Search Our Scientific Publications & Authors

J Hum Genet 2018 Jun 21. Epub 2018 Jun 21.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues. We detected a novel, pathogenic de novo mutation in PTCH1 isoform 1b (c. Read More

An Bras Dermatol 2018 Jun;93(3):419-421

Dermatologic Surgery Service, Hospital Heliópolis, São Paulo, SP, Brazil.

Basal cell carcinoma is the most frequent skin cancer, generally located in hair-bearing, sunlight-exposed areas. Basal cell carcinoma usually occurs on the head and neck, but very rarely on extra-facial locations. We report a case of a 65-year-old woman presenting with a solitary non-healing ulcer on the sole of the right foot for two years. Read More

J Oral Biol Craniofac Res 2018 May-Aug;8(2):143-146. Epub 2018 Feb 1.

Department of Oral and Maxillofacial Surgery, Luton and Dunstable University Hospital, Lewsey Road, Luton, LU4 0DZ, United Kingdom.

Focal Dermal Hypoplasia (FDH) or Goltz-Gorlin syndrome is an unusual X-linked dominant syndrome characterised by anomalies of both ectodermal and mesodermal structures. We present a case report on the management of a 58 year old Caucasian male with Focal Dermal Hypoplasia. This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Read More

Pediatr Dermatol 2018 May 25. Epub 2018 May 25.

Departments of Maxillofacial and Plastic Surgery, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris, University Paris 5, Paris, France.

This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed. Read More

Acta Dermatovenerol Croat 2018 Apr;26(1):68-70

Daniela Ledić Drvar, MD, PhD, University Hospital Centre Zagreb, Department of Dermatology and Venereology, School of Medicine University of Zagreb, Šalata 4, 10000 Zagreb, Croatia;

Dear Editor, Pitted keratolysis (PK), also known as keratosis plantaris sulcatum, is a non-inflammatory, bacterial, superficial cutaneous infection, characterized by many discrete superficial crateriform ''pits'' and erosions in the thickly keratinized skin of the weight-bearing regions of the soles of the feet (1). The disease often goes unnoticed by the patient, but when it is noticed it is because of the unbearable malodor and hyperhidrosis of the feet, which are socially unacceptable and cause great anxiety to many of the patients. PK occurs worldwide, with the incidence rates varying based on the environment and occupation. Read More

Insights Imaging 2018 May 15. Epub 2018 May 15.

Division of Radiology, Department of Imaging and Medical Informatics, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland.

Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Read More

J Invest Dermatol 2018 May;138(5):1017-1019

Department of Developmental and Cell Biology, University of California, Irvine, California, USA; Department of Dermatology, University of California, Irvine, California, USA; Chao Family Comprehensive Cancer Center, University of California, Irvine, California, USA. Electronic address:

Sporadic and basal cell nevus syndrome basal cell carcinomas show differential response rates to Smoothened inhibitors. Chiang et al. demonstrate notable decreases in UV-induced mutagenesis, total mutation load, genomic instability, and drug-resistant mutations among basal cell nevus syndrome basal cell carcinomas using whole exome sequencing, which may explain the differences in drug response rates. Read More

Neurosurgery 2018 Apr 11. Epub 2018 Apr 11.

Vivian L. Smith Department of Neurosur-gery, University of Texas Health Science Center at Houston, Texas.

Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More

J Craniofac Surg 2018 Apr 4. Epub 2018 Apr 4.

Dental School, State University of Western Paraná (UNIOESTE), Cascavel, Brazil.

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal dominant disorder, with no gender predilection. Individuals with NBCCS are commonly diagnosed between 17 and 35 years old and can present multiple basal cell carcinomas scattered throughout the body, presence of recurrent and early-onset odontogenic keratocysts (OKCs) and skeletal abnormalities. This article describes a case of a 13-year-old white boy who referred complaining of facial asymmetry. Read More

J Clin Aesthet Dermatol 2018 Mar 1;11(3):39-41. Epub 2018 Mar 1.

Dr. Segars is with NSU-COM/Largo Medical Center Dermatology Residency in Largo, Florida.

Basaloid follicular hamartoma (BFH) is a rare, benign neoplasm of the hair follicle, characterized by multiple brown papules involving the face, scalp, and trunk. It is described by multiple clinical forms, and can present as localized or generalized. Diagnosis is made histologically via biopsy, which is important in order to distinguish BFH from basal cell carcinoma (BCC) or other malignant epithelial neoplasms. Read More

Mol Genet Genomic Med 2018 May 25;6(3):409-415. Epub 2018 Mar 25.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

Background: Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications. BCNS most commonly is caused by a germline mutation in the patched-1 (PTCH1) gene. PTCH1 mutations are also described in patients with holoprosencephaly. Read More

Pediatr Dermatol 2018 May 25;35(3):e191-e192. Epub 2018 Mar 25.

Department of Dermatology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.

Papular epidermal nevus with "skyline" basal cell layer is a variant of keratinocytic nevus that usually occurs sporadically but may affect different family members. We report on the fourth family with papular epidermal nevus with "skyline" basal cell layer affecting a 3-month-old girl and her father. Read More

Clin Oral Investig 2018 Mar 21. Epub 2018 Mar 21.

Department of Stomatology, School of Dentistry, University of Sao Paulo, Av. Prof. Lineu Prestes 2227 (Butantã), São Paulo, 03178-200, Brazil.

Aims: The aim of this study was to compare the clinical and demographic features of 62 patients presenting sporadic odontogenic keratocysts (OKCs) or OKCs associated with nevoid basal cell carcinoma syndrome (NBCCS). In conjunction with this, we also evaluated the immunohistochemical expression of Shh, Ptch1, Ptch2, Smo, Gli1, Gli2 and Gli3 proteins in 86 OKCs. By doing this, we add to the understanding of the biology of this type of lesion, providing tools that will help facilitate the early diagnosis of NBCCS in those patients where the first manifestation is that of OKCs. Read More

J Invest Dermatol 2018 Mar 14. Epub 2018 Mar 14.

Department of Dermatology, Columbia University Medical Center, New York, New York, USA.

Currently available smoothened targeted therapies in patients with basal cell nevus syndrome are associated with substantial tumor recurrence and clinical resistance. Strategies bypassing smoothened and/or identifying additional downstream components of the Hedgehog pathway could provide novel antitumor targets with a better therapeutic index. Sry-related high mobility group box 9 (SOX9) is a Hedgehog/glioma-associated oncogene homolog-regulated transcription factor known to be overexpressed in basal cell carcinomas (BCCs). Read More

Cytogenet Genome Res 2018 16;154(2):57-61. Epub 2018 Mar 16.

Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Read More

J Craniofac Surg 2018 Mar 8. Epub 2018 Mar 8.

State University of Maringá, Maringá, Brazil.

Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits. Read More

Croat Med J 2018 Feb;59(1):20-24

Vesna Musani, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička 54, 10000 Zagreb, Croatia,

We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. Read More

J Oral Maxillofac Pathol 2018 Jan;22(Suppl 1):S20-S23

Department of Oral and Maxillofacial Surgery, Bharati Vidyapeeth (Deemed to be University) Dental College and Hospital, Sangli, Maharashtra, India.

Orthokeratinized odontogenic cyst (OOC) is a relatively rare odontogenic cyst, distinct from odontogenic keratocyst (OKC). In the 4 edition of WHO Classification of Head and Neck Tumors (2017), OOC has been included as a separate entity in the category of developmental odontogenic cysts. It presents as a unilocular radiolucent lesion in the posterior mandible and is frequently related to impacted teeth, thus mimicking dentigerous cyst. Read More

Pediatr Dermatol 2018 May 28;35(3):e147-e150. Epub 2018 Feb 28.

Division of Dermatology, "U.O. Multizonale," S. Chiara Hospital, Outpatient Consultation for Rare Diseases, Trento, Italy.

Papular epidermal nevus with "skyline" basal cell layer is a newly described keratinocytic nevus. Recently, papular epidermal nevus with "skyline" basal cell layer has been reported in association with extracutaneous involvement, and the term papular epidermal nevus with "skyline" basal cell layer syndrome is used to indicate a neurocutaneous syndrome characterized by the presence of papular epidermal nevus with "skyline" basal cell layer and different neurologic symptoms that seem to improve during infancy and adolescence. Multiple pilomatricomas have been reported in association with various syndromes. Read More

Photodiagnosis Photodyn Ther 2018 Jun 19;22:7-13. Epub 2018 Feb 19.

Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH 44195, United States.

Background: Photodynamic therapy (PDT) is a non-scarring alternative for treating basal cell carcinoma (BCC) in patients with Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. In Europe, red light (635 nm) is the predominant source for PDT, whereas in the United States blue light (400 nm) is more widely available. The objective of this study was to conduct a head-to-head comparison of blue light and red light PDT in the same BCNS patients. Read More

Pathophysiology 2018 Jun 31;25(2):77-82. 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

Digit J Ophthalmol 2017 21;23(4):1-3. Epub 2017 Nov 21.

Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, New York.

This review summarizes three case series published in the field of oculoplastic surgery in the year 2015. The first article describes the use of hedgehog pathway inhibitors for medical therapy of advanced periocular basal cell carcinoma and basal cell nevus syndrome. The second describes the use of c-reactive protein as a marker for starting treatment with steroids in children with orbital cellulitis. Read More

J Cutan Med Surg 2018 May/Jun;22(3):349-352. Epub 2018 Jan 31.

2 Division of Dermatology, University of Calgary, Calgary, AB, Canada.

J Craniofac Surg 2018 May;29(3):e252-e255

Department of Oral and Maxillofacial Surgery, College of Medicine, University of Ulsan, Seoul Asan Medical Center, Seoul, Korea.

The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Read More

Pathology 2018 Feb 17;50(2):238-256. Epub 2018 Jan 17.

University of California San Francisco, Pathology Department, San Francisco, CA, United States. Electronic address:

The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. Read More

Actas Dermosifiliogr 2018 Apr 17;109(3):207-217. Epub 2018 Jan 17.

Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca, Salamanca, España; Departamento de Dermatología, Hospital Clínico Universitario, Salamanca, España.

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. Read More

Rev Peru Med Exp Salud Publica 2017 Oct-Dec;34(4):744-750

Facultad de Medicina Humana. Universidad Ricardo Palma. Lima, Perú.

Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. Read More

Cutis 2017 Dec;100(6):423-426

Nova Southeastern College of Osteopathic Medicine, Largo Medical Center, Florida, USA.

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal-dominant, cancer-predisposing, multisystem disorder. The clinical manifestations of NBCCS include multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar or plantar pits, and calcification of the falx cerebri. We present a case of an 11-year-old boy with Fitzpatrick skin type V who presented with multiple facial lesions and a history of maxillary keratocysts. Read More

Surv Ophthalmol 2017 Dec 27. Epub 2017 Dec 27.

Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA; Ophthalmic Plastic and Reconstructive Surgery Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

A 38-year-old woman presented with multiple bilateral recurrent eyelid cysts. Her medical history was notable for Gorlin (nevoid basal cell carcinoma) syndrome. Histopathologic and immunohistochemical examinations revealed that the lesions were intratarsal keratinous cysts. Read More

Anticancer Res 2018 01;38(1):471-476

Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.

Background/aim: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. 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

Neuro Oncol 2017 Nov 24. Epub 2017 Nov 24.

Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.

Background: Germline SUFU mutations predispose to SHH medulloblastoma. Germline SUFU mutations have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum.

Patients And Methods: We performed a retrospective review of all patients with medulloblastoma and a germline SUFU mutation in France. Read More

J Eur Acad Dermatol Venereol 2018 May 12;32(5):e179-e181. Epub 2017 Dec 12.

University of Central Florida College of Medicine, 6850 Lake Nona Blvd, Orlando, 32827, FL, USA.

Clin Imaging 2018 May - Jun;49:17-36. Epub 2017 Oct 31.

Department of Radiology, Division of Pediatric Radiology, Montefiore Medical Center, Bronx, NY, United States. Electronic address:

Purpose: Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs.

Methods: We review the imaging findings in childhood diseases associated with dermatologic manifestations. Read More

J Clin Neurosci 2018 Jan 4;47:157-159. Epub 2017 Nov 4.

Department of Radiology and Imaging, Queen Elizabeth Hospital, Hong Kong.

A middle-aged man presented with syncope and confusion. Neuroimaging revealed a third ventricular mass with obstructive hydrocephalus and bilateral convexity meningiomata. The masses were excised and pathology showed a colloid cyst and WHO grade 1 meningiomata respectively. Read More

J Invest Dermatol 2018 May 27;138(5):1044-1051. Epub 2017 Oct 27.

Department of Dermatology, Stanford University School of Medicine, Stanford, California, USA. Electronic address:

Basal cell cancers (BCCs) are characterized by upregulation of Hedgehog pathway through loss of PTCH1 or activation of SMO, and SMO inhibitors, such as vismodegib, are effective therapies for advanced BCCs. Although most BCCs are sporadic, rare individuals with basal cell nevus syndrome (BCNS) harbor germline defects in PTCH1 and develop up to hundreds of tumors that are histopathologically indistinguishable from sporadic BCCs. Interestingly, BCNS-BCCs are more responsive to SMO inhibitors than sporadic BCCs, with minimal development of resistance. Read More

J Oral Maxillofac Surg 2018 Apr 13;76(4):770-774. Epub 2017 Oct 13.

Professor, Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

Purpose: We hypothesized that fragmentation of the cystic capsule during surgery would influence the recurrence rate of odontogenic keratocysts (OKCs) regardless of the treatment modality chosen.

Materials And Methods: We reviewed, in a retrospective study, cases diagnosed as OKCs on histopathologic examination at the oral pathology department between 1991 and 2013. Fragmentation data were obtained from the records of the oral surgical department. 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

Cancer Biomark 2017 Dec;21(1):161-168

Background: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease with a complex genetic etiology. Although three causative genes (PTCH1, PTCH2, SUFU) have been identified through linkage analysis and Sanger sequencing, the genetic background of NBCCS hasn't been fully understood.

Methods: We performed a whole-exome sequencing (WES) in a Han Chinese NBCCS family and two unaffected volunteers to search for its causative gene. 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

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

J Am Acad Dermatol 2017 Nov;77(5):809-830

Division of Dermatology, Baylor University Medical Center, Dallas, Texas. Electronic address:

The oral cavity and cutaneous organ systems share a close embryologic origin. Therefore, there are numerous dermatologic conditions presenting with concomitant oral findings of which the dermatologist must be aware. The second article in this continuing medical education series reviews inflammatory orocutaneous conditions and a number of genodermatoses. Read More

Practitioner 2017 01;261(1800):23-7

More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. 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.

Am J Dermatopathol 2018 Feb;40(2):131-135

Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Korea.

Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous. Read More

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

J Clin Neurol 2017 Oct 4;13(4):439-441. Epub 2017 Sep 4.

Department of Surgical Sciences and Advanced Technologies, Section of Neurosciences, Azienda Ospedaliero Universitaria "Policlinico-Vittorio Emanuele", Catania, Italy.

Acta Med Port 2017 May 31;30(5):418-421. Epub 2017 May 31.

Serviço de Dermatologia e Venereologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal. Departamento de Dermatologia. Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal.

The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. Read More

J Pediatr Hematol Oncol 2017 Oct;39(7):566-569

*Princess Máxima Center for Pediatric Oncology §Department of Radiology, University Medical Center Utrecht, Utrecht, the Netherlands †Department of Pediatrics, Erasmus MC-Sophia Children's Hospital ‡Department of Radiotherapy, Erasmus MC ∥Department of Pediatric Oncology, Erasmus MC-Sophia Children's Hospital ¶Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.

In 2003, van Grotel and colleagues reported an infant suffering a chemotherapy-resistant eRMS of the tongue, that was treated with subtotal tumor resection and brachytherapy after major medical ethical discussions. As no long-term sequelae of such a procedure have been described, perspectives were uncertain at that time. Now, after 15 years, we describe hypoplasia of the mandibula, compromised dentation, osteopenia, neuropsychological deficits, and moderate speech impairment as the most prominent late effects. Read More