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 2017 Sep 1. Epub 2017 Sep 1.

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 Aug 16. 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 Jun 1. 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 Jun 19. 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

Rinsho Shinkeigaku 2017 May 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

Case Rep Dermatol 2016 May-Aug;8(2):118-23. Epub 2016 May 24.

Department of Dermatology, CHU du Sart Tilman, University of Liège, Liège, Belgium.

A 52-year-old White man presented with a dozen small, well-restricted, punctiform, asymptomatic, blue-gray macules on the left shoulder. A few months earlier, he had been treated with oral acyclovir for herpes zoster (HZ) affecting the left C7-C8 dermatomes. All the blue macules appeared over a short period of time and then remained stable. Read More

BMC Res Notes 2016 Jul 22;9:357. Epub 2016 Jul 22.

Dhaka Medical College, Dhaka, Bangladesh.

Background: Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx cerebral calcifications, which occur due to mutation in PTCH gene.

Case Presentation: A 36 year old Asian patient presented with jaw swelling and pain. Radiographic examination revealed six cysts in maxilla and mandible which were excised and histologically were compatable with keratocystic odontogenic tumors. Read More

J Am Acad Dermatol 2016 Jul;75(1):e15-6

Department of Dermatology, Medical University of Graz, Graz, Austria.

Int J Clin Pediatr Dent 2016 Jan-Mar;9(1):82-5. Epub 2016 Apr 22.

Assistant Professor, Department of Pedodontics and Preventive Dentistry Maulana Azad Institute of Dental Sciences, New Delhi, India.

Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Read More

Pediatr Blood Cancer 2016 Nov 8;63(11):1911-4. Epub 2016 Jun 8.

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

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation syndrome involving predominantly the skin and gastrointestinal tract. Traditional treatment modalities include corticosteroids, interferon-α, sclerotherapy, and aggressive surgical resection. Sirolimus has been used in several single case reports. Read More

Acta Ophthalmol 2016 May;94 Thesis 1:1-27

Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark.

Conjunctival malignant melanoma is a rare disease associated with considerable mortality. Most published data have been based on case reports or series of referred patients. In addition, very little is known about the genetic and epigenetic profile of conjunctival melanoma and the resemblance to uveal, cutaneous and mucosal melanoma. Read More

Masui 2016 Apr;65(4):384-6

We report the anesthetic management of a pediatric case of blue rubber bleb nevi syndrome combined with small-intestinal intussusception. A 2-year-old girl was transferred to our hospital for small-intestinal intussusception. Emergent ablation of the upper gastrointestinal tract nevus under general anesthesia was planned. Read More

J Oral Maxillofac Surg 2016 Oct 13;74(10):2000-6. Epub 2016 Apr 13.

Attending Surgeon, Department of Oral & Maxillofacial Surgery, Walter Reed National Military Medical Center, Bethesda, MD.

A 20-year-old man presented to the oral and maxillofacial surgery department for evaluation and treatment of a dentofacial deformity. On examination, it was noted that he had marked hemifacial hyperpigmented papillomatous lesions covering the upper and middle thirds of the right side of his face extending to the right upper lid. Of note, he also had extensive intraoral involvement. Read More

Acta Dermatovenerol Croat 2016 Apr;24(1):73-7

Ewelina Bogumiła Zuba, MD, Medical University of Poznan, 49 Przybyszewskiego St, 60-355 Poznan, Poland;

Dear Editor, Ultraviolet (UV) radiation is a well-known physical hazard responsible for photoaging, photoallergic, and phototoxic reactions as well as carcinogenesis, including life-threatening melanomas (1,2). Overexposure to both natural and artificial UV radiation is a public health concern. 30% of cancers diagnosed worldwide are skin cancers. Read More

Am J Pathol 2016 Jun 18;186(6):1427-34. Epub 2016 Apr 18.

Program in Dermatopathology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

Although melanoma is an aggressive cancer, the understanding of the virulence-conferring pathways involved remains incomplete. We have demonstrated that loss of ten-eleven translocation methylcytosine dioxygenase (TET2)-mediated 5-hydroxymethylcytosine (5-hmC) is an epigenetic driver of melanoma growth and a biomarker of clinical virulence. We also have determined that the intermediate filament protein nestin correlates with tumorigenic and invasive melanoma growth. Read More

Dermatopathology (Basel) 2015 Apr-Jun;2(2):52-60. Epub 2015 Apr 29.

Unit of Oral Medicine and Oral and Maxillofacial Pathology, Division of Oral and Maxillofacial Surgery, Department of Surgery, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland.

Benign fibrous histiocytomas (BFH) of the skin are common lesions, although they only rarely involve the oral mucosa. This article presents 3 additional cases of BFH of the oral mucosa, with a review of previously published cases. Although a malignant variant of BFH also exists, the present review focuses only on benign lesions. Read More

Clin Lab 2016 ;62(1-2):241-3

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by vascular malformations mostly involving skin and gastrointestinal tract. This disease is often associated with sideropenic anemia and occult bleeding.

Methods: We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation. Read More

Pediatr Dermatol 2016 Mar-Apr;33(2):e154-5

Department of Human Pathology, University of Messina, Messina, Italy.

Pigmented mucosal lesions represent a group of rare entities with different etiopathogenetic origins, histopathologic features, dermoscopic appearances, and clinical course. Solitary pigmented lesions of melanocytic origin are uncommon in the oral mucosa, and intraoral occurrence of Spitz nevus is very rare. Here we present a case of Spitz nevus occurring on the hard palate of a 26-month-old boy. Read More

Ann Maxillofac Surg 2015 Jul-Dec;5(2):277-80

Department of Oral and Maxillofacial Pathology and Microbiology, Dr. D. Y. Patil Dental College and Hospital, Navi Mumbai, Maharashtra, India.

Keratocystic odontogenic tumor (KCOT) is of particular interest because its recurrence rate is high and its behavior is aggressive. Nevoid basal cell carcinoma syndrome (NBCCS), which is also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and with a predisposition to neoplasms. These multiple KCOTs have warranted an aggressive treatment at the earliest because of the damage and possible complications. Read More

Head Neck Pathol 2016 Jun 14;10(2):119-24. Epub 2016 Mar 14.

Department of Pathology, Brigham and Women's Hospital, 75 Francis St., Boston, MA, 02115, USA.

Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. Read More

Am J Dermatopathol 2016 Jun;38(6):e81-6

*Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, TX; †Oral/Maxillofacial Surgery, CAMA Services, Mali, West Africa; ‡Division of Oral and Maxillofacial Pathology and Radiology, College of Dentistry, The Ohio State University, Columbus, OH; and §Department of Pathology, The Ohio State University-Wexner Medical Center, Columbus, OH.

Hair follicle nevus (HFN) is a rare hamartomatous lesion of the folliculosebaceous unit, with or without admixed fibroadipose or muscular tissue. It typically has a congenital presentation in the preauricular area of infants and is frequently confused with an accessory tragus. Acquired tumors with similar histopathologic features have been described infrequently during adolescence and adult life. Read More

Am J Med Genet A 2016 Apr 18;170A(4):1029-34. Epub 2016 Jan 18.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

We describe a Gorlin syndrome (GS) case with two different second hit mutations of PTCH1, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastomas, skeletal abnormalities, and ovarian fibromas. A 21-year-old Japanese woman with a history of two KCOTs was diagnosed with GS according to clinical criteria. Read More

Indian J Dent 2015 Oct-Dec;6(4):203-6

Department of Oral Medicine and Radiology, Subharti Dental College, Meerut, Uttar Pradesh, India.

Epidermal nevi are hamartomatous lesion and its association with other developmental defects particularly of the central nervous system, eye and skeletal system are well recognized. We report a rare case of inflammatory linear verrucous epidermal nevus syndrome along with regional odontodysplasia; and to the best of our knowledge this is the second case reported in the literature. Read More

Head Neck Pathol 2016 Sep 8;10(3):384-8. Epub 2016 Jan 8.

Oral Surgery Associates, 464 S Hickory Street, Suite A, Fond du Lac, WI, 54935-5531, USA.

The desmoplastic melanocytic nevus is an uncommon variant that easily may be confused with a fibrohistiocytic neoplasm or a desmoplastic melanoma. It is believed that the following report describes the first known example of a desmoplastic melanocytic nevus arising in the oral mucosa. The histopathologic and immunohistochemical features that allow separation from other microscopically similar pathoses are stressed. Read More

Int J Dermatol 2016 Sep 28;55(9):1005-13. Epub 2015 Dec 28.

University College London, London, UK.

Background: To examine the relative prevalence, types, and clinical features of pigmented lesions of the oral mucosa in 1275 patients attending a university hospital for dental care.

Methods: Patients attending dental clinics at The University of Jordan Hospital over a 1-year period were examined for the presence of oral pigmentations. Histopathological examination was performed on focally pigmented lesions with a suspicious or uncertain clinical diagnosis. Read More