Search Our Scientific Publications & Authors

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

Indian J Dermatol Venereol Leprol 2021 May 8. Epub 2021 May 8.

Department of Dermatology, James Paget University Hospital, Great Yarmouth, England.

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

J Dermatol 2021 Jun 9. Epub 2021 Jun 9.

Department of Pediatric Hematology-Oncology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

As one of the epidermal nevus syndromes, Schimmelpenning-Feuerstein-Mims (SFM) is characterized by craniofacial nevus sebaceous (NS) and extracutaneous abnormalities (e.g., brain, eyes, and bone). Read More

JAMA Dermatol 2021 Jun 9. Epub 2021 Jun 9.

Department of Dermatology, University of Pennsylvania Perelman School of Medicine, Philadelphia.

Importance: Although granuloma annulare (GA) has been associated with several other conditions, these studies have been limited by single-center designs and small sample sizes.

Objective: To evaluate whether there is an association between GA and type 2 diabetes, hyperlipidemia, autoimmune conditions, and hematologic malignant neoplasms, using a large population-based cohort study.

Design, Setting, And Participants: This retrospective cohort study conducted between January 1, 2016, and June 30, 2019, used deidentified data from the US Optum Clinformatics Data Mart Database. Read More

Andes Pediatr 2021 Apr;92(2):320

Santiago, Santiago, Chile.

Pediatr Dermatol 2021 Jun 8. Epub 2021 Jun 8.

Department of Dermatology, Uniformed Services University, Bethesda, MD, USA.

Background/objective: Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically confirmed Proteus syndrome.

Methods: We conducted a retrospective review of records from dermatologic examinations of individuals evaluated at the NIH with a molecular diagnosis of Proteus syndrome. 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

Dermatology 2021 Jun 7:1-6. Epub 2021 Jun 7.

First Department of Dermatology, School of Medicine, Faculty of Health Sciences, Aristotle University, Thessaloniki, Greece.

Background: Blue color in dermoscopy can be seen in a wide range of benign and malignant lesions, melanocytic or not. Some blue-colored dermoscopic criteria have been associated with specific tumors, such as blue-white veil with melanoma and homogeneous blue with blue nevi. However, when blue color occupies a large part of the lesion's surface, the dermoscopic assessment might be particularly challenging. Read More

Int J Paleopathol 2021 Jun 4;34:20-28. Epub 2021 Jun 4.

Department of Genetics, Instituto de Investigación Sanitaria, Hospital Universitario Fundación Jiménez Diaz, Avenida de los Reyes Católicos 2, 28040, Madrid, Spain. Electronic address:

Objective: To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition.

Materials: A patient referred to our Genetic Service with suspected Buschke Ollendorff Syndrome after finding a connective nevus.

Methods: Radiological images from different body regions were accompanied by a genetic study using next-generation sequencing. Read More

Cutis 2021 Apr;107(4):E56-E57

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania.

Front Pediatr 2021 20;9:678296. Epub 2021 May 20.

Department of Ophthalmology, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

This study aimed to figure out the association between ophthalmic and pathological features in patients with Linear Nevus Sebaceous Syndrome (LNSS) and in patients with Oculoectodermal Syndrome-Encephalocraniocutaneous Lipomatosis (OES-ECCL). It is a retrospective, non-consecutive, observational case series. Twenty-seven patients (12 with LNSS and 15 with OES-ECCL, 41 eyes) referred to the Department of Ophthalmology of the Shanghai Ninth People's Hospital between 2000 and 2020 were included. Read More

J Cutan Pathol 2021 Jun 4. Epub 2021 Jun 4.

Department of Surgery, Section of Ophthalmology, Geisel School of Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire.

Background: Many dermatopathologists find conjunctival melanocytic proliferations challenging because they are rare relative to their cutaneous counterparts and have nuanced morphology and nomenclature. PRAME immunohistochemistry has been widely adopted for distinguishing cutaneous nevi from melanoma, but limited data exist assessing its utility in evaluating conjunctival specimens. In particular, it is uncertain whether it can predict the risk of melanoma progression in primary acquired melanosis (PAM). Read More

J Cutan Pathol 2021 Jun 3. Epub 2021 Jun 3.

Department of Anatomic Pathology, University of California, San Francisco.

Background: BRCA1-associated protein (BAP1) is a tumor suppressor whose loss is associated with various malignancies. The primary cilium is an organelle involved in signal transduction and cell cycle progression. Primary cilia have been shown to be absent in melanoma but retained to some extent in melanocytic nevi, and the severity of dysplasia influences the degree of cilia loss. 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 Exp Dermatol 2021 Jun 3. Epub 2021 Jun 3.

Division of Dermatology, IRCCS di Policlinico Sant'Orsola, via Massarenti 9, 40138, Bologna, Italy.

A 59-year-old patient was referred to the Melanoma Unit for a dermatologic consultation due to the eruptive onset of multiple hyperpigmented nevi one-month after the beginning of their medical therapy with cetuximab for metastatic colorectal cancer. No other side-effects were reported, with the exception of a mild cutaneous xerosis. 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

Ann Dermatol 2021 Jun 4;33(3):293-294. Epub 2021 May 4.

Department of Dermatology, Hanyang University Hospital, Seoul, Korea.

JAMA Dermatol 2021 Jun 2. Epub 2021 Jun 2.

Peter MacCallum Cancer Centre, Melbourne, Australia.

Importance: Spitz nevi are benign melanocytic neoplasms that classically present in childhood. Isolated Spitz nevi have been associated with oncogenic gene fusions in approximately 50% of cases. The rare agminated variant of Spitz nevi, thought to arise from cutaneous genetic mosaicism, is characterized by development of clusters of multiple lesions in a segmental distribution, which can complicate surgical removal. Read More

Int J Mol Sci 2021 May 17;22(10). Epub 2021 May 17.

Hautklinik, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany.

The melanin fluorescence emitted by pigment cells of the human skin has been a central research topic for decades, because melanin, on the one hand, protects against (solar) radiation in the near-UV range, whereas on the other hand, melanocytes are the starting point for the malignant transformation into melanoma. Until recently, however, melanin fluorescence was not accessible in the context of conventional spectroscopy, because it is ultraweak and is overshadowed by the more intense so-called autofluorescence of endogenous fluorophores. The advent of a new method of laser spectroscopy has made this melanin fluorescence measurable in vivo. Read More

Diagnostics (Basel) 2021 May 22;11(6). Epub 2021 May 22.

The Modelling & Simulation Laboratory, Dunarea de Jos University of Galati, 47 Domneasca Str., 800008 Galati, Romania.

In the automatic detection framework, there have been many attempts to develop models for real-time melanoma detection. To effectively discriminate benign and malign skin lesions, this work investigates sixty different architectures of the Feedforward Back Propagation Network (FFBPN), based on shape asymmetry for an optimal structural design that includes both the hidden neuron number and the input data selection. The reason for the choice of shape asymmetry was based on the 5-10% disagreement between dermatologists regarding the efficacy of asymmetry in the diagnosis of malignant melanoma. Read More

Cancers (Basel) 2021 May 7;13(9). Epub 2021 May 7.

Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA.

is the most common gene mutated in malignant melanoma, and predominately it is a missense mutation of codon 600 in the kinase domain. This oncogenic missense mutation results in constitutive activation of the mitogen-activate protein kinase (MAPK) pro-survival pathway. Several BRAF inhibitors (BRAFi) have been developed to specifically inhibit mutations that improve melanoma survival, but resistance and secondary cancer often occur. Read More

Pediatr Rep 2021 May 1;13(2):203-209. Epub 2021 May 1.

Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, China.

Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. Read More

Oral Dis 2021 Jun 1. Epub 2021 Jun 1.

Department of Maxillo-Facial and Oral Surgery, Faculty of Dentistry and WHO Collaborating Centre, University of the Western Cape, Bellville, South Africa.

The aim of this study was to identify all clinical, radiological, histopathological, and immunohistochemical features associated with recurrence of odontogenic keratocysts (OKCs) in the literature and formulate a recurrence risk stratification based on these findings. A search was performed in PubMed/Medline, Scopus, Web of Science, Google Scholar and Cochrane databases for clinical and laboratory studies reporting on clinico-pathological features that led to OKC recurrences for the period 2000 to 2020. Twenty-three studies were identified and analyzed qualitatively. Read More

Skin Pharmacol Physiol 2021 May 31:1-10. Epub 2021 May 31.

Berlin Institute of Health, Department of Dermatology and Allergy, Charité, Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Clinical Research Center for Hair and Skin Science, Berlin, Germany.

Background And Objectives: Gene mutations within the leptin-melanocortin signaling pathway lead to severe early-onset obesity. Recently, a phase 2 trial evaluated new pharmacological treatment options with the MC4R agonist setmelanotide in patients with mutations in the genes encoding proopiomelanocortin (POMC) and leptin receptor (LEPR). During treatment with setmelanotide, changes in skin pigmentation were observed, probably due to off-target effects on the closely related melanocortin 1 receptor (MC1R). Read More

Comput Methods Programs Biomed 2021 May 19;207:106174. Epub 2021 May 19.

School of Informatics, Xiamen University, Xiamen 361005, China. Electronic address:

Objective: Melanoma is a type of malignant skin cancer with high mortality, and its incidence is increasing rapidly in recent years. At present, the best treatment is surgical resection after early diagnosis. However, due to the high visual similarity between melanoma and benign melanocytic nevus, coupled with the scarcity and imbalance of data, traditional methods are difficult to achieve good recognition and detection results. Read More

J Dermatolog Treat 2021 May 31:1-22. Epub 2021 May 31.

Hacettepe University, Cancer Institute, Department of Basic Oncology, 06100, Ankara, Turkey.

Background: Alopecia areata (AA) is an autoimmune disease where autoimmune dysregulations along with genetic susceptibility are hypothesized to play a role in pathogenesis.

Objective: The aim of this study in to evaluate HLA-A, HLA-B, HLA-C, HLA-DQB1 and HLA-DRB1 profile and its relationship with clinical features in AA patients.

Materials And Methods: Ninety-eight patients with AA and 100 healthy controls were included in the study. Read More