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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

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

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

Indian Dermatol Online J 2021 Mar-Apr;12(2):302-306. Epub 2021 Feb 22.

Department of Dermatology, Venereology and Leprosy, Government Medical College, Amritsar, Punjab, India.

Verrucous epidermal nevi (VEN) are cutaneous hamartomas characterized by keratinocytic hyperplasia. Majority are linear in distribution and tend to follow the Blaschko lines; however, some may have zosteriform (segmental) or systematized distribution involving widespread areas of skin. The systematized ones are further classified into "" when one-half of the body is affected, and "" showing bilateral distribution, both being the uncommon forms. Read More

Front Oncol 2021 13;11:658407. Epub 2021 Apr 13.

Eye Center, University Hospital Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

We describe a case of a 65-year old patient presenting with unusual mucocutaneous melanocytic proliferations of a Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP) imitating a multifocal melanoma in situ, which improved dramatically after plasmapheresis. The patient first presented at the dermatology department due to rapidly evolving brown and black macules on the glans penis. Further skin involvement of the perineal and perianal region, mamillae and oral mucosa was stated. Read More

In Vivo 2021 May-Jun;35(3):1583-1594

Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany

Background/aim: Proteus syndrome is a sporadic disease that is particularly noticeable due to the disproportional growth of body segments. The disease is a genetic mosaic. The mutations can arise from any of the germ layers, an explanation of the very variable phenotype. Read More

Ear Nose Throat J 2021 Apr 28:1455613211013078. Epub 2021 Apr 28.

Department of Oral and Maxillofacial Sciences, 9311Sapienza University of Rome, Roma, Italy.

Am J Case Rep 2021 Apr 22;22:e928670. Epub 2021 Apr 22.

School of Dentistry, Federal University of Pará (UFPA), Belém, PA, Brazil.

BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome (GGS), is an inherited autosomal dominant disorder caused by mutations in the patched (PTCH) tumor-suppressor gene, which has high penetrance and variable phenotypic expressivity. In 1960, Gorlin and Goltz defined the condition by 3 main characteristics: multiple basal cell carcinomas, odontogenic keratocyst (OKC), and skeletal anomalies. Nowadays, many neurologic, ophthalmic, endocrine, and genital manifestations are known to be associated with this syndrome. Read More

Int J Surg Case Rep 2021 May 10;82:105883. Epub 2021 Apr 10.

Department of Oral and Maxillofacial Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

Introduction: Neurofibromatosis is a disease that causes various abnormalities such as neurofibroma, mainly in the skin and nerves. The common sites in the oral cavity are the palate, gingiva, tongue, buccal mucosa, and lips but, occurrence in the mandible is rare.

Presentation Of Case: A 26-year-old woman was referred to our clinic because of percussion pain. Read More

Acta Dermatovenerol Croat 2020 Dec;28(7):245-246

Professor Uwe Wollina, MD, Department of Dermatology and Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Friedrichtstrasse 41, 01067 Dresden, Germany;

Dear Editor, Plexiform neurofibroma (PNF) is a particular subtype of benign nerve sheath tumors with a reticular growth pattern not respecting tissue borders and involving several nerve branches or fascicles. It is most commonly reported in patients with neurofibromatosis type-1 (NF-1) and represents in up to 30% of NF-1 patients (1,2). Other possible associations include schwannomatosis, multiple cutaneous schwannomas syndrome, and rarely neurofibromatosis type-2 (NF-2) (3). Read More

Hua Xi Kou Qiang Yi Xue Za Zhi 2021 Apr;39(2):230-232

Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper. Read More

Clin Oral Investig 2021 Jun 17;25(6):3351-3367. Epub 2021 Mar 17.

Department of Oral Medicine and Pathology, Faculty of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.

Objectives: To provide a systematic review of the literature on studies comparing the immunoprofile of nevoid basal cell carcinoma syndrome (BCNS)-associated and sporadic odontogenic keratocysts (OKCs), in order to identify markers that could accurately distinguish the two OKC subtypes.

Materials And Methods: We searched MEDLINE/Pubmed, Web of Science, EMBASE via OVID, and grey literature for publications until December 28th, 2019, that compared the immunohistochemical expression of the two OKC subtypes. The studies were qualitatively assessed using the Critical Appraisal Tool for Case Series (Joana Briggs Institute). Read More

Medicine (Baltimore) 2021 Mar;100(10):e25047

Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, West China Second University Hospital.

Rationale: Nevus sebaceous (NS) is a lesion caused by congenital hyperplastic disorder of the sebaceous glands. It commonly noted in the scalp and face and rarely in the trunk, neck, or oral mucosa. We present a rare case of a lesion arising in the genital region. Read More

Head Neck Pathol 2021 Mar 15;15(1):16-24. Epub 2021 Mar 15.

Department of Pathology, Texas Childrens Hospital, 6621 Fannin St, Houston, TX, 77030, USA.

Cancer predisposition syndromes (CPS) are generally heritable conditions that predispose individuals to develop cancer at a higher rate and younger age than their representative general population. They are a significant cause of cancer related morbidity and mortality in the pediatric population. Therefore, recognition of lesions that may be associated with a CPS and alerting the clinicians to its implications is a crucial task for a diagnostic pathologist. Read More

Clin Plast Surg 2021 Apr 29;48(2):341-347. Epub 2021 Jan 29.

Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

Indications for lower extremity reconstruction in children are unique because most result from congenital conditions (eg, constriction ring, lymphedema, syndactyly, nevi, vascular anomalies). Like adults, pediatric patients also suffer from effects following extirpation and trauma. Principles of reconstruction are based on the condition and type of deformity. Read More

J Dent Sci 2020 Dec 1;15(4):554-555. Epub 2020 Jun 1.

Department of Dentistry, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien City, Taiwan.

J Oral Maxillofac Pathol 2020 May-Aug;24(2):315-321. Epub 2020 Sep 9.

Department of Oral Pathology and Microbiology, RUHS College of Dental Sciences (Government Dental College and Hospital), Jaipur, Rajasthan, India.

Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin-Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with other reports in the Indian population. Read More

ARYA Atheroscler 2020 May;16(3):146-150

Associate Professor, Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Background: Carney complex (CNC) is an uncommon multisystem endocrine disorder with significant variability of clinical manifestations including mucocutaneous involvement (pigmented lesions, myxomas, blue nevi, etc.), endocrine tumors (adrenal, pituitary, thyroid glands, or testicles), and non-endocrine tumors [cardiac myxomas, psammomatous melanotic schwannomas (PMS), breast myxomas as well as ductal adenomas, and osteochondromyxomas]. To our knowledge, this is the second report of CNC in Iran, presenting with typical manifestations. Read More

Photodiagnosis Photodyn Ther 2021 Mar 8;33:102180. Epub 2021 Jan 8.

Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, 1278 Baode Road, Shanghai, 200443, People's Republic of China. Electronic address:

Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized by (a) capillary malformations, such as port-wine stain (PWS), and (b) pigmented lesions, such as pigmented trichoepidermal nevus, café-au-lait spots, and dermal melanocytosis with or without systemic damage. Severe pruritus has not previously been reported among PPV patients. Here, we report a pediatric case of PPV with severe pruritus, which was refractory to various long-term oral antiallergic agents and topical tacrolimus but was temporarily responsive to hematoporphyrin monomethyl ether-mediated photodynamic therapy (HMME-PDT). Read More

Plast Reconstr Surg Glob Open 2020 Dec 18;8(12):e3244. Epub 2020 Dec 18.

Department of Plastic and Oral Surgery, Boston Children's Hospital and Harvard Medical School, Boston, Mass.

Proper management of Spitz nevi continues to be debated, with treatment ranging from observation to surgery. To better characterize the outcome of surgical procedures performed for incomplete initial excision or biopsy, we sought to ascertain the histopathological presence of residual Spitz nevi in a set of surgical specimens.

Methods: We retrospectively reviewed 123 records with histologically-confirmed Spitz nevus. Read More

Am J Gastroenterol 2021 05;116(5):1044-1052

State Key Laboratory of Medical Molecular Biology, Department of Physiology, Institute of Basic Medical Sciences and School of Basic Medicine, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Introduction: Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic venous malformation (VM) disease. The characteristic gastrointestinal (GI) bleeding from multiple VM lesions causes severe chronic anemia which renders most patients depend on lifelong blood transfusion and frequent endoscopic treatment with dismayed outcomes. Although recent case reports suggest that oral sirolimus (rapamycin) is effective, a comprehensive evaluation of its efficacy and safety is in need. Read More

Plast Reconstr Surg 2021 01;147(1):25e-29e

From the Department of Plastic Surgery, 3D Lab Radboudumc, and the Department of Oral and Maxillofacial Surgery, Radboud University Medical Center.

Background: During a deep inferior epigastric perforator (DIEP) flap harvest, the identification and localization of the epigastric arteries and its perforators are crucial. Holographic augmented reality is an innovative technique that can be used to visualize this patient-specific anatomy extracted from a computed tomographic scan directly on the patient. This study describes an innovative workflow to achieve this. Read More

Lab Invest 2021 May 9;101(5):636-647. Epub 2020 Dec 9.

Department of Pathology, Program in Dermatopathology, Brigham and Women's Hospital, Boston, MA, USA.

Activating transcription factor 3 (ATF-3), a cyclic AMP-dependent transcription factor, has been shown to play a regulatory role in melanoma, although its function during tumor progression remains unclear. Here, we demonstrate that ATF-3 exhibits tumor suppressive function in melanoma. Specifically, ATF-3 nuclear expression was significantly diminished with melanoma progression from nevi to primary to metastatic patient melanomas, correlating low expression with poor prognosis. Read More

Case Rep Dermatol 2020 Sep-Dec;12(3):186-191. Epub 2020 Oct 30.

Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Hasan Sadikin General Hospital, Bandung, Indonesia.

Epidermal nevus syndromes are a group of rare multiorgan disorders. Schimmelpenning syndrome is a clinical variant of epidermal nevus syndromes. This congenital syndrome is characterized by the existence of nevus sebaceous and usually accompanied by abnormalities of the eyes, skeletal, cardiovascular, and central nervous systems. Read More

Indian Dermatol Online J 2020 Sep-Oct;11(5):738-746. Epub 2020 Sep 19.

Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.

Context: -related overgrowth syndrome (PROS) is characterized by focal and disproportionate growth of acral body structures in a mosaic pattern with varied phenotypes. Clinical diagnostic criteria are available and testing of the mutation is recommended for diagnosis. Cutaneous features described in these conditions include epidermal nevi and vascular malformations which form part of the diagnostic criteria. Read More

Actas Dermosifiliogr (Engl Ed) 2021 May 18;112(5):463-466. Epub 2020 Nov 18.

Servicio de Anatomía Patológica, Hospital Universitari Sagrat Cor, Barcelona, España.

Oral Oncol 2021 03 12;114:105053. Epub 2020 Nov 12.

Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil. Electronic address:

Hautarzt 2020 Dec;71(12):926-931

National Institute of Laser Enhanced Sciences (NILES), Cairo University, Giza, Ägypten.

Nevus of Ota, nevus of Ito and nevus of Hori are special melanocytic nevi that have a slate-brown or blue/grey coloring. They are pigmented disorders characterized by its heterotopic melanocytic dermal location and by blue/brown unilateral and sometimes bilateral facial patch in case of nevus of Ota, and in the supraclavicular, scapular, and deltoid region in case of nevus of Ito. It is more common in patients with Asian and dark-skinned ethnic backgrounds. Read More

Int J Mol Sci 2020 Oct 13;21(20). Epub 2020 Oct 13.

Department of Biochemistry, Tokyo Dental College, 2-9-18 Kandamisaki-cho Chiyoda-ku, Tokyo 101-0061, Japan.

Gorlin syndrome is a skeletal disorder caused by a gain of function mutation in Hedgehog (Hh) signaling. The Hh family comprises of many signaling mediators, which, through complex mechanisms, play several important roles in various stages of development. The Hh information pathway is essential for bone tissue development. Read More