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JAAD Case Reports Oct 2023
PubMed: 37766734
DOI: 10.1016/j.jdcr.2023.08.014 -
Journal of the European Academy of... Jan 2024In vivo reflectance confocal microscopy (RCM) enables the study of architectural and cytological aspects in horizontal sections, which closely correlate with histologic...
BACKGROUND
In vivo reflectance confocal microscopy (RCM) enables the study of architectural and cytological aspects in horizontal sections, which closely correlate with histologic features. However, traditional histopathological vertical sections cannot totally reproduce the image of the in vivo RCM horizontal section.
OBJECTIVE
To evaluate the concordance between in vivo RCM and histopathologic transverse sections for melanocytic lesions, basal cell carcinoma and seborrheic keratoses.
METHODS
Prospectively collected benign melanocytic and non-melanocytic tumours diagnosed by dermoscopy were evaluated for common RCM features and compared to histopathology in horizontal sections with haematoxylin and eosin staining.
RESULTS
A total of 44 skin tumours including 19 melanocytic lesions (nine compound, five junctional and five intradermal nevi), 12 basal cell carcinomas and 13 seborrheic keratoses were collected in the Department of Dermatology of Hospital Clinic of Barcelona. The RCM features that had statistically significant agreement with the histopathological horizontal sections were the preserved and visible honeycomb pattern, well defined DEJ, small bright particles, dermal nests, tumour islands and dark silhouettes, clefting, collagen bundles, thickened collagen bundles and cytologic atypia.
CONCLUSIONS
Histopathology evaluation of horizontal sections of skin tumours can be correlated with main RCM findings. The results of this study have improved the understanding and interpretation of RCM features in relation to skin tumours, thus reinforcing the utility of RCM as a diagnostic tool.
Topics: Humans; Melanoma; Keratosis, Seborrheic; Nevus, Pigmented; Dermoscopy; Microscopy, Confocal; Skin Neoplasms; Carcinoma, Basal Cell; Collagen
PubMed: 37669864
DOI: 10.1111/jdv.19491 -
Pigment Cell & Melanoma Research Jan 2024MITF E318K moderates melanoma risk. Only five MITF E318K homozygous cases have been reported to date, one in association with melanoma. This novel report uses 3D...
MITF E318K moderates melanoma risk. Only five MITF E318K homozygous cases have been reported to date, one in association with melanoma. This novel report uses 3D total-body-photography (TBP) to describe the dermatological phenotype of a homozygous MITF E318K individual. The case, a 32-year-old male, was diagnosed with his first of six primary melanomas at 26 years of age. Five melanomas were located on the back and one in the groin. Two were superficial spreading. Three arose from pre-existing naevi and one was a rare naevoid melanoma. 3D-TBP revealed a high naevus count (n = 162) with pigmentation varying from light to dark. Most naevi generally (n = 90), and large (>5 mm diameter) and clinically atypical naevi specifically were located on the back where sun damage was mild. In contrast, naevi count was low (n = 25 total) on the head/neck and lower limbs where sun damage was severe. Thus, melanoma location correlated with naevi density, rather than degree of sun damage. In addition to the MITF E318K homozygosity, there was heterozygosity for four other moderate-risk variants, which may contribute to melanoma risk. Further research is warranted to explore whether melanomas in E318K heterozygous and other homozygotes coincide with regions of high naevi density as opposed to sun damage. This could inform future melanoma screening/surveillance.
Topics: Male; Humans; Adult; Melanoma; Homozygote; Skin Neoplasms; Nevus; Neoplasms, Multiple Primary; Microphthalmia-Associated Transcription Factor
PubMed: 37635363
DOI: 10.1111/pcmr.13122 -
Die Ophthalmologie Aug 2023The spectrum of conjunctival tumors in children and adolescents significantly differs from that of adults.
BACKGROUND
The spectrum of conjunctival tumors in children and adolescents significantly differs from that of adults.
OBJECTIVE
The aim of this study was to show the distribution of histopathological diagnoses of pediatric conjunctival tumors.
MATERIAL AND METHODS
Retrospective case series including all conjunctival tumors of children and adolescents under 18 years of age examined histologically over a period of 25 years (1990-2015) at the Eye Center in Freiburg, Germany.
RESULTS
Among the 262 conjunctival specimens, the most common diagnoses were conjunctival nevi (148, [56%]), most often with junctional activity (106/148, [72%]), pyogenic granulomas (26, [10%]), and dermolipomas (18, [7%]). In one case a malignant tumor (conjunctival melanoma) was detected (1, < 1%).
CONCLUSION
The results suggest that pediatric conjunctival tumors are benign in most cases. Most of them were of melanocytic origin, with a junctional conjunctival nevus being the most common diagnosis.
Topics: Adult; Adolescent; Humans; Child; Conjunctival Neoplasms; Retrospective Studies; Nevus, Pigmented; Melanoma; Skin Neoplasms
PubMed: 37493685
DOI: 10.1007/s00347-023-01896-4 -
Modern Pathology : An Official Journal... Nov 2023Fusion genes involving homologs of protein kinase C (PKC) have been identified in a variety of tumors. We report the clinical and histologic presentation of 51 cutaneous...
Fusion genes involving homologs of protein kinase C (PKC) have been identified in a variety of tumors. We report the clinical and histologic presentation of 51 cutaneous melanocytic neoplasms with a PKC fusion gene (involving PRKCA in 35 cases, PRKCB in 15 cases, and PRKCG in a single case). Most tumors were in young adults (median age, 29.5 years; range, 1-73 years) but some presented in newborns. Histologically, 42 tumors were classified as benign, presenting predominantly as biphasic dermal proliferation (88%) with nests of small melanocytes surrounded by fibrosis with haphazardly arranged spindled and dendritic melanocytes, resembling those reported as "combined blue nevi." Most tumors (60%) were heavily pigmented and in 15%, hyperpigmented epithelioid melanocytes were present at the dermoepidermal junction. Two lesions were paucicellular and showed marked sclerosis. Three tumors, including 2 proliferating nodules, were considered intermediate grade. Six tumors had sheets of atypical melanocytes infiltrating the dermis and were classified as melanomas. Two of the melanomas displayed loss of BAP1 nuclear expression. The median follow-up time was 12 months, with 1 patient alive with metastatic disease and 1 dying of their melanoma. These results suggest that melanocytic tumors with PKC fusion genes have characteristic histopathologic features, which are more similar to blue nevi than to pigmented epithelioid melanocytomas. As is the case with GNA-mutated blue nevi, they can progress to melanomas via BAP1 inactivation and metastasize.
Topics: Infant, Newborn; Young Adult; Humans; Adult; Nevus, Blue; Biomarkers, Tumor; Melanoma; Skin Neoplasms; Protein Kinase C
PubMed: 37474004
DOI: 10.1016/j.modpat.2023.100286 -
Orbit (Amsterdam, Netherlands) Feb 2024Acquired melanocytic nevi are common eyelid lesions; however, their clinical presentation is not well documented.
PURPOSE
Acquired melanocytic nevi are common eyelid lesions; however, their clinical presentation is not well documented.
METHODS
In this retrospective study, clinical records were reviewed in patients evaluated between 2005 and 2022.
RESULTS
Eyelid margin nevi ( = 150) were more commonly excised in female (78%) and Caucasian (86%) patients. Change in appearance/size were frequent presenting complaints, and 17% experienced ocular symptoms. Referring diagnosis included other benign lesions (11.3%), and concern for malignancy (16.7%). Many individuals (38.7%) noted their lesion for ≤5 years. Nevi were distributed across the 4 margins (9% peripunctal), and 88% had a regular base. Visible pigmentation was more common in non-Caucasians (95.2%) than Caucasians (41.1%). Lashes grew through 60.7% of nevi and were often misdirected.Nevi were treated with superficial excision and cauterization. Histologic subtypes included: dermal (86.6%), compound (9.4%), blue (2.7%), junctional (0.7%), lentiginous dysplastic (0.7%). An irregular base (=0.042) and pigmentation (=0.056) were more common in compound than dermal nevi. Lash line quality and appearance were improved in the majority of patients returning for follow-up, although postoperative trichiasis, marginal erythema, and residual pigmentation were observed.
CONCLUSIONS
Melanocytic nevi commonly involve the eyelid margins and have a variety of presentations and appearances. Existing nevi can change, and new lesions appear throughout adulthood. Stable, benign appearing nevi can be observed. Shave excision provides a diagnosis and improved appearance for symptomatic or suspicious lesions, with few serious complications. Malignant transformation is rare, although evidence for recurrence warrants further evaluation.
Topics: Humans; Female; Adult; Retrospective Studies; Nevus; Nevus, Pigmented; Eyelid Neoplasms; Eyelids; Skin Neoplasms
PubMed: 36688501
DOI: 10.1080/01676830.2023.2169717