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Oxf Med Case Reports 2021 Jun 18;2021(6):omab040. Epub 2021 Jun 18.

Professor of Neonatology, Department of Pediatrics, Tishreen University Hospital, Lattakia, Syria.

Genet Med 2021 Jun 18. Epub 2021 Jun 18.

Department of Twin Research and Genetic Epidemiology, King's College London, South Wing Block D, London, UK.

Purpose: Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.

Methods: Whole-genome copy-number findings in patients with melanoma predisposition syndrome congenital melanocytic nevus were extrapolated to a sporadic melanoma cohort. Read More

J Ayub Med Coll Abbottabad 2021 Apr-Jun;33(2):347-348

Department of Medicine, Ayub Medical College, Abbottabad, Pakistan.

Becker's nevus is a main epidermal hypermelanotic condition that usually presents in adolescence, though childhood cases are seen less commonly. Congenital cases have been rarely reported. Nevus is usually unilateral having increased pigmentation and is characterized by hypertrichosis. Read More

J Cosmet Dermatol 2021 Jun 11. Epub 2021 Jun 11.

Sultan Abdulhamid Han Education and Training Hospital Department of Plastic Reconstructive and Aesthetic Surgery.

Introduction: Cicatricial eyebrow loss that occurs after trauma or burns considerably reduces a person's self-confidence. Several methods, either surgical or nonsurgical, have been defined to reconstruct eyebrows. This study focused on eyebrow restoration using the atraumatic follicular unit extraction (FUE) technique in patients and emphasized certain details that should be considered during the treatment process. Read More

Am J Med Genet A 2021 Jun 11. Epub 2021 Jun 11.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Oncogenic RAS variants lead to constitutive overactivation and increased signal transduction into downstream pathways. They are found as somatic driver events in various types of human cancer. In a somatic mosaic status, the same RAS variants have been associated with a wide spectrum of focal or segmental tissue dysplasia and overgrowth including various types of congenital nevi, vascular malformations, and other changes (mosaic RASopathies). Read More

Orphanet J Rare Dis 2021 Jun 10;16(1):267. Epub 2021 Jun 10.

Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), bte B1.74.06, 1200, Brussels, Belgium.

Background: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)]. Read More

Plast Reconstr Surg Glob Open 2021 Jun 7;9(6):e3613. Epub 2021 Jun 7.

Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto, Japan.

Surgical excision of a giant congenital melanocytic nevus (GCMN) results in a full-thickness skin defect that is usually difficult to reconstruct even with tissue expansion or skin grafting. Here, we report the first case of GCMN treated with a combination of cultured epithelial autografts (CEAs) and mesh-skin grafts to reconstruct a large skin defect after surgical excision. A 14-month-old girl had a GCMN occupying 20% of the total body surface area of her neck and back. Read More

J Lasers Med Sci 2021 14;12:e5. Epub 2021 Feb 14.

Clinic of Aesthetic Medicine. Head of the Laser Department of the Health Institute, Kharkiv, 61000, Ukraine.

Congenital melanocytic nevus (CMN) is a severe challenge for dermatology. This pigmented skin lesion is undesirable for patients because of its localization in open areas of the body. Various visible and near-infrared laser systems and intense pulsed light (IPL) sources have been applied for CMN treatment. Read More

J Indian Assoc Pediatr Surg 2021 Mar-Apr;26(2):133-135. Epub 2021 Mar 4.

Department of Pediatric Surgery, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Congenital melanocytic nevus is deposition of pigment producing cells of melanocytic lineage in the dermis. We present an extremely rare case of congenital melanocytic nevus with a scrotal mass associated with deposition of melanin in the brain. The mass may mimic like a testicular tumour on clinical presentation. Read More

Mol Imaging Radionucl Ther 2021 06;30(2):119-121

Başkent University Faculty of Medicine, Department of Nuclear Medicine, Ankara, Turkey

Childhood malignant melanoma (MM) is extremely uncommon. We report an unusual case of cutaneous melanoma that developed from a medium-sized congenital melanocytic nevus (CMN) in a two-year-old girl. The patient had a history of CMN on the right hip, and she presented with a new ulcerative area with irregular borders and bleeding on CMN. Read More

Clin Cosmet Investig Dermatol 2021 26;14:557-559. Epub 2021 May 26.

Department of Obstetrics and Gynecology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, People's Republic of China.

Giant congenital melanocytic nevus (GCMN) is a rare birthmark disorder that reportedly affects 1 in 20,000-500,000 live births. Here, we present a case of GCMN in a 1-day-old newborn that covered the entire abdomen, reaching the thigh and chest, and laterally toward the backward aspect of the trunk to involve the entire back and buttocks. We discuss the diagnostic and treatment approach. Read More

Melanoma Res 2021 May 28. Epub 2021 May 28.

Department of Pathology, School of Medicine, University of Pittsburgh, Pennsylvania Section of Plastic and Reconstructive Surgery, University of Chicago Medicine, Chicago, Illinois Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Large/giant congenital nevi (L/GCMN) are benign neoplasms of the melanocytic neural crest lineage covering extensive areas of skin presenting risk for melanoma. Surgical resection often leads to scarring and trauma. Histone deacetylase inhibitors (iHDACs) as topical therapeutic agents may prove beneficial as an alternative/adjunct to surgery in this disease. Read More

J Eur Acad Dermatol Venereol 2021 May 29. Epub 2021 May 29.

Nirvan Skin Clinic, Vadodara, India.

Curr Med Imaging 2021 05 26. Epub 2021 May 26.

Department of Biomedical and Dental Sciences and of Morphofunctional Imaging, University of Messina, Italy.

Background: Neurocutaneous melanosis (NCM) is a rare nonfamilial phakomatosis characterized by the presence of congenital melanocytic nevi and abnormal melanocytes infiltration of the leptomeninges.

Objective & Methods: This paper shows the importance of early diagnosis and the most important imaging features of the disease on CT and MR scans. PubMed database was searched from January 1972 to September 2020. Read More

Clin Case Rep 2021 May 5;9(5):e03807. Epub 2021 May 5.

School of Medicine Isfahan University of Medical Sciences Isfahan Iran.

Giant melanocytic nevus is a rare condition caused by benign proliferation of melanocytes. There is a slight risk of malignancy in these lesions which should be noticed especially when they become larger. GCMN can be removed by plastic surgery. Read More

Int J Dermatol 2021 May 21. Epub 2021 May 21.

Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

Background: Partial unilateral lentiginosis (PUL) is a rare acquired circumscribed hyperpigmentation characterized by multiple simple lentigines involving half of the body. Since the previous studies of PUL were mostly based on case reports and the current literature lacks well-designed retrospective studies that involve a large number of cases, PUL is not a well-defined entity, and differential diagnosis with nevus spilus is still difficult. This study aims to evaluate clinical and histopathological characteristics and treatment outcomes of PUL on head and neck area of Koreans. Read More

J Dermatol 2021 May 17. Epub 2021 May 17.

Section of Dermatology, DiSSal, San Martino Polyclinic Hospital IRCCS, University of Genova, Genova, Italy.

We present the case of a 92-year-old woman, with bullous pemphigoid (BP) and a concomitant nevus comedonicus (NC) presenting as an asymptomatic, linear lesion of the entire lower left limb, formed by multiple comedones. Dermoscopy of the NC and histopathology confirmed the clinical and dermoscopic suspect of giant congenital nevus comedonicus. The two entities presented no overlap. Read More

Ital J Dermatol Venerol 2021 05 13. Epub 2021 May 13.

Institute of Dermatology, Università Cattolica, Rome, Italy.

Ital J Dermatol Venerol 2021 May 13. Epub 2021 May 13.

Department of Biomedical Sciences, School of Health Sciences, Alexandrian Campus, International Hellenic University, Thessaloniki, Greece -

Despite the rapid recent advances in molecular analysis of tumors, which allow large-scale and high-resolution genomics, the "gold standard" for melanoma diagnosis continues to be histopathology, in conjunction with clinical characteristics and sometimes with important support of immunohistochemistry. Observations, where postulated that cutaneous melanomas may arise through two distinct pathways, discoveries such as that BRAFV600E mutations were mostly common in melanomas on sun-exposed skin with little solar elastosis and seminal works for melanoma progression and evolution set the groundwork for the new WHO Classification of Melanoma; a classification of melanoma that not only encompasses histologic but also clinical, epidemiologic, and genetic characteristics. The melanomas were divided into those etiologically related to sun exposure and those that are not, based on their mutational signatures, anatomic site, and epidemiology. Read More

Br J Dermatol 2021 May 6. Epub 2021 May 6.

Department of Dermatology, Amsterdam Public Health, Amsterdam University Medical Center, location Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands.

Background: Congenital melanocytic naevi (CMN) can have a great impact on patients' lives due to perceived stigmatization and the risk of melanoma development and neurological complications. Development of a core outcome set for care and research of CMN will allow standard reporting of outcomes. This will enable comparison of outcomes, allowing professionals to offer advice about best management options. Read More

Acta Derm Venereol 2021 Jun 2;101(6):adv00470. Epub 2021 Jun 2.

Dermatology Department, Melanoma Group IDIBAPS, Hospital Clinic Barcelona - University of Barcelona, Villarroel 170, ES-08036 Barcelona, Spain.

Surgical attempts to remove large/giant congenital melanocytic naevi (LGCMN) are supported mainly by the theoretical improvement in patients' self-image; however such surgery can result in unaesthetic scarring. We hypothesize that difference in appearance itself has an impact, and hence surgery cannot negate this impact. The aim of this cross-sectional study was to explore how LGCMN and scarring are perceived by non-affected people. Read More

JAAD Case Rep 2021 May 27;11:117-119. Epub 2021 Mar 27.

Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy.

J Surg Case Rep 2021 Apr 19;2021(4):rjab122. Epub 2021 Apr 19.

College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

CLOVES syndrome is a condition characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi and skeletal anomalies. The association of cervical arteriovenous fistula with CLOVES syndrome is extremely rare. To the best of our knowledge, only two cases were reported in the literature. Read More

Cancers (Basel) 2021 Apr 1;13(7). Epub 2021 Apr 1.

Department of Otorhinolaryngology, Head and Neck Surgery, Saarland University Medical Center, D-66421 Homburg, Germany.

oncogene located at chromosomal region 3q26 encodes for a transmembrane protein of the endoplasmic reticulum (ER) and is expressed at high levels in numerous human malignancies. overexpression has been associated with worse prognosis and high risk for lymphatic and distant metastases in head and neck cancer, cervical cancer, hepatocellular cancer, and lung cancer. However, its role in the development and tumor biology of melanocytic lesions has not been investigated so far. Read More

J Dermatol 2021 Apr 27. Epub 2021 Apr 27.

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

A sebaceous nevus is a congenital skin hamartoma caused by postzygotic HRAS or KRAS mosaic mutations. With age, affected individuals may develop secondary tumors within a sebaceous nevus. RAS mutations are harbored from the onset of sebaceous nevus, and further mutations can be expected to be required in order to explain the initiation of secondary tumors. Read More

Pigment Cell Melanoma Res 2021 Apr 21. Epub 2021 Apr 21.

Department of Dermatology, Oregon Health and Science University, Portland, OR, USA.

Here, we present a rare case of a patient who developed multiple primary melanomas within the boundaries of two nevi depigmentosa. The melanomas were excised, and as a preventive measure, the remainder of the nevi depigmentosa were removed. We performed whole-exome sequencing on excised tissue from the nevus depigmentosus, adjacent normal skin, and saliva to explain this intriguing phenomenon. Read More

Indian J Dermatol Venereol Leprol 2021 May-Jun;87(3):416-420

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Indian J Pathol Microbiol 2021 Apr-Jun;64(2):402-405

Department of Molecular Genetics, Tata Medical Center, Kolkata, West Bengal, India.

Pediatric melanomas are uncommon and sometimes arise in the background of giant congenital melanocytic nevus (GCMN). A 1-year-old girl was born with GCMN affecting her left half of the face and smaller nodules affecting trunk, hands, and feet. She developed an ulcerated lesion on the left temporoparietal scalp. Read More

Acta Dermatovenerol Croat 2020 Dec;28(7):236-237

Prof. Luca Roncati, MD, DMLS, PhD , Polyclinic Hospital, Largo del Pozzo 71 - 41124 , Modena (MO), Italy;

Malignant melanoma (M) can be defined, quite simply, as a malignant neoplasm derived from melanocytes; however, there is great histological and, consequently, clinical variability from case to case (1). In order to try to overcome this intrinsic difficulty, various classification systems have been proposed over the years; as part of this effort, the World Health Organization (WHO) introduced its famous classification about half a century ago (2). Currently, the International Classification of Diseases for Oncology (ICD-O), provided by the WHO International Agency for Research on Cancer (IARC), distinguishes the in situ forms from invasive ones, recognizing four main morphological subtypes: nodular M, superficial spreading M, lentigo maligna M, and acral lentiginous M (3). Read More

Ann Otol Rhinol Laryngol 2021 Apr 3:34894211007236. Epub 2021 Apr 3.

Department of Plastic Surgery, University of Kansas Medical Center, Kansas City, KS, USA.

Objectives: Cerebriform intradermal nevus and giant congenital blue nevi are rarely reported melanocytic nevi with clinical and histopathologic similarities. Both are known to produce cutis verticis gyrata. We report a significantly large occipital scalp congenital blue nevus with secondary cutis verticis gyrata. Read More