Cancer Prev Res (Phila) 2018 Apr 24. Epub 2018 Apr 24.

Division of Hematology/Oncology, University of Pittsburgh School of Medicine

Broccoli sprout extract containing sulforaphane (BSE-SFN) has been shown to inhibit ultraviolet radiation-induced damage and tumor progression in skin. This study evaluated the toxicity and potential effects of oral BSE-SFN at three dosages. Seventeen patients who each had at least 2 atypical nevi and a prior history of melanoma were randomly allocated to 50, 100, or 200 µmol oral BSE-SFN daily for 28 days. Read More

Pediatr Dermatol 2018 Mar 24. Epub 2018 Mar 24.

Department of Pathology and Oral Medicine, School of Dentistry, Oral Medicine Clinic, Universidad de Chile, Santiago, Chile.

Background: A variety of local and systemic processes caused exogenous and endogenous pigmentation of the oral mucosa. Solitary melanotic pigmentation is rare, hence the scarce number of studies in children and adolescents.

Methods: Clinical and histopathologic features of 10 Latin American children with solitary pigmented lesions of the oral mucosa were reviewed. Read More

Am J Ophthalmol Case Rep 2018 Jun 8;10:101-104. Epub 2018 Feb 8.

Department of Ophthalmology, Chang Gung Memorial Hospital Linkou Branch, Taoyuan Taiwan, ROC.

Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by facial cutaneous venous dilatation (port-wine stain), leptomeningeal angioma, and ocular abnormalities. Here we report a case of SWS who experienced acute primary angle-closure in the same side of the nevus flammeus.

Observations: A 64-years-old female patient with SWS port wine stain on the left side of her face was referred to our ER for acute primary angle-closure (PAC). Read More

Am J Surg Pathol 2018 Mar 13. Epub 2018 Mar 13.

Department of Pathology, Western General Hospital and The University of Edinburgh, Edinburgh, UK.

Spitz nevi on acral sites are rare and poorly documented. The combination of Spitzoid cytomorphology and atypical architectural features of the junctional component may lead to an erroneous diagnosis of melanoma. To study the clinicopthologic and immunohistochemical features, 50 Spitz nevi localized on the distal extremities were retrieved from departmental files. Read More

Oral Oncol 2018 Apr 28;79:83. Epub 2018 Feb 28.

Department of Oral Pathology and Microbiology, Sathyabama University Dental College and Hospital, Chennai, India. Electronic address:

Med Oral Patol Oral Cir Bucal 2018 Mar 1;23(2):e144-e150. Epub 2018 Mar 1.

Istanbul University, Faculty of Dentistry, Department of Oral Surgery, 34093 Capa, Istanbul, Turkey,

Background: Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Read More

Pathophysiology 2018 Jan 31. Epub 2018 Jan 31.

Department of Oral and Maxillofacial/Head and Neck Surgery, Louisiana State University Health Sciences Center, Shreveport, LA, United States; Chancellor and Dean, Louisiana State University Health Sciences Center, Shreveport, LA, United States.

In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. Read More

Int Dent J 2018 Jan 28. Epub 2018 Jan 28.

Department of Pathology, Faculty of Medicine, Chulalongkorn University, Pathumwan, Bangkok, Thailand.

Objectives: To determine whether the spectrum of oral pathology in children seen at a medical institution differs from studies derived from dental facilities.

Methods: Oral biopsy records from paediatric patients (<16 years of age) were retrieved from the pathology archives at Chulalongkorn University Hospital over a period of 15 years. Lesions were categorised as inflammatory/reactive, tumour/tumour-like or cystic. Read More

Int J Dermatol 2018 Jan 29. Epub 2018 Jan 29.

Division of Clinical Dermatology, Mayo Clinic, Rochester, MN, USA.

Understanding the effects of age on the epidemiology of diseases primarily affecting the skin is important to the practice of dermatology, both for proper allocation of resources and for optimal patient-centered care. To fully appreciate the effect that age may have on the population-based calculations of incidence of diseases primarily affecting the skin in Olmsted County, Minnesota, and worldwide, we performed a review of all relevant Rochester Epidemiology Project-published data and compared them to similar reports in the worldwide English literature. Using the Rochester Epidemiology Project, population-based epidemiologic studies have been performed to estimate the incidence of specific skin diseases over the past 50 years. Read More

Head Neck Pathol 2018 Jan 16. Epub 2018 Jan 16.

Oral and Maxillofacial Pathology, University of Florida College of Dentistry, 1395 Center Drive, Room D8-6, Gainesville, FL, 32610, USA.

Skin lesions are often submitted to oral and maxillofacial pathology practices. The purpose of this study is to evaluate the frequency, distribution, variability, and composition of dermatologic lesions within a large oral and maxillofacial pathology biopsy service. An IRB-approved retrospective search of skin lesions diagnosed at University of Florida oral and maxillofacial pathology biopsy service between 1994 and 2015 was performed. Read More

Braz Oral Res 2017 Dec 18;31:e98. Epub 2017 Dec 18.

Universidade de São Paulo - USP, School of Dentistry, Department of Oral & Maxillofacial Surgery, Traumatology and Prosthesis, São Paulo, SP, Brazil.

The odontogenic keratocyst (OKC) is a recurrent cyst that has been recently reclassified from an odontogenic tumor to an odontogenic cyst. The aim of the present study was to investigate its treatment and address issues related to its association with nevoid basal cell carcinoma syndrome (NBCCS). Lesions from the cohort of patients included in the present study consisted of 40 OKCs, of which 27 lesions were treated by enucleation (GE) and 13 underwent decompression (GD). Read More

Dermatol Pract Concept 2017 Oct 31;7(4):13-16. Epub 2017 Oct 31.

Dermatology Service, Memorial Sloan Kettering Cancer Center, Hauppauge, NY, USA.

The majority of oral pigmentations are benign lesions such as nevi, melanotic macules, melanoacanthomas or amalgam tattoos. Conversely, mucosal melanomas are rare but often lethal; therefore, excluding oral melanomas in this setting is crucial. Reflectance confocal microscopy is a non-invasive, in vivo imaging system with cellular resolution that has been used to distinguish benign from malignant pigmented lesions in the skin, and more recently in the mucosa. Read More

PLoS One 2017 31;12(10):e0186879. Epub 2017 Oct 31.

Department of Biochemistry, Tokyo Dental College, Tokyo, Japan.

Gorlin syndrome is an autosomal dominant inherited syndrome that predisposes a patient to the formation of basal cell carcinomas, odontogenic keratocysts, and skeletal anomalies. Causative mutations in several genes associated with the sonic hedgehog (SHH) signaling pathway, including PTCH1, have been identified in Gorlin syndrome patients. However, no definitive genotype-phenotype correlations are evident in these patients, and their clinical presentation varies greatly, often leading to delayed diagnosis and treatment. Read More

Eur J Cancer 2017 11 5;86:334-348. Epub 2017 Nov 5.

Department of Oncology-Pathology, Karolinska University Hospital, Hospital Solma, 171 76, Stockholm, Sweden. Electronic address:

Background: The SafeTy Events in VIsmodEgib study (STEVIE, ClinicalTrials.gov, NCT01367665), assessed safety and efficacy of vismodegib-a first-in-class Hedgehog pathway inhibitor demonstrating clinical benefit in advanced basal cell carcinoma (BCC)-in a patient population representative of clinical practice. Primary analysis data are presented. Read More

J Oral Pathol Med 2018 Feb 1;47(2):152-157. Epub 2017 Nov 1.

Department of Oral Medicine and Pathology, Institute of Odontology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Background: White sponge nevus is a rare autosomal dominant disorder that affects the non-keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa-specific keratin-4 and keratin-13 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin-4 and keratin-13 in two Swedish families with white sponge nevus. Read More

Int J Oncol 2017 Dec 9;51(6):1731-1738. Epub 2017 Oct 9.

Department of Genetics, Hyogo College of Medicine, Nishinomiya, Hyogo 663-8501, Japan.

Keratocystic odontogenic tumor (KCOT) is a benign tumor often associated with basal cell nevus syndrome (BCNS). Mutations in Patched 1 (PTCH1), the Hedgehog (Hh) receptor, are responsible for BCNS. BCNS is distinguished by morphological anomalies and predisposition to benign and malignant tumors, including medulloblastoma, basal cell carcinoma, KCOT and ovarian fibromas. Read More

Acta Med Iran 2017 Aug;55(8):533-535

Department of Dermatology, Psoriasis Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.

White sponge nevus is a rare benign autosomal dominant disorder with variable penetrance. It is characterized by asymptomatic white plaques affecting mainly the oral mucosa. Careful clinical and histopathological examination is indicated to exclude other more serious conditions presenting as oral white lesions. Read More

Postepy Dermatol Alergol 2017 Aug 2;34(4):381-387. Epub 2017 Aug 2.

Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Medical College in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.

PLoS One 2017 15;12(9):e0184702. Epub 2017 Sep 15.

Department of Biochemistry, Tokyo Dental College, Tokyo, Japan.

Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades, which involve several molecules; however, no associated genotype-phenotype correlations have been reported. Read More

Clin Case Rep 2017 Sep 29;5(9):1503-1509. Epub 2017 Jul 29.

Department of Clinical GeneticsLeiden University Medical CenterLeidenThe Netherlands.

We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma. Read More

J Eur Acad Dermatol Venereol 2018 Feb 14;32(2):209-214. Epub 2017 Sep 14.

Dermatology, Department of Experimental Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

Oral pigmentations (OPs) are often neglected, although a meticulous examination of the oral cavity is important not only in the diagnosis of oral melanoma, but also for the detection of important clinical findings that may indicate the presence of a systemic disease. OPs may be classified into two major groups on the basis of their clinical appearance: focal and diffuse pigmentations, even though this distinction may not appear so limpid in some cases. The former include amalgam tattoo, melanocytic nevi, melanoacanthoma and melanosis, while the latter include physiological/racial pigmentations, smoker's melanosis, drug-induced hyperpigmentations, postinflammatory hyperpigmentations and OPs associated with systemic diseases. Read More

J Am Acad Dermatol 2017 Nov 16;77(5):874-878. Epub 2017 Aug 16.

Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

Background: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor.

Objective: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM).

Methods: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Read More

Pan Afr Med J 2017 7;27:96. Epub 2017 Jun 7.

Department of Prosthodontics School of Dental Sciences, KIMSDU, Karad, Maharashtra, India.

Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. Read More

J Oral Maxillofac Surg 2017 Dec 1;75(12):2579-2592. Epub 2017 Jun 1.

Associate Professor, Department of Oral Pathology, Oral Cancer Research Institute, Yonsei University College of Dentistry, Seoul, Korea. Electronic address:

The deep penetrating nevus (DPN) is a rare benign melanocytic tumor often clinically and histopathologically mistaken for malignant melanoma (MM) and other nevus types. This report describes an extremely rare case of multiple lesions of a large DPN in the oral cavity with extensive infiltration to the minor salivary gland, buccal fat pad, buccinators, and masseter muscles, yet with preservation of the normal anatomic architecture. After receiving a diagnosis of MM in another hospital, the patient was at risk for receiving a wide excision that included the masticatory muscles, facial nerve, and overlying skin. Read More

J Clin Diagn Res 2017 May 1;11(5):ZD12-ZD14. Epub 2017 May 1.

Postgraduate Student, Department of Oral Medicine and Radiology, Lenora Institute of Dental Sciences, Rajanagaram, Rajahmundry, Andhra Pradesh, India.

The aim of this case review was to touch upon the various clinical presentations and diagnostic features of Sturge-Weber syndrome (SWS) as seen in the dental/medical practice. Sturge-Weber syndrome is a rare congenital disorder that belongs to a group of disorders collectively known as the phakomatoses. The characteristic pathological elements of the disease include leptomeninges angioma extending out to cerebral cortex with angiomatous lesions on the same side and unilateral facial nevus that affects trigeminal nerve division. Read More

Pediatr Blood Cancer 2017 Dec 19;64(12). Epub 2017 Jun 19.

Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.

Background: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. Read More

Australas J Dermatol 2017 Jun 16. Epub 2017 Jun 16.

Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Systematised epidermal naevi are hamartomas developing from neural ectoderm that can be quite extensive, typically with involvement of the face, neck, scalp, arms, legs and trunk. Involvement of the gastrointestinal tract is rare. We report on a 38-year-old Caucasian woman with systematised epidermal naevus syndrome who presented with previously undescribed involvement of the oesophagus, as well as the right side of her scalp, forehead, cheeks, chin, oral mucosa, neck, arms and trunk. Read More

Braz Oral Res 2017 Apr 27;31:e34. Epub 2017 Apr 27.

Universidade Estadual da Paraíba - UEPB, Dental School, Department of Dentistry, Campina Grande, PB, Brazil.

The aim of this study was to evaluate the immunoexpression of glucose transporters 1 (GLUT-1) and 3 (GLUT-3) in keratocystic odontogenic tumors associated with Gorlin syndrome (SKOTs) and non-syndromic keratocystic odontogenic tumors (NSKOTs), and to establish correlations with the angiogenic index. Seventeen primary NSKOTs, seven recurrent NSKOTs, and 17 SKOTs were selected for the study. The percentage of immunopositive cells for GLUT-1 and GLUT-3 in the epithelial component of the tumors was assessed. Read More

Gastroenterology 2017 Jun 4;152(8):e1-e2. Epub 2017 May 4.

Division of Gastroenterology, University of Southern California Schools of Medicine, Los Angeles, California.

Rinsho Shinkeigaku 2017 05 27;57(5):214-219. Epub 2017 Apr 27.

Department of Neurology, Mie University Graduate School of Medicine.

A 55-year-old man with no mental retardation had presented a history of frequent transient clumsiness of his right upper and lower extremities for about 20 years. He was admitted to a general hospital with weakness of right side of the body, and first-ever generalized seizure attack occurred the next day. Brain CT showed calcification in the left cerebral cortices. Read More

G Ital Dermatol Venereol 2017 Apr 19. Epub 2017 Apr 19.

Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy -

Melanocytes are found throughout the oral mucosa but usually go unnoticed because of their relatively low level of pigment production. When focally or generally active in pigment production or proliferation they may be responsible for several affections in the oral mucosae ranging from physiologic pigmentation, systemic diseases to malignant neoplasms. The diagnosis of oral pigmentations (OP) is usually challenging for the physician, but a careful examination of the oral cavity may reveal the first manifestation of underlying systemic diseases. Read More

J Stomatol Oral Maxillofac Surg 2017 Jun 29;118(3):151-155. Epub 2017 Mar 29.

Dental School of University of Seville, Spain.

Introduction: Oral melanocytic nevi (OMNs) are uncommon benign melanocytic tumors, histologically similar to their cutaneous counterparts. The aim of this study was twofold: to contribute to the epidemiology with a literature review with the first Spanish series of OMNs, and to report on clinicopathological, immunohistochemical and demographic findings.

Materials And Methods: A retrospective analysis of cases attended over the period 1999-2010 was carried out using data drawn from the pathology unit files at two public hospitals in the Spanish region of Andalusia, serving between them a population of 823. Read More

J Coll Physicians Surg Pak 2017 Mar;27(3):S56-S57

Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Mall Road, Military Hospital, Rawalpindi.

Oculodermal melanocytosis, also known as Nevus of Ota, is a hamartomatous melanocytic nevus of dermal melanocytes. It presents as a bluish grey patch on the face, which may be congenital or acquired involving the area of distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The nevus can be unilateral or bilateral, and, in addition to skin, it may involve ocular and oral mucosal surfaces. Read More

Lancet Oncol 2017 Mar 8;18(3):404-412. Epub 2017 Feb 8.

Klinik für Dermatologie, Venereologie und Allergologie, Universitätsklinikum Essen, Essen, Germany.

Background: Vismodegib, a first-in-class Hedgehog-pathway inhibitor, is approved for use in adults with advanced basal-cell carcinoma. Patients with multiple basal-cell carcinomas, including those with basal-cell nevus (Gorlin) syndrome, need extended treatment. We assessed the safety and activity of two long-term intermittent vismodegib dosing regimens in patients with multiple basal-cell carcinomas. Read More

Oral Surg Oral Med Oral Pathol Oral Radiol 2017 Mar 1;123(3):358-364. Epub 2016 Nov 1.

Division of Oral Pathology, Boston University Henry M. Goldman School of Dental Medicine, Boston, MA, USA.

We report 7 cases of hitherto undescribed keratotic papillary plaques of uncertain etiology involving the gingiva. All 7 cases presented on the anterior maxillary attached gingiva of patients in the second decade. The lesions were asymptomatic and 86% (6 of 7 cases) presented in a bilateral symmetric distribution. Read More

Br J Dermatol 2017 May 4;176(5):1131-1143. Epub 2017 Apr 4.

Paediatric Oncology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, U.K.

Congenital melanocytic naevi (CMN) are a known risk factor for melanoma, with the greatest risk currently thought to be in childhood. There has been controversy over the years about the incidence of melanoma, and therefore over the clinical management of CMN, due partly to the difficulties of histological diagnosis and partly to publishing bias towards cases of malignancy. Large cohort studies have demonstrated that melanoma risk in childhood is related to the severity of the congenital phenotype. Read More

Am J Dermatopathol 2017 Jan;39(1):e8-e12

*Department of Oral and Maxillofacial Pathology, Naval Postgraduate Dental School, Bethesda, MD; and †Department of Pathology, Walter Reed National Medical Military Center, Bethesda, MD.

The congenital melanocytic nevus is a pigmented melanocytic lesion that presents at birth or shortly thereafter. It is commonly described on the skin, usually on the trunk and extremities. Only five intraoral cases of congenital melanocytic nevi have been described in the English literature. Read More

J Craniofac Surg 2016 Nov;27(8):e737-e738

*I Department of Obstetrics and Gynaecology, The Centre of Postgraduate Medical Education†Center for Craniofacial Disorders, Institute of Mother and Child, Warsaw, Poland.

The authors present a clinical report of the giant fetal tumor protruding from the oral cavity diagnosed sonographically at 32 weeks of gestation as an epignathus. After delivery, tumor proved to be a presentation of the blue rubber bleb nevus syndrome. To the best of our knowledge, the literature offers no reports on similar cases. Read More

Cancer Prev Res (Phila) 2017 Jan 5;10(1):36-44. Epub 2016 Dec 5.

Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah.

Oxidative stress plays a role in UV-induced melanoma, which may arise from melanocytic nevi. We investigated whether oral administration of the antioxidant N-acetylcysteine (NAC) could protect nevi from oxidative stress in vivo in the setting of acute UV exposure. The minimal erythemal dose (MED) was determined for 100 patients at increased risk for melanoma. Read More

Exp Cell Res 2017 Jan 2;350(1):267-278. Epub 2016 Dec 2.

Department of Pathology and Forensic Medicine, University of Turku and Turku University Hospital, Turku, Finland; MediCity Research Laboratory, University of Turku, Finland. Electronic address:

The functional properties of actin-regulating formin proteins are diverse and in many cases cell-type specific. FHOD1, a formin expressed predominantly in cells of mesenchymal lineage, bundles actin filaments and participates in maintenance of cell shape, migration and cellular protrusions. FHOD1 participates in cancer-associated epithelial to mesenchymal transition (EMT) in oral squamous cell carcinoma and breast cancer. Read More

Singapore Dent J 2016 Dec;37:33-35

Department of Oral Pathology, Faculty of Dentistry, Jamia Millia Islamia, New Delhi. Electronic address:

Solitary pigmented melanocytic intraoral lesions of the oral cavity are rare. Oral nevus is a congenital or acquired benign neoplasm. Oral compound nevus constitutes 5. Read More

Dermatol Ther 2017 Mar 28;30(2). Epub 2016 Nov 28.

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Mycobacterium W (Mw) vaccine has been found to be effective in the treatment of leprosy and warts. Despite increasing use of Mw immunotherapy, data on its safety is limited. We report a series of eight patients who developed persisting injection site granulomatous reaction following Mw immunotherapy and were successfully treated with minocycline. Read More

J Korean Assoc Oral Maxillofac Surg 2016 Oct 25;42(5):284-287. Epub 2016 Oct 25.

Department of Oral and Maxillofacial Surgery, School of Dentistry, Chosun University, Gwangju, Korea.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Read More

Lancet Oncol 2016 Dec 10;17(12):1720-1731. Epub 2016 Nov 10.

Children's Hospital of Oakland Research Institute, Oakland, CA, USA. Electronic address:

Background: Aberrant hedgehog signalling underlies the development of basal-cell carcinomas. We previously reported the interim analysis of a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial in patients with the basal-cell nevus (Gorlin) syndrome indicating that the smoothened inhibitor vismodegib reduces basal-cell carcinoma tumour burden and prevents new basal-cell carcinoma growth in patients with basal-cell nevus syndrome. We report the final results of this 36 month trial. Read More

J Pediatr Hematol Oncol 2017 Mar;39(2):147-149

Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.

Recently, sirolimus was demonstrated to be effective in treating vascular lesions and lessening the frequency of bleeding and secondary iron deficiency anemia. We present a child with blue rubber bleb nevus syndrome who had prolonged history of iron deficiency anemia secondary to unrecognized gastrointestinal bleeding. Treatment with propranolol, omeprazole and iron had failed. Read More

J Oral Maxillofac Pathol 2016 May-Aug;20(2):300-3

Department of Oral Pathology and Microbiology, Dental College, Regional Institute of Medical Sciences, Imphal, Manipur, India.

White sponge nevus (WSN) is an interesting hereditary oral mucosal disorder that commonly manifests as bilaterally symmetrical, thickened white, corrugated or velvety, diffuse plaques that predominantly affects the buccal mucosa. The lesions may develop at birth or later in childhood or adolescence. Because it is asymptomatic and benign, WSN requires no treatment. Read More

Eurasian J Med 2016 Jun;48(2):107-11

Department of Dermatology, Erciyes University School of Medicine, Kayseri, Turkey.

Objective: Diagnoses of skin, mucosae, hair and nail manifestations in malignant diseases are often challenging because of life-threatening drug reactions, opportunistic infections or skin involvement of primary processes. Description of morphology, configuration and distribution of lesions is important in order to differentiate the self-healing eruptions from serious side effects of chemotherapy. There are case reports from Turkey including dermatological manifestations of malignancies and case series in adult patients but there are no published large group studies assessing all manifestations in children. Read More

Indian J Pathol Microbiol 2016 Jul-Sep;59(3):335-8

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. Read More

Skinmed 2016 1;14(3):221-4. Epub 2016 Jun 1.

Departments of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY;

An 11-year-old Tanzanian girl presented with diffuse verrucous lesions of varying morphology, scarring alopecia, and keloid scars over the face with a predilection for the ears. Physical examination revealed dark keratoderma and patches of hypopigmentation near the midline of the dorsal trunk (Figure 1a). Her forearms were densely covered by verrucous lesions with the exception of a clear linear patch on the dorsal aspect of the left forearm (Figure 1b). Read More