Follicular Basaloid Hamartoma and Associated Cutaneous Tumors: Clinical, Histopathological and Dermoscopic Aspects.

Background: Basaloid follicular hamartoma is an uncommun benign neoplasm of the hair follicule. The linear form of basaloid follicular hamartoma can be associated with basal cell carcinoma.OBJECTIVE: We report a case of a patient with multiple basal cell carcinomas developing on a congenital lesion allowing the diagnosis of basaloid follicular hamartoma on histopathology. Methods: Each lesion was evaluated by two dermatologists. All biopsy specimens were routinely stained with hematoxylin-eosin. Results: A 76 year-old-man consulted our dermatology departement for erythematous papules spread over the left lower limb. The lesion had been evolving since birth with flesh-colored to pinkish papules following Blaschko's lines from the root of the thigh to the foot. Three months before consultation, the papules increased in size leading to nodules with sometimes an ulcerated center. Dermoscopy under polarized mode displayed for ulcerated lesions (A) yellow-brownish crusts and ulceration surrounded by blue-grey ovoid nests, subtle short white streaks, brown dots and linear/arborising vessels. For nodular lesions (B), dermoscopic features are white pinkish hue, dotted and linear vessels, brown dots, blue-grey structureless areas and white prominent shiny streaks. There were some more erythematous inflamed and eroded areas in the background with a reversed honeycomb white network on dermoscopy (C), polymorphous vessels, whitish scales, ulcerations and milia-like cysts. The background lesion showed varied dermoscopic structures on a flesh colored slightly pinkish bottom (D). Histolopathology concluded for lesions A to an infiltrating and nodular basal cell carcinoma, (B) and (C) to fibroepithelioma of Pinkus and (D) to basaloid follicular hamartoma. Conclusion: Several case reports have documented dermoscopic features of a solitary basaloid follicular hamartoma. However, further studies are required to specify any reproducible features.

Inverted Follicular Keratosis: A Retrospective Study Over 10 Years.

Inverted follicular keratosis (IFK) is a rare benign tumour of the follicular infundibulum characterized by exo-endophytic growing. Generally, the diagnosis of IFK is histopathologically made because clinical differentiation from other lesions is difficult. We present a retrospective series with thirteen patients with histologically confirmed IFK to evaluate the epidemiological, clinical and histopathologic characteristics of IFK. The mean age of the patients at the time of the excision was 53 years with extremes ranging from 19 to 82 years. The sex ratio M/F was 3.3. The lesions affected the face in nine patients mainly the moustache, followed by the scalp in three cases and the arm in one case, and 92% of the localizations are sun-exposed. The diagnosis was never clinically evoked. The lesion had a pink colour in ten cases and was pigmented in two cases and hypopigmented in one case. More than half of the lesions (53%) had a keratotic centre. Histopathological examination showed endophytic intradermal proliferation of basaloid cells with a variable degree of squamoid differentiation. Horn cysts were present in all cases. According to our series, the IFK occurs predominantly in young men, in the face and more specifically in the moustache. Dermoscopy may suggest the diagnosis of the IFK. In fact, a histopathological examination is the gold standard for the diagnosis of the IFK and helps differentiate these benign tumours from possible malignant neoplasms.

Extragenital Lichen Sclerosus: A Retrospective Study of 17 Patients.

Introduction: Lichen sclerosus is a chronic inflammatory and atrophic dermatosis affecting preferentially the anogenital region. However, the cutaneous involvement remains less known and studied. Methods: We collected 17 patients to study the clinical and therapeutic features of cutaneous lichen sclerosus. Results: We noticed that the frequency of extragenital involvement in our series is high (about 40%). There is a female predominance (76%), with two infantile cases presenting a severe involvement. On the other hand, the absence of sclerosis, in early forms, does not eliminate the diagnosis. Moreover, breast involvement was frequent (41%) and atypical locations, such as the face, were reported. There was an equal frequency between the diffuse and the localized forms. A genital involvement must imperatively be sought. Conclusions: Our series mention the frequency of isolated cutaneous lichen sclerosus. Clinical presentation can be misleading in the early forms because of lack of sclerosis, variability of localizations, variability of severity, and the absence of anogenital lichen sclerosus.

An orange peel-like nodule on the back: A case of Wells syndrome.

Wells syndrome is a rare eosinophilic syndrome, associating inflammatory lesions, suggestive histological images and frequent eosinophilia. Wells syndrome is characterized by multiplicity of anatomoclinical forms. Clinically, lesions may be urticarial, annular, papulonodular, papulovesicular or bullous. On histopathology, the flame aspect is by no means specific and late.

Primary cutaneous Rosai-Dorfman-Destombes disease with features mimicking IgG4-related disease: A challenging case report and literature review.

Rosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder affecting lymph nodes as well as extranodal sites. Although cutaneous involvement in RDD is common, primary cutaneous RDD is a distinct and not well-documented entity with unknown aetiology and non-specific clinicopathological features. We report a case of a 57-year-old patient, who presented with an indolent skin nodule in the left sub-nipple area. Surgical excision was performed. Histological examination concluded to the diagnosis of cutaneous RDD with histological features mimicking IgG4-related disease. The diagnosis of systemic RDD with cutaneous involvement was ruled out after exclusion of extracutaneous involvement. No recurrence or systemic progression was observed during follow-up. The diagnosis of primary cutaneous RDD is very uncommon and hence is challenging for pathologist and dermatologist especially with features of IgG4-related disease. Careful systemic and microscopic examinations help in establishing the appropriate diagnosis.

Immune checkpoint CD155 promoter methylation profiling reveals cancer-associated behaviors within breast neoplasia.

BACKGROUND: CD155 immune checkpoint has recently emerged as a compelling immunotherapeutic target. Epigenetic DNA methylation changes are recognized as key molecular mechanisms in cancer development. Hence, the identification of methylation markers that are sensitive and specific for breast cancer may improve early detection and predict prognosis. We speculate that CD155 promoter methylation can be a valuable epigenetic biomarker, based upon strong indications for its immunoregulatory functions. METHODS: Methylation analyses were conducted on 14 CpGs sites in the CD155 promoter region by bisulfite pyrosequencing. To elucidate the related gene expression changes, a transcriptional study using RT-qPCR was performed. Statistical analyses were performed to evaluate correlations of CD155 methylation profiles with mRNA expression together with clinical-pathological features, prognosis and immune infiltrate. RESULTS: CD155 promoter methylation profile was significantly associated with SBR grade, tumor size, molecular subgroups, HER2 and hormonal receptors expression status. Low CD155 methylation rates correlated with better prognosis in univariate cox proportional hazard analysis and appeared as an independent survival predictor in cox-regression multivariate analysis. Further, methylation changes at CD155 specific CpG sites were consistent with CD155 membranous mRNA isoform expression status. Statistical analyses also showed a significant association with immune Natural Killer cell infiltrate when looking at the CpG7, CpG8, CpG9 and CpG11 sites. CONCLUSION: Altogether, our results contribute to a better understanding of the impact of CD155 immune checkpoint modality expression in breast tumors, revealing for the first time that specific CpG sites from CD155 promoter may be a potential biomarker in breast cancer monitoring.

Diffuse dermal angiomatosis of the breast with adjacent fat necrosis: a case report and review of the literature.

Diffuse dermal angiomatosis (DDA) is a type of reactive skin angioproliferation. Clinically, this rare disorder presents as red-violet purpuric papules and/or plaques (some with a greater tendency towards necrosis and ulceration), which can be localized in any body area, but is most often seen in the upper and lower extremities. Localization in the breast commonly presents with severe intractable breast pain and characteristic reticular violaceous erythematous plaques with central ulcerations. Histological examination is fundamental for the diagnosis and is characterized by varied patterns of lobular or diffuse hyperplasia of endothelial cells at the extravascular level. The condition is associated with various underlying conditions, many of which result in local tissue ischemia. In this report, we present a patient with DDA with an underlying mass lesion of the breast, which proved to be an adjacent fat necrosis. Various treatments have proven beneficial, including revascularization, oral corticosteroids, smoking cessation, and isotretinoin. In this case, our patient benefited from secondary excision of the affected area.

The Increased Expression of Toll-Like Receptor 4 in Renal and Skin Lesions in Lupus Erythematosus.

Toll-like receptor 4 (TLR-4), a bacterial lipopolysaccharide sensor, is an innate immunity essential modulator. It is expressed on both immune and non-immune cells and may contribute to the cutaneous and renal manifestations during lupus erythematosus (LE). Our purpose is to evaluate TLR-4 expression and analyzing its role in lupus nephritis (LN) and chronic cutaneous lupus erythematosus (CLE) pathogenesis. TLR-4 immunohistochemical staining was performed on 30 LN renal biopsies compared with 11 healthy renal tissues and 30 skin biopsies from CLE patients compared with 15 normal individuals. CLE patients' biopsies showed a strong and diffuse TLR-4 expression throughout the epidermis and labeled inflammatory infiltrate and glands in the dermis whereas controls' skin expressed weakly TLR-4 only in the epidermis basal layer. LN glomeruli and tubules showed an increased and more intense TLR-4 expression compared with normal controls where TLR-4 expression was weak and rarely detected in glomeruli, diffuse and weak in tubules. A significant difference in TLR-4 expression between LN classes, both in glomeruli and tubules, was observed. These data confirm an up-regulation of TLR-4 expression in the affected tissues of CLE and LN patients and highlight the critical role of TLR-4 in the pathogenesis of cutaneous and renal disorders in LE.

Mammary neuroendocrine carcinoma with mucinous differentiation: a clinicopathological study of 15 cases.

BACKGROUND: Mammary neuroendocrine carcinoma (NEC) displays morphological features including mucinous type. OBJECTIVE: To describe clinicopathological of NEC with mucinous differentiation. METHODS: A total of 15 cases of mammary NEC with mucinous differentiation were reviewed. RESULTS: All patients in this study were women aged from 37 to 78 year olds (median 68.1 years). The tumors ranged in size from 1.2 cm to 16 cm (mean 3.74 cm). The amount of extracellular mucin varied from 10% to 90%. Histological grade was I in 7 cases and II in 8 cases. Immunohistochemically, estrogen receptor (ER) and progesteron receptor (PR) were expressed in 12 and 14 cases, respectively. All tumors were negative for Her-2. Ki-67 proliferative index was lesser than 1% in all cases and no cases had demonstrated p53 overexpression. Three patients died of disease with a follow-up of 3 to 6 months. One patient was alive with metastasis at 96 months. Ten patients were disease free (follow-up range from 15 to 125 months). CONCLUSIONS: Mammary NEC with mucinous differentiation affects mostly older women. All tumors were low grade and immunoreactive for ER/PR and negative for Her-2. Mammary NEC with mucinous differentiation seems associated with well survival parameters.

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.

Renal tubular dysgenesis is a clinical disorder that is observed in fetuses and characterized by the absence or poor development of proximal tubules, early onset and persistent oligohydramnios that leads to the Potter sequence, and skull ossification defects. It may be acquired during fetal development or inherited as an autosomal recessive disease. It was shown recently that autosomal recessive renal tubular dysgenesis is genetically heterogeneous and linked to mutations in the genes that encode components of the renin-angiotensin system. This study analyzed the clinical expression of the disease in 29 fetus/neonates from 18 unrelated families and evaluated changes in renal morphology and expression of the renin-angiotensin system. The disease was uniformly severe, with perinatal death in all cases as a result of persistent anuria and hypoxia related to pulmonary hypoplasia. Severe defects in proximal tubules were observed in all fetuses from 18 gestational weeks onward, and lesions also involved other tubular segments. They were associated with thickening of the renal arterial vasculature, from the arcuate to the afferent arteries. Renal renin expression was strikingly increased in 19 of 24 patients studied, from 13 families, whereas no renal renin was detected in four patients from three families. Angiotensinogen and angiotensin-converting enzyme were absent or present in only small amounts in the proximal tubule, in correlation with the severity of tubular abnormalities. No specific changes were detected in angiotensin II receptor expression. The severity and the early onset of the clinical and pathologic expression of the disease underline the major importance of this system in fetal kidney function and development in humans. The identification of the disease on the basis of precise histologic analysis and the research of the genetic defect now allow genetic counseling and early prenatal diagnosis.