Dermal Duct Research Articles

Porokeratotic eccrine and ostial dermal duct nevus

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare benign eccrine nevoid hamartoma with only a few cases reported till date. It is characterized by asymptomatic or mildly pruritic pitted comedone-like papules on palms or soles and keratotic papules and plaques in a linear pattern on the extremities, usually present in childhood. We present here three interesting cases of the same. Diagnosis was confirmed by histopathology which showed parakeratotic columns overlying mature eccrine sweat glands in dermis and dyskeratotic cells of lower epidermis.

Advancing precision medicine in cutaneous oncology through 3D high-frequency ultrasound imaging.

e13625 Background: Clinical assessment of tumor depth and shape often requires biopsy, especially when evaluating skin cancers. High Frequency Ultrasound (HFUS) is a non-invasive clinical tool that can quickly produce high resolution images ideally suited for evaluating topical tumors. In comparison to other imaging modalities, HFUS do not always provide the spatial data required to model 3-dimensional (3D) tumors. Currently, 3D-images are an amalgamation of many segmented image slices. However, in outpatient clinics it is unrealistic for HFUS devices and clinicians to gather large sets of image data. In our present original research, we aimed to overcome limited number of HFUS and dermatoscopic images by constructing a simple framework to process sparse and non-spatial data into working 3D skin tumor models. Methods: We analyzed two different skin tumors, the dermal duct tumor (DDT) and basal cell carcinoma (BCC), each with different number of HFUS images at 30Hz and 50Hz respectively. 1 set of 6 parallel images were obtained for the BCC, while 2 orthogonal sets of 6 parallel images were obtained for the DDT. For each tumor, a single dermatoscopic photo and sets of bitmap HFUS images with a resolution of 1024 x 512 were taken. Our study was IRB-approved. Mathematica and MATLAB, both with accessible documentation, were used to process images. Results: We developed a novel algorithmic approach to produce 3D tumor models with limited medical data. Both tumors appear corporally hypoechoic under HFUS. Mathematica was used to first reduce HFUS image noise and binarize the tumor region with a bilateral Gaussian filter. The user-friendly MATLAB Image Segmenter application manually filled the region of interest. Next, Mathematica was used to orient and plot tumor borders in 3D. Finally, we encompassed the borders with a 3D convex hull to conservatively predict tight margins around the tumor. Conclusions: Our simplified approach allows clinicians and scientists to produce 3D renderings of tumor margins. Margin control must always be balanced with a positive surgical outcome. By approaching our 3D-model with a convex hull around sampled border cross-sections, we chose a conservative approach that focuses skin tumor margin evaluation. Our results promote precision medicine and planning into the current standard of skin cancer treatment. Our findings can allow tracking tumor progression or treatment possible via non-invasive evaluation of tumor depth and contour. An aim of our present research is to lower the barrier of 3D construction in clinical settings. Simple algorithms, such as shown in our work, transform orthogonal and sparse data into usable data that can be implemented to train machine learning and artificial intelligent programs. Future research tailoring this approach may allow instant programming of HFUS images to non-invasively render cutaneous tumor borders and depth in real time during clinical examination.

Poroid Neoplasms: A Clinicopathological Study of 13 Cases.

Poroid neoplasms (PN) are a heterogeneous group of tumors deriving from sweat glands and folliculo-sebaceous units. Their histological classification and clinical features are challenging. Our aim was to report clinicopathological features of poroid neoplasms. It is a retrospective study including all cases of poroid neoplasms registered at our Pathology laboratory of Niamey National Hospital (February 2020-February 2024). We registered 13 cases of benign poroid neoplasms: 10 classic poromas (CP) (76.9%), 2 poroid hidradenomas (PH) (15.4%) and 1 dermal duct tumor (DDT) (7.7%). Nine cases (69.2%) had preoperative clinical diagnosis of malignancy. The mean age was 41.1 years (range of 12-70 years) with a slight female predominance. Only 4/13 cases (30.8%) had classical palmoplantar locations. The tumors mean size was 3.7 cm (range of 0.4-8 cm). Clear cells were present in 7 cases (53.8%), apocrine ductal differentiation (mixed or pure) in 6 cases (46.2%), keratin horns in 2 cases (15.4%), squamous eddies in 6 cases (46.2%), melanin pigments in 1 case (7.7%) and sebaceous differentiation in 2 cases (15.4%). Unlike what is classically reported, our study shows that apocrine ductal differentiation, younger age and non-palmoplantar locations are common in poroid neoplasms.

A possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko and predominantly affects the extremities. This disease has recently been linked to somatic mutations within the GJB2 locus. Only four GJB2 mutations have been previously documented for PEODDN, and the underlying genetic basis remains inconclusive. Herein, we report an 18-year-old female with a hyperkeratotic plaque on the dorsa of the proximal interphalangeal joint of her right ring finger, as well as multiple small hyperkeratotic papules linearly distributed on the lateral sides of her fingers occurring since birth. Histopathological results revealed prominent parakeratotic cornoid lamella-like tiers at the opening of the eccrine secretory ducts. Whole-exome sequencing of the affected skin tissue revealed a heterozygous germline mutation and a postzygotic somatic mutation in GJB2. In summary, this study presents a case of PEODDN with compound heterozygous mutations in GJB2, which broadens the genetic spectrum of this disease entity and implies a possible role for second-hit mutations in the pathogenesis of PEODDN.

33701 Porokeratotic eccrine ostial and dermal duct nevus caused by a second-hit postzygotic GJB2 mutation

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko which predominantly affects the extremities, and the disease has recently been linked to GJB2 somatic mutations. To the best of our knowledge, only four mutations have been documented from GJB2 in pure PEODDN cases. Herein, we reported an 18-year-old female who presented with a hyperkeratotic plaque on the dorsal side of the proximal interphalangeal joint of her right ring finger as well as multiple small linear hyperkeratotic papules distributed over the lateral side of her her right index, middle and ring fingers noted since her birth. Histopathologic study revealed prominent parakeratotic cornoid lamella-like tiers at the opening of eccrine secretory ducts. Sanger sequencing focusing on the GJB2 gene revealed a germline heterozygous missense mutation, c.608T>C (p.Ile203Thr) in the blood and the epidermal tissue of the affected skin. Whole exome sequencing (WES) on the genomic DNA extracted from the lesional epidermis identified another second-hit postzygotic somatic reported missense mutation, c.263C>A (p.Ala88Glu) with low mosaic percentage of around 4% and reflecting the dilutional effect in biopsy of whole tissue and limit of detection by Sanger sequencing. In conclusion, this study presents a case of PEODDN with a complete genetic study identifying a germline mutation and a second-hit postzygotic somatic mutation; our findings strengthen the importance of second- hit somatic mutation in GJB2 as an etiology in PEODDN.

Ichthyosis follicularis syndromes in patients with mutations in GJB2.

Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180 patients with ichthyosis. In Family 1, the proband (Patient 1) presented with IF, bilateral sensorineural hearing loss and punctate palmoplantar keratoderma. Using DNA from peripheral blood lymphocytes, two compound heterozygous mutations, c.526A>G and c.35delG, were discovered in GJB2. In Family 2, the proband (Patient 2) presented with a previously unreported IF phenotype in the context of keratitis-ichthyosis-deafness syndrome, and whole-exome sequencing found a de novo heterozygous mutation, c.148G>A in GJB2. Histopathology was consistent with porokeratotic eccrine ostial and dermal duct naevus (PEODDN) and IF in Patients 1 and 2, respectively. Our findings add to the clinical and histopathological spectrum of IF and emphasize the association of PEODDN-like entities with GJB2 variants.

Dermal Duct Tumor: A Diagnostic Dilemma.

Poromas or poroid tumors are a group of rare, benign cutaneous neoplasms derived from the terminal eccrine or apocrine sweat gland duct. There are four poroma variants with overlapping features: dermal duct tumor (DDT), eccrine poroma, hidroacanthoma simplex, and poroid hidradenoma, of which DDT is the least common. Clinically, the variants have a nonspecific appearance and present as solitary dome-shaped papules, plaques, or nodules. They can be indistinguishable from each other and a multitude of differential diagnoses, necessitating a better understanding of the characteristics that make the diagnosis of poroid neoplasms. However, there remains a paucity of information on these lesions, especially DDTs, given their infrequent occurrence. Herein, we review the literature on DDTs with an emphasis on epidemiology, pathogenesis, clinical features, diagnosis, and management.

A Large Mass over the Foot due to the Coexistence of an Eccrine Poroma and a Poroid Hidradenoma: A Case Report.

Eccrine poroma and poroid hidradenoma are uncommon benign poroid neoplasms derived from eccrine sweat glands. There are four types of poroid neoplasms according to the position within the skin layer: hidroacanthoma simplex, eccrine poroma, dermal duct tumor, and poroid hidradenoma. Poroid neoplasms usually arise as slow-growing solitary lesions and can present different clinical presentations, such as a foot mass, an ulceration lesion, a solid cyst, a bleeding lesion or suspected melanoma. Extremities are the most common sites, especially hands and feet. However, the coexistence of these two tumors in a single lesion is extremely rare. Surgical excision represents the main treatment and can be curative, preventing malignant changes and recurrence. We describe a rare solitary tumor over the foot with clinical and histopathological features of an association of an eccrine poroma and a poroid hidradenoma that was surgically treated with no recurrence at the midterm follow-up. Level of Evidence IV, Case Report.

Linear lesions in dermatology: a clinicoaetiopathological study.

Linear lesions are fairly common in our daily practice. However, the appearance of these lesions can vary, thus complicating the diagnosis. To study the various clinical presentations, the demographic profile of patients and the clinicopathological correlations of dermatoses presenting with a linear distribution. We conducted an institution-based, cross-sectional, descriptive study of 281 consecutive patients with linear lesions attending dermatology clinics. MedCalc software (V11.6) was used for statistical analysis. Patients were divided into eight groups: lesions along the lines of Blaschko (n = 136), lesions along blood vessels (n = 3), lesions along lymphatics (n = 3), Koebner phenomenon (n = 24), autoinoculation (n = 24), external factors (n = 45), infestations (n = 2) and 'other' (n = 44). The mean age at presentation was 24.50 ± 18.82 years and the male/female ratio was 1.32 : 1. The commonest symptom was itching/burning (56.94% of patients), while the commonest site was the arm (44.48%); followed by the leg (30.60%), trunk and abdomen (22.42%), head and neck (19.20%), and genitalia (0.35%). Apart from the common cases, there was a wide gamut of rare conditions (e.g. angiokeratoma circumscriptum naeviforme, porokeratotic eccrine ostial and dermal duct naevus, Blaschko-linear syringocystadenoma papilliferum, progressive cribriform and zosteriform hyperpigmentation, unilateral naevoid acanthosis nigricans, fixed drug eruption, discoid lupus erythematosus). Linear lesions act as diagnostic clues to many dermatological conditions, therefore, the importance of meticulous examination in clinical dermatology cannot be overemphasized.

Porokeratotic eccrine ostial and dermal duct nevus: clinical, dermoscopic and histopathological features.

article: Porokeratotic eccrine ostial and dermal duct nevus: clinical, dermoscopic and histopathological features - Italian Journal of Dermatology and Venereology 2021 Jun 23 - Minerva Medica - Journals

Porokeratotic eccrine ostial and dermal duct nevus: A rare case report

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is an uncommon benign disorder that clinically mimicks comedo nevus but usually favors the palms and soles, where pilosebaceous follicles are absent. It also can present with widespread involvement along Blaschko's lines. It is a disorder of keratinisation involving the intraepidermal eccrine duct (acrosyringium) with classical histopathological examination findings (eccrine hamartoma and cornoid lamellation). The patient is a 32-year-old woman with a 12-year history of pruritic skin lesions on her right palm and index finger. Histopathological examination revealed multiple small epidermal invaginations with overlying parakeratotic cornoid lamellation and loss of granular layer. Few dyskeratotic cells are seen at the base of epidermal invagination. After clinic-pathologic correlation, the diagnosis of PEODDN was made. Late-onset and rare clinical presentation as pruritic lesion are the characteristic features that make this patient an extraordinary presentation of PEODDN.

Immune phenotype of patients with stage IV metastatic inflammatory breast cancer

BackgroundInflammatory breast cancer (IBC) is a rare but aggressive carcinoma characterized by severe erythema and edema of the breast, with many patients presenting in advanced metastatic disease. The “inflammatory” nature is not due to classic immune-mediated inflammation, but instead results from tumor-mediated blockage of dermal lymphatic ducts. Previous work has shown that expression of PD-L1 on tumor cells can suppress T cell activation in triple-negative (TN) non-IBC breast cancer. In the present work, we investigated immune parameters in peripheral blood of metastatic IBC patients to determine whether cellular components of the immune system are altered, thereby contributing to pathogenesis of the disease. These immune parameters were also compared to PD-1 and PD-L1 expression in IBC tumor biopsies.MethodsFlow cytometry-based immune phenotyping was performed using fresh peripheral blood from 14 stage IV IBC patients and compared to 11 healthy age-similar control women. Immunohistochemistry for CD20, CD3, PD-1, and PD-L1 was performed on tumor biopsies of these metastatic IBC patients.ResultsIBC patients with Stage IV disease had lymphopenia with significant reductions in circulating T, B, and NK cells. Reductions were observed in all subsets of CD4+ T cells, whereas reductions in CD8+ T cells were more concentrated in memory subsets. Immature cytokine-producing CD56bright NK cells expressed higher levels of FcγRIIIa and cytolytic granule components, suggesting accelerated maturation to cytolytic CD56dim cells. Immunohistochemical analysis of tumor biopsies demonstrated moderate to high expression of PD-1 in 18.2% of patients and of PD-L1 in 36.4% of patients. Interestingly, a positive correlation was observed between co-expression levels of PD-L1 and PD-1 in tumor biopsies, and higher expression of PD-L1 in tumor biopsies correlated with higher expression of cytolytic granule components in blood CD4+ T cells and CD56dim NK cells, and higher numbers of CD8+ effector memory T cells in peripheral blood. PD-1 expression in tumor also correlated with increased infiltration of CD20+ B cells in the tumor.ConclusionsOur results suggest that while lymphocyte populations are severely compromised in stage IV IBC patients, an immune response toward the tumor had occurred in some patients, providing biological rationale to evaluate PD-1/PD-L1 immunotherapies for IBC.

真皮导管瘤一例

Dermal duct tumor arising from the intradermal portion of the eccrine duct is a variant of benign eccrine sweat duct tumor. The tumor is a rare, usually occurs on the head and neck or limbs and presents as a non-characteristic, usually asymptomatic, flesh-colored or erythematous, firm nodule or papule. Histologically, the tumor lobules are located principally in the dermis with or without connection to the epidermis, showed similar architectural features and identical cytologic features of eccrine poroma. We report a case of dermal duct tumor which developed on the left calf area in a 57-year-old male patient.

Porokeratotic eccrine ostial and dermal duct nevus with extensive linear distribution: a case report

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is known as an uncommon disorder of keratinization in which acrosyringium is involved; however, its causes have yet remained unknown. It is presented clinically by discrete keratotic papules on distal extremities arranged in a linear pattern along Blaschko lines. Histopathologically, it is characterized by cornoid lamella, which is almost always located overlying an acrosyringium. We present a case with an unusual presentation of extensive PEODDN lesions along the lower extremity. Our case was a young woman presented with multiple keratotic elevated papules on her left sole since her birth. In continuity with the lesions on her sole, a linear plaque was extended up to her buttock. Histopathology showed hyperkeratosis with cornoid lamella overlying the acrosyringium. The rarity of PEODDN and interesting presentation of the lesions on the sole of our patient with extension in a linear Blaschko pattern up to her buttock resembling verrucous linear epidermal nevus encouraged us to present this case.

Numerical modelling of the interaction between eccrine sweat and textile fabric for the development of smart clothing

PurposeLive non-invasive monitoring of biomarkers is of great importance for the medical community. Moreover, some studies suggest that there is a substantial business gap in the development of mass-production commercial sweat-analysing wearables with great revenue potential. The objective of this work is to quantify the concentration of biomarkers that reaches the area of the garment where a sensor is positioned to advance the development of commercial sweat-analysing garments.Design/methodology/approachComputational analysis of the microfluidic transport of biomarkers within eccrine sweat glands provides a powerful way to explore the potential for quantitative measurements of biomarkers that can be related to the health and/or the physical activity parameters of an individual. The numerical modelling of sweat glands and the interaction of sweat with a textile layer remain however rather unexplored. This work presents a simulation of the production of sweat in the eccrine gland, reabsorption from the dermal duct into the surrounding skin and diffusion within an overlying garment.FindingsThe model represents satisfactorily the relationship between the biomarker concentration and the flow rate of sweat. The biomarker distribution across an overlying garment has also been calculated and subsequently compared to the minimum amount detectable by a sensor previously reported in the literature. The model can thus be utilized to check whether or not a given sensor can detect the minimum biomarker concentration threshold accumulated on a particular type of garment.Originality/valueThe present work presents to the best of our knowledge, the earliest numerical models of the sweat gland carried out so far. The model describes the flow of human sweat along the sweat duct and on to an overlying piece of garment. The model considers complex phenomena, such as reabsorption of sweat into the skin layers surrounding the duct, and the structure of the fibres composing the garment. Biomarker concentration maps are obtained to check whether sensors can detect the threshold concentration that triggers an electric signal. This model finds application in the development of smart textiles.

Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as 'comedo nevus' and renamed 'PEODDN'; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair follicle nevus, and porokeratotic adnexal ostial nevus. PEODDN is usually present at birth or develops early in life. Rarely, PEODDN can develop in adults. The treatment of this puzzling condition is not standardized. We report herein a new case of adultonset PEODDN with dermatoscopic images. Our patient responded favorably to topical tazarotene.

Bilateral Systematized Porokeratotic Eccrine Ostial and Dermal Duct Nevus.

Bilateral Systematized Porokeratotic Eccrine Ostial and Dermal Duct Nevus.

Dermoscopic-Histopathological Correlation of Eccrine Poroma: An Observational Study.

Eccrine poroma (EP) is a benign adnexal neoplasm that can be pigmented in 17% of cases. Four histopathological variants of EP exist. Dermoscopically, EP can mimic many other skin neoplasms. To provide a dermoscopic-histopathological correlation of EP, classifying the clinical and dermoscopic features of EPs on the basis of their histopathological subtype, in an attempt to better characterize these entities. A single-center retrospective study was conducted. Clinical data were collected; patients were classified on the basis of the 4 histopathological variants of EPs. Dermoscopic images were reviewed. A dermoscopic-histopathological correlation was performed, and the results were compared with literature data. Twenty-six lesions were included, both pigmented and nonpigmented. Three of the 4 histopathological variants were identified. Different dermoscopic features were observed for each distinct histopathological subtype of EP. The lesions mimicked different types of other skin neoplasms, in particular: nonpigmented hidroacanthoma simplex resembled nonmelanoma skin cancer; pigmented hidroacanthoma simplex appeared like a seborrheic keratosis or a solar lentigo; EPs sensu stricto presented as pink nodules if nonpigmented and were similar to seborrheic keratosis if pigmented; dermal duct tumors appeared as pigmented nodular lesions. Distinct dermoscopic features appeared to be recurrent in each histopathological variant. Dermoscopy can provide important clues for the diagnosis of EP; the final diagnosis is allowed by histopathology. To achieve a correct diagnosis of EP, because of its clinical and dermoscopic variability, surgical excision is recommended.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus and Porokeratotic Eccrine and Hair Follicle Nevus: Is Nomenclature "Porokeratotic Adnexal Ostial Nevus" More Appropriate?

Porokeratotic Eccrine Ostial and Dermal Duct Nevus and Porokeratotic Eccrine and Hair Follicle Nevus: Is Nomenclature "Porokeratotic Adnexal Ostial Nevus" More Appropriate?

Generalized unilateral porokeratotic eccrine ostial and dermal duct nevus along the lines of blaschko: A rare entit

Generalized unilateral porokeratotic eccrine ostial and dermal duct nevus along the lines of blaschko: A rare entit