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Dermatol Ther 2020 May 8:e13540. Epub 2020 May 8.

Department of Dermatology, Consorcio Hospital General Universitario de Valencia, Valencia, Spain.

Sonic hedgehog pathway inhibitor Vismodegib is the first systemic treatment to be approved for metastatic or locally advanced basal cell carcinoma non-subsidiary of surgical treatment, and appears to be a promising treatment option for patients with nevoid basal cell carcinoma syndrome. In these patients, where repeated or prolonged treatment may be necessary, the psychological exhaustion caused by the chronicity of less severe adverse effects appears as the main limiting factor in the persistence of the drug in the long term and in the willingness of patients to take the drug again after its suspension. We report our experience with three cases where a drug holiday approach was effective in decreasing the intensity of adverse effects or improving the patient's subjective tolerance to the drug while maintaining clinical response. Read More

J Am Acad Dermatol 2020 May 3. Epub 2020 May 3.

Dermatology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

Exp Dermatol 2020 Apr 16. Epub 2020 Apr 16.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.

The patched tumor suppressor gene (PTCH1) encodes a receptor, which is a key component of the hedgehog signalling pathway. Mutations in PTCH1 are implicated in the development of sporadic basal cell carcinomas (BCC), as well as those in Gorlin Syndrome. Rarely, BCCs may develop in a linear pattern along lines of Blaschko due to cutaneous mosaicism. Read More

J Clin Pathol 2020 Mar 26. Epub 2020 Mar 26.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA

Basal cell carcinoma (BCC) is the most common human malignant neoplasm. However, there are multiple BCC subtypes that share clinical features while demanding different management. We present a case of a woman with hundreds of BCCs throughout her body that were resistant to vismodegib and without other features of basal cell nevus syndrome. Read More

Neurotoxicol Teratol 2020 Mar - Apr;78:106866. Epub 2020 Feb 27.

Center for Human Health and the Environment, Department of Biological Sciences, North Carolina State University, 127 David Clark Labs, Campus Box 7617, Raleigh, NS, USA. Electronic address:

Sonic hedgehog (SHH) signaling is essential for the differentiation and migration of early stem cell populations during cerebellar development. Dysregulation of SHH-signaling can result in cerebellar overgrowth and the formation of the brain tumor medulloblastoma. Treatment for medulloblastoma is extremely aggressive and patients suffer life-long side effects including behavioral deficits. Read More

Clin Cosmet Investig Dermatol 2020 3;13:117-121. Epub 2020 Feb 3.

Skin Cancer Center University Hospital, Zürich, Switzerland.

J Am Acad Dermatol 2020 Jun 21;82(6):1539-1542. Epub 2020 Feb 21.

Department of Dermatology, Cleveland Clinic Foundation, Cleveland, Ohio.

Beijing Da Xue Xue Bao Yi Xue Ban 2020 Feb;52(1):35-42

Department of Oral Pathology, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

Objective: To investigate the clinicopathologic features and prognostic factors in odontogenic keratocyst (OKC), and to provide new reference for clinic treatment and management of these patients.

Methods: Clinicopathological data of 844 cases initially diagnosed as or associated with OKC at Department of Oral Pathology, Peking University Hospital of Stomatology from 2000 to 2018 were collected. The cases were divided into 4 groups: sporadic OKCs (intraosseous, cystic lesion irrelevant to nevoid basal cell carcinoma syndrome), syndromic OKCs, solid OKCs and peripheral OKCs. Read More

Pediatr Dermatol 2020 Feb 17. Epub 2020 Feb 17.

Harvard Medical School, Boston, MA, USA.

Little guidance on management of basal cell nevus syndrome in children exists. We report a case series of four patients diagnosed with BCNS in early childhood, in whom several highly suspicious lesions were biopsied, but several smaller and questionably concerning lesions were treated with therapies that are more tolerable for children, including topical imiquimod, 5-fluorouracil, cryotherapy, or touch electrodessication following topical anesthetic cream. These therapies were well tolerated, and all residual or persistent lesions were subsequently biopsied and found to be benign. Read More

Dermatol Online J 2019 Nov 15;25(11). Epub 2019 Nov 15.

Department of Dermatology, Wake Forest Baptist Medical Center, Winston Salem, NC.

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar pits, calcification of the falx cerebri, and skeletal abnormalities. Nevoid basal cell carcinoma syndrome is caused by mutations in the PTCH1 or SUFU genes. Our patient with Fitzpatrick skin type VI was diagnosed with Gorlin syndrome based on the presentation of multiple major diagnostic characteristics. Read More

Eur J Med Genet 2020 May 3;63(5):103872. Epub 2020 Feb 3.

Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo, 160-0023, Japan.

Microdeletions in the 9q22.3 chromosomal region can cause macrosomia with characteristic features, including prenatal-onset overgrowth, metopic craniosynostosis, hydrocephalus, developmental delay, and intellectual disability, in addition to manifestations of nevoid basal cell carcinoma syndrome (NBCCS). Haploinsufficiency of PTCH1 may be responsible for accelerated overgrowth, but the mechanism of macrosomia remains to be elucidated. Read More

Contemp Oncol (Pozn) 2019 30;23(4):251-253. Epub 2019 Dec 30.

Department of Translational Medicine, Division of Radiation Oncology, University of Pisa, Pisa, Italy.

Vismodegib is playing an increasing role in the treatment of locally advanced or metastatic basal cell carcinoma (BCC) that is not a candidate for surgery or radiotherapy, and also in radiation-induced BCC. A 22-year-old man with a history of Hodgkin lymphoma, nodular sclerosis stage IIA, from October 1994 to February 1995 treated with 25 mg/m doxorubicin, 10 IU/m bleomycin, 6 mg/m vinblastine, and 375 mg/m dacarbazine for four cycles, followed byconformal beam radiotherapy (EBRT) on laterocervical, supraclavear, and mediastinal nodes up to a total dose of 30 Gy and following EBRT boost on mediastinal nodes up to a dose of 10 Gy. Subsequently, the patient underwent conformal EBRT on lomboaortic nodes up to total dose of 30 Gy at the University Hospital of Pisa until May 1995. Read More

Int J Mol Sci 2020 Jan 22;21(3). Epub 2020 Jan 22.

Oncologic and Preventative Dermatology, San Gallicano Dermatological Institute, IRCCS, 00100 Rome, Italy.

Nevoid basal cell carcinoma syndrome (NBCCS), also named Gorlin syndrome, is a rare multisystem genetic disorder characterized by marked predisposition to basal cell carcinomas (BCCs), childhood medulloblastomas, maxillary keratocysts, celebral calcifications, in addition to various skeletal and soft tissue developmental abnormalities. Mutations in the tumor suppressor gene () have been found to be associated in the majority of NBCCS cases. somatic mutations and loss of heterozygosity are also very frequent in sporadic BCCs. Read More

Eur J Med Genet 2020 Apr 13;63(4):103842. Epub 2020 Jan 13.

Department of Pediatrics, Division of Clinical Genetics and Metabolism, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA. Electronic address:

Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome most commonly results from germline mutations of the PTCH1 tumor suppressor gene, which shows high penetrance and great intra and interfamilial phenotypic variability, as well as the SUFU tumor suppressor gene. Recently, the PTCH2 gene has also been implicated as a cause of Gorlin syndrome. Read More

Case Rep Dent 2019 23;2019:1608783. Epub 2019 Dec 23.

Department of Clinics, Pathology and Surgery, Federal University of Minas Gerais, Brazil.

The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression. It presents a series of relevant clinical manifestations that suggest its diagnosis in cutaneous, bone, dental, soft tissue, nervous, and ocular system disorders. This condition requires a great interaction of several specialists to improve the patient's life. Read More

Orv Hetil 2020 Jan;161(2):67-74

Fogorvostudományi Kar, Arc-, Állcsont- és Szájsebészeti Tanszék, Pécsi Tudományegyetem, Klinikai Központ Pécs.

Gorlin-Goltz syndrome is an autosomal dominant hereditary disease. Its leading symptoms include keratocysts of the jaws, multiple basal cell carcinomas, skeletal abnormalities, intracranial calcifications and dyskeratosis of the soles and palms. One of the most common and often firstly discovered symptoms is the single or multiplex keratocysts of the jaws. Read More

Med Oral Patol Oral Cir Bucal 2020 Jan 1;25(1):e56-e60. Epub 2020 Jan 1.

Post-graduation Program in Oral Pathology Federal University of Rio Grande do Norte Av. Senador Salgado Filho, 1787, Lagoa Nova Zip code: 59056-000 Natal, RN, Brazil

Background: Odontogenic keratocyst (OKC) is an odontogenic developmental cyst that presents distinct clinical behavior. This lesion has been described as dental cysts with keratinization since the 1930s, however the term OKC was established in 1956. This study aims to determine the frequency and features of OKC in children aged 0 to 14 years in an oral pathology service in Brazil. Read More

Skinmed 2019 1;17(5):324-327. Epub 2019 Sep 1.

Department of Dermatology, Sir Paul Boffa Hospital, Malta;

A 76-year-old woman with intellectual deficit presented with a small, pearly, telangiectatic raised lesion on the left cheek, together with an ulcerated lesion on the right side of the nose (Figure 1), which were clinically diagnosed as basal cell carcinomas (BCCs.) These were treated with cryotherapy. The patient had had a right hemimandibulectomy (Figure 1), and she showed frontal and temporal bossing and a wide nasal bridge. Read More

Curr Treat Options Oncol 2019 11 26;20(11):84. Epub 2019 Nov 26.

ILR Dermatology, Encino, CA, USA.

Opinion Statement: Advanced basal cell carcinoma (BCC) represents a small proportion of BCCs that are not amenable to standard therapies due to lack of efficacy, high recurrence risk, and excessive morbidity. Implication of the Sonic hedgehog (Shh) pathway in the development of BCC has led to the development of systemic Shh pathway inhibitors, providing patients with advanced BCCs new treatment options and improved survival. There are currently two Food and Drug Administration (FDA)-approved Shh inhibitors, vismodegib and sonidegib, for advanced basal cell carcinomas. Read More

Am J Surg Pathol 2020 Apr;44(4):553-560

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School.

Keratocystic odontogenic tumors (KCOTs) are locally aggressive odontogenic neoplasms with recurrence rates of up to 60%. Approximately 5% of KCOTs are associated with nevoid basal cell carcinoma (Gorlin) syndrome and 90% of these show genomic inactivation of the PTCH1 gene encoding Patched 1. Sporadic KCOTs reportedly have PTCH1 mutations in 30% of cases, but previous genomic analyses have been limited by low tumor DNA yield. Read More

Dermatol Pract Concept 2019 Oct 31;9(4):310-312. Epub 2019 Oct 31.

Dermatology Unit, University of Campania, Luigi Vanvitelli, Naples, Italy.

An Bras Dermatol 2019;94(4):487-489. Epub 2019 Oct 17.

Department of Dermatology, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Cureus 2019 Aug 13;11(8):e5383. Epub 2019 Aug 13.

Oncology, The University of Texas Medical Branch, Galveston, USA.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome or Gorlin syndrome, is a rare multisystem disorder with an estimated prevalence of around 1 in 100,000 on average. Vismodegib, an oral smoothened (SMO) inhibitor that blocks the activation of the sonic hedgehog (SHH) pathway, is used in patients with NBCCS. We present an interesting case of a 38-year-old female with Gorlin-Goltz syndrome and her response to vismodegib therapy over two and a half years. Read More

World Neurosurg 2020 Jan 9;133:324-330. Epub 2019 Oct 9.

Deparment of Radiology, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India.

Background: Gorlin-Goltz syndrome is a rare hereditary disease affecting multiple organ systems. Medulloblastoma is the most common intracranial malignancy in these patients, radiotherapy makes them more susceptible to intracranial meningioma. Here we report an intracranial meningioma without radiation exposure. Read More

Mol Genet Genomic Med 2020 Jan 2;8(1):e987. Epub 2019 Oct 2.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

Background: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly, and dysmorphisms. BCNS is mainly caused by mutations in PTCH1, an onco-suppressor gene that maps at 9q22.3 region. Read More

Orphanet J Rare Dis 2019 09 18;14(1):218. Epub 2019 Sep 18.

Department of Sense Organs, Faculty of Medicine and Odontology, Sapienza University of Rome, Rome, Italy.

Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Read More

Cleft Palate Craniofac J 2020 Feb 5;57(2):255-262. Epub 2019 Aug 5.

Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan.

Basal cell nevus syndrome (BCNS) is a rare genetic disorder that can be caused by mutation of multiple genes, including , , and , in an autosomal dominant manner. The symptoms include some craniofacial features such as keratocystic odontogenic tumors (KCOTs), macrocephaly, and cleft lip and/or palate. Although comprehensive orthodontic treatment is frequently required for some of these craniofacial deformities, there are few reports that show the outcomes of comprehensive orthodontic treatment. Read More

J Am Acad Dermatol 2019 Jul 30. Epub 2019 Jul 30.

Department of Dermatology, Maastricht University Medical Centre; GROW Research Institute for Oncology and Developmental Biology, Maastricht University.

JAMA Dermatol 2019 Jul 24. Epub 2019 Jul 24.

Department of Dermatology, Stanford University, Stanford, California.

J Stomatol Oral Maxillofac Surg 2020 Apr 20;121(2):146-149. Epub 2019 Jul 20.

Education Development Office, School of dentistry, Tehran University of Medical Sciences, Tehran, Iran.

Odontogenic lesions have been described in several syndromes. Despite multiple reports of ameloblastoma's association with various syndromes, it has not been added to the diagnostic criteria for any syndrome. Thus, the aim of this systematic review was gathering such cases' data. Read More

J Oral Maxillofac Surg 2019 Nov 21;77(11):2279-2284. Epub 2019 Jun 21.

Associate Professor, Department of Oral and Maxillofacial Surgery, UT Southwestern/Parkland Memorial Hospital, Dallas, TX.

Medulloblastoma is the most common childhood malignant brain tumor and is considered a minor criterion in the diagnosis of nevoid basal cell carcinoma syndrome (NBCCS). Metastasis of this primitive neuroectodermal tumor is most commonly neuraxial; however, extra-neuraxial metastases have been reported. Extra-neuraxial metastasis to the jaws is a rare occurrence, with only 8 cases previously reported in the literature. Read More

Eur J Cancer 2019 09 6;118:10-34. Epub 2019 Jul 6.

University Department of Dermatology, Marseille, France.

Basal cell carcinoma (BCC) is the most common malignant tumour in white populations. Multidisciplinary experts from the European Dermatology Forum, the European Association of Dermato-Oncology and the European Organization of Research and Treatment of Cancer collaborated to develop recommendations on diagnosis and treatment of BCC. A new classification into 'easy-to-treat (common) BCC and 'difficult-to-treat' BCC is proposed. Read More

Br J Dermatol 2019 09 1;181(3):447-448. Epub 2019 Jul 1.

Department of Dermatology, Hospital Infantil Universtario Niño Jesús, Menéndez Pelayo 65, 28009, Madrid, Spain.

Target Oncol 2019 06;14(3):253-267

Ameriderm Research, Ormond Beach, FL, USA.

Globally, basal cell carcinoma is the most commonly diagnosed cancer. While most cases are amenable to surgery, treatment options for advanced basal cell carcinoma, including locally advanced basal cell carcinoma and metastatic basal cell carcinoma, have proved more difficult. Recent advances regarding the role of hedgehog signaling in the pathogenesis of basal cell carcinoma and the identification of hedgehog pathway inhibitors have facilitated the development of treatment options with improved clinical outcomes. Read More

Appl Immunohistochem Mol Morphol 2019 Jun 24. Epub 2019 Jun 24.

Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre.

Background: Podoplanin is a transmembrane glycoprotein expressed on various normal or neoplastic cells. Some studies have shown that podoplanin promotes the migration and invasion of tumor cells. This study evaluated a podoplanin expression in Odontogenic Keratocysts (OKs) associated or not associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) and in Orthokeratinized Odontogenic Cysts (OOCs). Read More

Case Rep Dermatol Med 2019 14;2019:2387365. Epub 2019 May 14.

Division of Dermatology, Department of Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Becker nevus syndrome refers to a rare disorder comprising the typical pigmented lesion and its associated developmental abnormalities. Becker nevus itself is typically localized on the upper trunk, scapular or upper arm unilaterally; however, it can occasionally occur as multiple or bilateral lesions on any parts of the body. In this report, a rare case of multiple Becker nevi arranged in a unique checkerboard-like pattern is presented. Read More

SAGE Open Med Case Rep 2019 19;7:2050313X19849828. Epub 2019 May 19.

Department of Pathology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Odontogenic keratocysts make up 4%-12% of all odontogenic cysts. Most cysts are sporadic but sometimes they arise in the context of basal cell nevus syndrome (Gorlin syndrome). Most odontogenic keratocysts arise in the posterior region of the mandible, but they can occur anywhere in the jaw. Read More

Oral Dis 2019 Sep 4;25(6):1600-1607. Epub 2019 Jun 4.

Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China.

Objective: Odontogenic keratocysts (OKCs) are benign jaw lesions with high growth potential and propensity for recurrence. Our previous study revealed that PTCH1 mutations, which were frequently detected in sporadic OKCs, might be underestimated due to the masking effect of the stromal components within the tested tissues. We aimed to confirm these results in larger scale and further present the unbiased view of the genomic basis of sporadic OKCs except PTCH1. Read More

Child Neurol Open 2019 7;6:2329048X19844920. Epub 2019 May 7.

Department of Pediatric Neurology, Cohen Children's Medical Center at Northwell Health, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell.

Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a interstitial 7.0 Mb deletion of 9q21. Read More

J Pediatr 2019 08 15;211:152-158. Epub 2019 May 15.

Division of Pediatric and Adolescent Dermatology, Rady Children's Hospital, San Diego, CA; Departments of Dermatology and Pediatrics, University of California, San Diego School of Medicine, San Diego, CA.

Objective: To identify risk factors associated with nonmelanoma skin cancer (NMSC) occurrence and survival in children.

Study Design: This was a multicenter, retrospective, case-control study of patients <20 years of age diagnosed with NMSC between 1995 and 2015 from 11 academic medical centers. The primary outcome measure was frequency of cases and controls with predisposing genetic conditions and/or iatrogenic exposures, including chemotherapy, radiation, systemic immunosuppression, and voriconazole. Read More

J Hum Genet 2019 Aug 14;64(8):757-765. Epub 2019 May 14.

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.

Gorlin syndrome (GS) is a hereditary disorder with tumorigenicity, caused by constitutive hyperactivity of hedgehog signaling. Smoothened (SMO) antagonists have been effectively used in the clinical treatment of hedgehog signaling-related cancer. However, these treatments have led to problematic side effects, including severe adverse reactions and drug resistance from additional somatic mutations. Read More

Neurol India 2019 Mar-Apr;67(2):595-598

Department of Pathology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.

J Dermatolog Treat 2020 Jun 1;31(4):387-398. Epub 2019 May 1.

Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.

Smoothened receptor inhibitor vismodegib is indicated to treat locally advanced basal cell carcinoma (laBCC) and lesions in nevoid basal cell carcinoma syndrome (NBCCS). We treated 11 patients - including four NBCCS and seven laBCC patients - with vismodegib at our department. Complete remission was achieved in three cases, without relapse after discontinuation. Read More

J Obstet Gynaecol 2019 Aug 25;39(6):874-876. Epub 2019 Apr 25.

c Department of Cytology and Gynecological Pathology , PGIMER , Chandigarh , India.

Clin Exp Dermatol 2019 Dec 22;44(8):947-948. Epub 2019 May 22.

Department of Dermatology, Royal Victoria Hospital, Belfast, UK.

Med Mol Morphol 2019 Dec 17;52(4):235-237. Epub 2019 Apr 17.

Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and basal cell carcinomas (BCC) and accompanied by diverse phenotypes. The establishment of diagnosis lies on the identification of a heterozygous germline pathogenic variant in the patched homolog 1 gene (PTCH1). PTCH1 has alternative splicing and selective initial coding exon, leading to three types of encoding proteins (PTCHL, PTCHM and PTCHS). Read More

Klin Onkol 2019 ;32(2):124-128

Background: Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by a predisposition to various cancers. Clinicopathological findings of syndrome are very diverse and many symptoms begin to manifest in a certain period of life.

Case: The authors describe a case report of a man who, at the age of 34 years, presented to a dermatologist with multiple tumor lesions of the skin. Read More

J Oral Maxillofac Pathol 2019 Feb;23(Suppl 1):115-121

Department of Oral and Maxillofacial Surgery, Haldia Institute of Dental Sciences and Research, West Bengal University of Health Sciences, Haldia, West Bengal, India.

Gorlin-Goltz syndrome (GGS) also known as the nevoid basal cell carcinoma syndrome or the nevus-Bifid rib syndrome is an inherited autosomal dominant syndrome. It is caused by genetic alteration produced by a mutation in the "patched" tumor suppressor gene. This rare syndrome is characterized by basal cell carcinoma of skin, multiple odontogenic keratocyst and bifid ribs along with other features such as hypertelorism, sex organ abnormalities, palmar and/or plantar pits and calcification of falx cerebri. Read More

Hum Genome Var 2019 2;6:16. Epub 2019 Apr 2.

1Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Suita, Japan.

Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-old Japanese girl with a novel heterozygous nonsense mutation in who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root. Read More

J Am Acad Dermatol 2019 10 27;81(4):1028-1030. Epub 2019 Mar 27.

University of Connecticut Health Center Dermatology Department, University of Connecticut, Farmington, Connecticut. Electronic address: