A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma / 中南大学学报(医学版)

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient's life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient's nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected. The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient's life quality is poor and the patient needs long-term individualized treatment.

Odontogenic keratocyst

@#A 37-year-old woman consulted for a slow-growing mass of one-year duration on the left side of the mandible with associated tooth mobility. Clinical examination showed buccal expansion along the left hemi-mandible from the mid-body to the molar-ramus region with associated mobility and displacement of the pre-molar and molar teeth. Radiographs showed a well-defined unilocular radiolucency with root resorption of the overlying teeth. Decompression and unroofing of the cystic lesion was performed. Received in the surgical pathology laboratory were several gray-white rubbery to focally gritty tissue fragments with an aggregate diameter of 1 cm. Histopathologic examination shows a fibrocollagenous cyst wall lined by a fairly thin and flat stratified squamous epithelium without rete ridges. (Figure 1) The epithelium is parakeratinized with a wavy, corrugated surface while the basal layer is cuboidal and quite distinct with hyperchromatic nuclei. (Figure 2) Based on these features, we signed the case out as odontogenic keratocyst (OKC). Odontogenic keratocysts are the third most common cysts of the gnathic bones, comprising up to 11% of all odontogenic cysts, and most frequently occurring in the second to third decades of life.1,2 The vast majority of cases occur in the mandible particularly in the posterior segments of the body and the ramus. They typically present as fairly large unilocular radiolucencies with displacement of adjacent or overlying teeth.1 If associated with an impacted tooth the radiograph may mimic that of a dentigerous cyst.2 Microscopically, the parakeratinized epithelium without rete ridges, and with a corrugated luminal surface and a prominent cuboidal basal layer are distinctive features that enable recognition and diagnosis.1,2,3 Occasionally, smaller “satellite” or “daughter” cysts may be seen within the underlying supporting stroma, sometimes budding off from the basal layer. Most are unilocular although multilocular examples are encountered occasionally.1 Secondary inflammation may render these diagnostic features unrecognizable and non-specific.2 Morphologic differential diagnoses include other odontogenic cysts and unicystic ameloblastoma. The corrugated and parakeratinized epithelial surface is sufficiently consistent to allow recognition of an OKC over other odontogenic cysts, while the absence of a stellate reticulum and reverse nuclear polarization will not favor the latter diagnosis.2,3 Odontogenic keratocysts are developmental in origin arising from remnants of the dental lamina. Mutations in the PTCH1 gene have been identified in cases associated with the naevoid basal cell carcinoma syndrome as well as in non-syndromic or sporadic cases.1,3 These genetic alterations were once the basis for proposing a neoplastic nature for OKCs and thus the nomenclature “keratocystic odontogenic tumor” was for a time adopted as the preferred name for the lesion.3,4 Presently, it is felt there is not yet enough evidence to support a neoplastic origin and hence the latest WHO classification reverts back to OKC as the appropriate term.1 Sekhar et al. gives a good review of the evolution of the nomenclature for this lesion.3 Treatments range from conservative enucleation to surgical resection via peripheral osteotomy.5 Reported recurrences vary in the literature ranging from less than 2% of resected cases up to 28% for conservatively managed cases.1,5 These are either ascribed to incomplete removal or to the previously mentioned satellite cysts - the latter being a feature associated with OKCs that are in the setting of the naevoid basal cell carcinoma syndrome.1,2,3 Thus, long term follow-up is recommended.5 Malignant transformation, though reported, is distinctly rare.

Basal cell nevus syndrome in a 56-year old Filipino female: A case report

Introduction@#Basal cell nevus syndrome (BCNS) (Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome) is a rare inherited multisystem and tumor-predisposing disorder caused by the patched tumor suppressor gene mutations and suppressor of fused gene. Its diagnosis follows a set of criteria based on specific cutaneous features and radiologic findings. Although an autosomal dominant disorder with a high degree of penetrance, BCNS has variable expression making its diagnosis difficult. The limited epidemiologic data among Asians especially in the Philippines hamper early detection or cause frequent misdiagnosis of the condition.@*Case report@#A 56-year-old Filipino female with Fitzpatrick skin type V presented with early onset multiple basal cell carcinomas and bilateral palmoplantar pits. Radiologic investigation reveals odontogenic keratocyst, calcification of the falx cerebri, bridging of the sella turcica, bifid/splayed ribs and vertebral anomalies. The patient exhibits coarse facial features and bilateral cataracts. Cranial computed tomography scan shows cerebrocerebellar atrophy with ventricular dilatation. Management included wide excision of the nodular basal cell carcinomas (BCC), application of 5-flourouracil cream on the superficial BCC and electrodessication and curettage of the smaller lesions. Oral acitretin was also prescribed.@*Conclusion@#This is a case that highlights the approach to diagnosis, clinical features and management of BCNS in a Filipino patient. Since various phenotypic presentations may exist among dark-skinned individuals, early diagnosis poses a challenge among physicians. Epidemiologic and prevalence studies among Filipinos may be done to aid in the diagnosis and early management of this rare genodermatosis.

Clinical characteristics and genetic analysis of nevoid basal cell carcinoma syndrome with epilepsy / 上海交通大学学报（医学版）

Objective • To investigate the clinical and genetic characteristics of nevoid basal cell carcinoma syndrome (NBCCS) combined with epilepsy. Methods • The clinical data of a proband with the symptom of epileptic seizures in Department of Neurology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine was retrospectively analyzed. Facial nevoid was resected and hematoxylin-eosin (H-E) staining was examined. Wholeexome sequencing was performed on the blood DNA of the proband and his family members. Sanger sequencing was used for co-segregation analysis. Results • The proband was highly suspected of having NBCCS according to the clinical diagnostic criteria of NBCCS. H-E staining showed typical pathological features of basal cell carcinoma. Heterozygous deletion at c.3364_3365del base in the exon 20 of patched 1 (PTCH1) gene was found in this family. Conclusion • The heterozygous deletion in the exon 20 of PTCH1 gene (c.3364_3365del) may be a potential hot spot mutation for NBCCS, especially in patients combined with neurological manifestations, such as epilepsy.

Morpheaform Basal Cell Carcinoma: A Case Report with Review of Literature

Basal cell carcinoma (BCC) is the most frequently occurring skin cancer. Most cases are not life threatening, as very small proportions of BCCs metastasise. However, a high tendency to recurrence makes characterising BCCs and tumour margin areas obligatory. It will assist in better understanding their pathogenesis and in more effective treatment through prevention of recurrence and second primary disease. Various morphological subtypes have been described, nodular BCC being the most common type. Morpheaform or sclerosing BCC is a rare but high risk variant of BCC. One such case of Morpheaform, BCC in a 30-year old female patient is reported here to emphasise the nature and early diagnosis of this malignancy.

Síndrome de carcinoma basocelular nevoide con agenesia de cuerpo calloso, mutación en PTCH1 y ausencia de carcinoma basocelular

El síndrome del carcinoma basocelular nevoide (SCBCN) o de Gorlin-Goltz es un raro desorden autosómico dominante con un amplio espectro de manifestaciones clínicas. El signo cardinal es la presencia de múltiples carcinomas basocelulares (CBCs) y su ausencia demora el diagnóstico. Presentamos un adolescente de 14 años con diagnóstico de SCBCN por la presencia de queratoquistes odontogénicos, hiper­telorismo, macrocefalia y agenesia del cuerpo calloso pero sin lesiones cutáneas. La madre, de 43 años, tiene diagnóstico de SCBCN y no presenta CBCs. Para completar el estudio se realizó secuenciación bidireccional y Multiplex Ligation dependent Probe Amplification (MLPA) en sangre periférica para buscar mutaciones en PTCH1, principal gen responsable del síndrome. Se encontró una mutación germinal novel en el paciente y la madre: una duplicación de 25 pb en el exón 10 (c.1375dupl25bp). El análisis bioinformático predijo un corrimiento del marco de lectura y un codón stop prematuro, que produciría una proteína trunca más corta que lo normal. Nuestros resultados sugieren que el estudio clínico y genealógico completo con análisis genético es fundamental para la detección temprana de casos como el presente.

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz syndrome is a rare autosomal dominant disorder, mainly due to PTCH1 gene mutations, that comprises a broad spectrum of clinical manifestations. The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and corpus callosum agenesia, but with absence of skin lesions. His 43 years old mother has NBCCS diagnosis and no history of BCCs. For a deeper study, PTCH1 mutation screening from peripheral blood samples were performed by both bidirectional sequencing and multiplex ligation dependent probe amplification (MLPA) techniques. The proband and his mother carry 25 pb duplication in exon 10 (c.1375dupl25bp) that causes a reading frameshift with a premature stop codon. Bioinformatics analysis predicted that this mutation results in a truncated protein shorter than normal. Our results suggest that complete clinical and genealogical studies accompanied by genetic analysis are essential in the early detection of the NBCCS cases such the one presented here.

Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases / 대한악안면성형재건외과학회지

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.

Mutation analysis of the PTCH1 gene in a pedigree with nevoid basal cell carcinoma syndrome / 中华皮肤科杂志

Objective To analyze mutations in the PTCH1 gene in a pedigree with nevoid basal cell carcinoma syndrome (NBCCS).Methods Blood samples were collected from a 58-year-old male proband with NBCCS (Ⅱ 5),his brothers (Ⅱ 1 and Ⅱ 3) and son (Ⅲ4),and 50 unrelated healthy human controls.DNA was extracted from these blood samples.PCR and direct DNA sequencing were performed to determine mutation sites in the PTCH1 gene.According to the mutation sites,allele-specific oligonucleotide primers were designed and used to confirm the pathogenic mutations in this pedigree through PCR.Results A nonsense mutation (c.2137C),which leads to the substitution of CAG by TAG with the generation of a premature termination codon (Q714X),was identified in exon 14 in one allele of the PTCH1 gene in the proband and his son,but in none of the healthy human controls.Conclusion The nonsense mutation (c.2137C ＞ T) in the PTCH1 gene may be a specific mutation causing the clinical symptoms in the patient with NBCCS.

Sporadic Cutaneous Keratocyst without Nevoid Basal Cell Carcinoma Syndrome: Report of 1 Case

A cutaneous keratocyst is very rare and is ordinarily associated with nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome. NBCCS is a rare autosomal-dominant disorder that results from the mutation in the patched homologue 1 (PTCH1) gene located on chromosome 9q22.3, with high penetrance and variable expressivity. NBCCS demonstrates multisystem manifestations such as multiple basal cell carcinomas in early age, jaw cysts and pits of the hands and feet. Cutaneous keratocysts are characteristically lined by festooned keratinized squamous epithelium with parakeratosis. The cystic wall contains neither granular cell layer nor skin appendages. To the best of our knowledge, only two cases of cutaneous keratocysts not associated with NBCCS have been reported to date. We report one another case of a histologically confirmed cutaneous keratocyst in a 50-year-old female without a family history and clinical features of NBCCS.

A Case of Multiple Basal Cell Carcinomas in Nevoid Basal Cell Carcinoma Syndrome

No abstract available.

Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family

The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously. The diagnostic criteria for nevoid basal cell carcinoma syndrome include multiple basal cell carcinomas, palmoplantar pits, multiple odontogenic keratocysts, skeletal anomalies, positive family history, ectopic calcification and neurological anomalies. We report a brother and sister who were both diagnosed with nevoid basal cell carcinoma syndrome.

A Case of Basal Cell Nevus Syndrome with Odontogenic Keratocyst / 대한이비인후과학회지

Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a cancer predisposition syndrome characterized by multiple basal cell carcinomas and diverse developmental defects. Recently, we experienced a case of odontogenic keratocysts in a 13-year-old boy who was finally diagnosed as having nevoid basal cell carcinoma syndrome by genetic study. The purpose of this paper is to report odontogenic keratocyst as the first manifestation of nevoid basal cell carcinoma syndrome and to emphasize that one must consider this syndrome as a possible diagnosis in all cases of odontogenic keratocysts.

A Case of Nevoid Basal Cell Carcinoma Syndrome with Meningioma and Sclerosing Stromal Tumor of the Ovary / 대한피부과학회지

Nevoid basal cell carcinoma syndrome is inherited as an autosomal dominant trait with variable expressivity. This is characterized by multiple basal cell carcinomas, skeletal abnormalities, ectopic calcification, palmoplantar pits, central nervous system abnormalities, and multiple odontogenic keratocysts of the jaw. We report a case of nevoid basal cell carcinoma syndrome occurring in 14 year old girl, she had multiple basal cell carcinomas, spina bifida in the cervical vertebrae, forked ribs, hypertelorism, ectopic calcification of falx cerebri, palmoplantar pits, medulloblastoma, meningioma and sclerosing stromal tumor of the ovary. Her father had the same clinical features.

Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Literature Review / 대한이비인후과학회지

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome, shows autosomal dominant pattern of inheritance with variable expressivity. The most important features are the occurrence of basal cell carcinoma and odontogenic keratosis. Recently, we experienced a case of nevoid basal cell carcinoma syndrome with multiple odontogenic keratocysts, basal cell carcinoma on cheek, cerebral calcification and palmar pits. We report this case with literature review.

A Case of Nevoid Basal Cell Carcinoma Syndrome with Multiple, Symmetrically Distributed Basal Cell Carcinomas / 대한피부과학회지

Nevoid basal cell carcinoma syndrome is a rare inherited disorder characterized by multiple cutaneous basal cell carcinoma, pits of the palms and soles, cysts of the jaws, and ectopic calcification of cranial membranes. The patient was a 66 year old female. She complained of multiple, symmetrically distributed black-colored papules on the both sides of the neck. On physical examination, multiple pits were detected in the palms and soles. The histopathologic findings of the papules showed variable shaped and sized tumor nests composed of basaloma cells. On PNS CT for search of metastasis of the cancer, odontogenic keratocyst was detected at the Lt. alveolar process of maxilla by accident. We diagnosed her nevoid basal cell carcinoma syndrome and the lesions on both sides of the neck were removed completely.

A Case of Nevoid Basal Cell Carcinoma Syndrome / 대한피부과학회지

Nevoid basal cell carcinoma syndrome (basal cell nevus syndrome) is characterized by multiple basal cell carcinomas, cysts of jaw and several other congenital anomalies on skeletal, neurologic and reproductive system. It is inherited as an autosomal dominant trait. We found a 12-year-old girl with multiple basal cell carcinomas, bifid ribs, palmar pits, ophthalmic hypertelorism, ectopic calcification of falx cerebri and medulloblastoma and diagnosed it as nevoid basal cell carcinoma syndrome. Her 2-year-old younger sister showed no specific abnormality. We dessicated the basal cell carcinomas and nevi which were suspected to perform malignant transformation with carbon dioxide laser, and are to continue the follow-up study and treatment for patient and her family members.

A Case of nevoid Basal Cell Carcinoma Syndrome with Basal Cell Carcinoma developing in a Palmar Pit / 대한피부과학회지

Nevoid basal cell carcinoma syndrome is a genetically determined disorder characterized by multiple basal cell carcinoma, palmoplantar pits and defects in other organs or tissues. Basal cell carcinoma may arise any sit of body. But infrequently typical basal cell carcinomas arise from the depressed epidermis which forms the base of the pits on the hands and feet. The patient was a 12 years old girl who developed multiple black-colored papules on the face and a dark reddish to black-colored pit over the palm and skin-colored depressed circumscribed pits on the plantar surface of feet. she also had an odontogenic cyst in the right maxilla, epidermal cyst on the trunk and mutiple intradermal nevi on the face. But the family history was not present. The histopathologic findings of the depressed pit of the palm showed a crater on the stratum corneum, and a well marginated tumor nest of basal cell carcinoma showing keratotic feature on the center of the lesion and reticulated feature on the periphery.

Nevoid Basal Cell Carcinoma Syndrome: Report of a case

Nevoid basal cell carcinoma syndrome (NBCC syndrome) is a very rare autosomal dominant dermatopathy characterized by a primary triad with variable secondary anomalies. The chief features include nevoid basal cell carcinomas, one or more skeletal anomalies, and multiple odontogenic keratocysts of the jaw. We report a case of NBCC syndrome in a 43-year old male who had multiple nevoid basal cell carcinomas on the retroauricular area, face, chest wall, and back, which have been present since childhood. Skull x-rays revealed relatively well-circumscribed cystic, radiolucent lesions on bilateral rami of both upper and lower jaws, calcification of the falx cerebri, agenesis of the right coronoid process, and a bifid chin. The cystic lesions were histologically confirmed as keratocysts.