition, there were focal changes of a benign pigmented HS and syringofibroadenoma. The key diagnostic features of ductal structures and intracytoplasmic lumina were highlighted by carcinoembryonic antigen and epithelial membrane antigen immunostaining. PMHS should be differentiated from irritated seborrheic keratosis, melanoacanthoma, Bowen's disease and malignant melanoma both clinically and pathologically.