-
Diagnostics (Basel, Switzerland) May 2022Multinucleate cell angiohistiocytoma (MCAH) is a rare, benign, vascular or fibrohistiocytic tumor usually presenting as single or multiple, reddish-brown papules mostly...
Multinucleate cell angiohistiocytoma (MCAH) is a rare, benign, vascular or fibrohistiocytic tumor usually presenting as single or multiple, reddish-brown papules mostly affecting the limbs and dorsum of the hands of middle-aged females. Since 1985, relatively few MCAH cases have been reported. In vivo reflectance confocal microscopy (RCM) findings of MCAH have never been described. We report a case of MCAH with new non-invasive imaging findings through RCM in correlation with dermoscopy and histopathology. A 66-year-old woman with an unremarkable family and personal history of an atypical nevus presented with a lesion on her right breast. It had appeared 12 months earlier and progressively enlarged. Physical examination revealed a 20 × 11.6 mm, non-tender, reddish-brown maculo-papular lesion with blurred margins. Dermoscopy showed diffusely arranged reddish areas, coalescing whitish patches, truncated and dotted vessels, and a peripheral brown reticulated pattern. RCM revealed a poorly outlined lesion with a normal honeycomb pattern, numerous vessels at the dermal-epidermal junction, and isolated, large, mildly reflective, bizarre structures with angulated edges. These findings correlated well with histological features, which established the diagnosis of MCAH. Even though histopathology remains the gold standard in the diagnosis of MCAH, non-invasive tools such as RCM can help rule out other entities, therefore reducing surgery-associated morbidity.
PubMed: 35626431
DOI: 10.3390/diagnostics12051276 -
Journal of Oral & Maxillofacial Research 2022Oral melanocytic nevi are relatively rare in comparison to their cutaneous counterparts. The aim of this manuscript is to present a case of acquired compound oral...
BACKGROUND
Oral melanocytic nevi are relatively rare in comparison to their cutaneous counterparts. The aim of this manuscript is to present a case of acquired compound oral melanocytic nevi on the hard palatal mucosa of a child.
METHODS
A 5-year-old female girl was referred for evaluation of a pigmented lesion on the hard palate. The lesion was asymptomatic and present for approximately 2 months. Oral clinical examination revealed a well-circumscribed brownish macule on the hard palatal mucosa, adjacent to the left first primary upper molar. Considering the recent onset of the lesion, biopsy was recommended, but the patient returned 3 years later, when increase in size with slight asymmetry and colour variation were noticed. An excisional biopsy was performed.
RESULTS
Microscopic examination revealed nevus cells randomly distributed along the basal cell layer and organized into nests along the junctional area and within the papillary layer of lamina propria, while immunohistochemical evaluation showed positivity of nevus cells for SOX-10 and Melan-A. A final diagnosis of compound melanocytic nevi was rendered, and the patient was advised to attend regular follow-up appointments.
CONCLUSIONS
Although oral melanocytic nevi are rare in childhood, their potential development should not be overlooked. Acquired oral melanocytic nevi need to be differentiated from several other common (e.g. amalgam tattoo) and uncommon (e.g. melanoma) oral pigmented lesions, as well as from the more rare congenital oral melanocytic nevi. Oral melanocytic nevi with junctional activity (i.e. junctional, compound subtypes) appear to be more common in children, possibly reflecting an earlier developmental stage.
PubMed: 35574207
DOI: 10.5037/jomr.2022.13105 -
The American Journal of Dermatopathology Oct 2022Conjunctival melanocytic proliferations are diagnostically challenging, often complicated by small specimen size, and are separated into 3 broad categories. The first...
PRAME Expression in Junctional Melanocytic Proliferations of the Conjunctiva: A Potential Biomarker for Primary Acquired Melanosis/Conjunctival Melanocytic Intraepithelial Lesions.
Conjunctival melanocytic proliferations are diagnostically challenging, often complicated by small specimen size, and are separated into 3 broad categories. The first group includes benign nevi and primary acquired melanosis (PAM) without atypia. The second group includes junctional melanocytic proliferations with a risk of progression to invasive melanoma (PAM with atypia). The last category is conjunctival melanoma, of which 65% of tumors arise in the setting of PAM with atypia. Preferentially expressed antigen in melanoma (PRAME) immunohistochemistry has been widely adopted to differentiate cutaneous nevi and melanoma. However, there are limited studies on its utility in the evaluation of conjunctival melanocytic proliferations with little data regarding its potential utility in stratifying PAM. Twenty-eight clinically annotated cases (14 PAM without atypia and 14 PAM with atypia) were retrospectively evaluated with PRAME/MART-1 duplex immunohistochemistry and were assigned the commonly used PRAME immunoreactivity score: 0 for no staining, 1+ for 1%-25% of cells positive, 2+ for 26%-50%, 3+ for 51%-75%, and 4+ for >75%. PAM without atypia showed low (0-3+) PRAME expression in 14 of 14 cases (100%). PAM with atypia showed strong and diffuse (4+) PRAME expression in 12 of 14 cases (86.7%). Seven of eight (87.5%) PAM with severe atypia, 4 of 4 PAM (100%) with moderate atypia, and 1 of 2 PAM (50%) with mild atypia showed 4+ PRAME expression. In addition, all 5 cases that recurred or progressed (all classified as PAM with atypia) showed 4+ PRAME expression. Although additional larger studies are needed, PRAME seems to be a useful adjunct in evaluating junctional melanocytic proliferations of the conjunctiva.
Topics: Antigens, Neoplasm; Biomarkers; Conjunctiva; Conjunctival Neoplasms; Humans; Melanoma; Melanosis; Neoplasm Recurrence, Local; Nevus; Retrospective Studies; Skin Neoplasms
PubMed: 35475786
DOI: 10.1097/DAD.0000000000002201 -
Journal of Cosmetic Dermatology Oct 2022Although choosing the appropriate treatment method is relatively easy for papular or protuberant lesions, for small macular lesions it may not be so, because they are...
BACKGROUND
Although choosing the appropriate treatment method is relatively easy for papular or protuberant lesions, for small macular lesions it may not be so, because they are generally percepted as mild lesions by the patient and she/he usually has the anxiety of final disfigurement which may result esthetically worse than the original one. It is reasonable to choose the method which will reveal the least scar formation and lowest recurrence rate with cost-effectiveness, in removal of superficial small macular lesions for cosmetic purposes.
METHODS
Fifty-six male and female patients with small hyperpigmented flat or macular lesions, less than or equal to 5 mm diameter on their face, who referred to hospital dermatology clinic for removal and received an interventional therapy with a radio-wave surgery unit in the years 2018-2019 were retrospectively recruited. Besides the observation of scar formation and residual erythema, 3-month recurrence rates were also analyzed.
RESULTS
At the end of 3 months, there was no scar on any lesion site. Mild erythema was detected on 15 lesion sites out of a total of 218 (6.9%).The total recurrence rate was 7.7%. The mean age of the patients with at least one recurrence was significantly greater than the patients with no recurrence, and the lesions greater than 3 mm were more prone to recur than the lesions less than or equal to 3 mm.
CONCLUSION
Although no method of lesion removal can warrant a scarless result without recurrence, for benign macular hyperpigmented lesions of the face up to 5 mm in diameter, radio-wave surgery may be preferred due to both its minimal scar formation and recurrence rate, in addition to its cost-effectiveness.
Topics: Humans; Male; Female; Skin Neoplasms; Retrospective Studies; Cicatrix
PubMed: 35427435
DOI: 10.1111/jocd.14995 -
The American Journal of Surgical... Aug 2022Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little...
Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.
Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little has been reported about the associated genetic drivers in addition to BRAF and MAP2K1 mutations or PRKCA gene fusions. Here, we present a series of 21 cases of PRKAR1A -inactivated melanocytic tumors in which we could assess the associated genetic background. We identified 9 different driver genes related to the common, Spitz, blue nevi, and PRKC -fused groups. Nine cases were associated with a canonical BRAF p.V600E mutation, a hallmark of the common nevus group. They occurred mainly in young adults. All were combined (biphenotypic) cases with a variable proportion of compound nevus. The pigmented epithelioid melanocytoma component was made of thin fascicules or isolated epithelioid cells covered by a dense hyperpigmented melanophage background and was predominantly located in the upper dermis. One such case was malignant. Six cases were associated with Spitz-related genetic anomalies ranging from HRAS or MAP2K1 mutations to gene fusions involving MAP3K8 , MAP3K3 , and RET . They occurred mainly in children and young adults. Morphologically, they showed large confluent junctional nests in a hyperplastic epidermis and a fascicular dermal component of spindled and epithelioid melanocytes with a frequent wedged silhouette. Intravascular invasion was observed in 4/6 cases. Five cases were associated with canonical mutations of the blue nevus group with 4 CYSLTR2 p.L129Q and 1 GNAQ p.Q209L mutations. They were removed mainly in adults and showed a frequent junctional component with epidermal hyperplasia. The dermal component showed dense fascicules of spindled and epithelioid melanocytes predominating over melanophages. One case occurred in a PRKCA -fused tumor in an adolescent with classic morphologic features. These results could potentially shift the concept of PRKAR1A -inactivated melanocytoma, changing from a rather unified model to a more complex one, including genetic subgroup variations with clinical and morphologic specificities. The genetic background of PRKAR1A -inactivated melanocytic tumors should be systematically explored to better understand the extent and clinical behavior of these complex lesions.
Topics: Adolescent; Child; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Genetic Background; Humans; Nevus; Nevus, Blue; Nevus, Epithelioid and Spindle Cell; Proto-Oncogene Proteins B-raf; Skin Neoplasms; Young Adult
PubMed: 35319526
DOI: 10.1097/PAS.0000000000001888 -
Experimental Dermatology Jul 2022Differential diagnosis of extrafacial flat pigmented lesions with dermoscopic reticular and/or homogeneous pattern is challenging. Dendritic cells upon reflectance...
Differential diagnosis of extrafacial flat pigmented lesions with dermoscopic reticular and/or homogeneous pattern is challenging. Dendritic cells upon reflectance confocal microscopy (RCM) still represent a pitfall. This study aims to determine the role of dendritic cells upon RCM in the epidermis and dermo-epidermal junction (DEJ), together with common RCM features for melanoma and nevi, in dermoscopically equivocal extrafacial flat pigmented lesions. A retrospective evaluation of RCM images of melanocytic extrafacial flat pigmented lesions with reticular and/or homogeneous dermoscopic pattern and with histopathological diagnosis, was performed. A multivariate model of RCM features was used to obtain a score of independent risk factors. A total of 698 lesions were included. Increasing patient age, epidermal dendritic cells, many dendritic cells in the DEJ (>30%) and many (>5/mm ) round atypical cells were independent risk factors for melanoma. Edged papillae and melanophages were indicative of nevus. A score based on these features was developed to assist in melanoma differential diagnosis. The RCM observation of abundant (>30%) dendritic cells in the DEJ is highly suggestive of malignity. This independent risk factor should also be considered for improved differential diagnosis of extrafacial melanoma.
Topics: Dendritic Cells; Dermoscopy; Diagnosis, Differential; Humans; Melanoma; Microscopy, Confocal; Nevus; Retrospective Studies; Skin Neoplasms
PubMed: 35220636
DOI: 10.1111/exd.14553 -
PloS One 2022Some melanocytic lesions do not present enough clinical and dermoscopic features to allow ruling out a possible melanoma diagnosis. These "doubtful melanocytic lesions"...
Some melanocytic lesions do not present enough clinical and dermoscopic features to allow ruling out a possible melanoma diagnosis. These "doubtful melanocytic lesions" pose a very common and challenging scenario in clinical practice and were selected at this study for reflectance confocal microscopy evaluation and subsequent surgical excision for histopathological diagnosis. The study included 110 lesions and three confocal features were statistically able to distinguish benign melanocytic lesions from melanomas: "peripheral hotspot at dermo-epidermal junction", "nucleated roundish cells at the dermo-epidermal junction" and "sheet of cells". The finding of a peripheral hotspot (atypical cells in 1mm2) at the DEJ is highlighted because has not been previously reported in the literature as a confocal feature related to melanomas.
Topics: Diagnosis, Differential; Humans; Melanoma; Microscopy, Confocal; Nevus, Pigmented; Retrospective Studies; Sensitivity and Specificity
PubMed: 35157706
DOI: 10.1371/journal.pone.0263819 -
Dermatology and Therapy Feb 2022Topical imiquimod is an off-label alternative treatment for lentigo maligna used when surgery cannot be performed. Severe inflammatory response induced by this drug may...
Topical imiquimod is an off-label alternative treatment for lentigo maligna used when surgery cannot be performed. Severe inflammatory response induced by this drug may generate many complaints and force patients to discontinue use. We present a case in which interval treatment with 5% topical imiquimod was implemented for severe inflammatory response. An 82-year-old Caucasian woman presented with a large, irregularly pigmented lesion on her left cheek within the scar of a previously excised melanocytic lesion diagnosed as junctional nevus. Based on dermatoscopical examination confirmed by histopathological description, lentigo maligna was diagnosed. Since the lesion was large and covered the lower left eyelid and due to the risk of disfigurement, the patient refused surgical excision. Therefore, treatment with imiquimod 5% once daily, five times per week, was offered. After 5 weeks, the treatment was stopped because of intense inflammatory reaction and ulceration. On the follow-up visit after 3 months, videodermatoscopical examination revealed changes in the pigmentation of the lentigo maligna including the presence of residual gray dots and fading of the previous dark brown and black colors. The inflammatory response had almost resolved. The second course of treatment with imiquimod five times a week was implemented again for 5 weeks, and after a 2-month interval the third course with the same regimen was started. Total clearance of the lesion was achieved, which was confirmed by videodermatoscopical examination. During the 2-year follow-up, no relapse was observed based on dermatoscopical examination. We propose interval treatment with topical imiquimod 5% lentigo maligna for severe inflammatory reactions in patients with contraindications to surgery. This could help patients overcome this typical response effect and decrease their cessation of treatment.
PubMed: 35083713
DOI: 10.1007/s13555-021-00667-w -
The Journal of Dermatology Mar 2022Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin 26. These...
Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin 26. These syndromes are characterized by severe skin disease, hearing loss, recurrent infections, and cutaneous neoplasms. Cutaneous somatic mutations in the same gene are associated with porokeratotic eccrine ostial dermal duct nevus. Here we report a family in which a parent presented with localized epidermal nevus and his child suffered with hystrix-like ichthyosis with deafness. Histologic examination of the parent's cutaneous lesion revealed verrucous epidermal nevus without features of porokeratotic eccrine ostial dermal duct nevus. Genetic analysis identified the same pathogenic variant, GJB2 c.148G>A (p.D50N), in DNA extracted from the parent's cutaneous lesion and the child's leukocytes, but not in the parent's leukocytes. This study expands the phenotypic heterogeneity of GJB2 mosaic variants in addition to porokeratotic eccrine ostial dermal duct nevus, and emphasizes the importance of molecular diagnosis of mosaic skin diseases considering the risk of severe inherited diseases in the offspring.
Topics: Child; Connexin 26; Deafness; Humans; Ichthyosis; Mosaicism; Mutation; Nevus; Parents
PubMed: 34889473
DOI: 10.1111/1346-8138.16268 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... Nov 2021To explore the effectiveness and safety of Pacman flap for repair of eyelid and periocular soft tissue defects.
OBJECTIVE
To explore the effectiveness and safety of Pacman flap for repair of eyelid and periocular soft tissue defects.
METHODS
The clinical data of 12 patients who underwent repair of eyelid and periocular soft tissue defects with Pacman flap between April 2015 and September 2020 was retrospectively reviewed. There were 5 males and 7 females, aged from 18 to 87 years, with a median age of 63 years. The disease duration ranged from 6 months to 50 years, with a median time of 3 years. The defect was located on the lateral eyelid in 5 cases, inferior eyelid in 3 cases, inferior and medial eyelid in 2 cases, inferior and lateral eyelid in 2 cases, and lateral eyebrow in 1 case. Pathological diagnosis included 4 cases of basal cell carcinoma, 4 cases of squamous cell carcinoma, 1 case of junction nevus, 1 case of intradermal nevus, 1 case of seborrheic keratosis, and 1 case of keratoacanthoma. The size of defects ranged from 1.4 cm×1.2 cm to 5.5 cm×5.0 cm. According to the skin mobility and toughness around the defects, Pacman flaps with the size of 1.6 cm×1.4 cm to 10.0 cm×6.0 cm were designed and advanced to repair the defects.
RESULTS
All flaps survived completely with no necrosis. One patient had infection, and another patient had partial wound dehiscence, but the wounds healed after dressing change without further debridement. Other patients all recovered successfully. The follow-up time ranged from4 to 51 months, with a median time of 12 months. No recurrence and metastasis occurred, and the scars were invisible without deformity of eyelid and brow. All patients were satisfied with the aesthetic and functional outcomes of the eyes.
CONCLUSION
Pacman flap is a simple and feasible technique for repair of eyelid and periocular soft tissue defects, with satisfactory effectiveness.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Eyelids; Female; Humans; Male; Middle Aged; Perforator Flap; Plastic Surgery Procedures; Retrospective Studies; Skin Transplantation; Soft Tissue Injuries; Treatment Outcome; Young Adult
PubMed: 34779174
DOI: 10.7507/1002-1892.202106066