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.

Clinical and histopathological analysis of three cases of nevoid melanoma / 中华皮肤科杂志

Objective:To investigate clinical and histopathological characteristics of nevoid melanoma.Methods:A retrospective analysis was carried out on clinical and histopathological data collected from 3 patients with nevoid melanoma diagnosed in Department of Dermatology, Xijing Hospital from 2000 to 2020.Results:Among the 3 patients with nevoid melanoma, 2 were females and 1 was male. Skin lesions initially manifested as black macules and papules. After surgical resection, 2 patients developed new nodular lesions or recurrent skin lesions which enlarged into plaques. Histopathological examination showed proliferation of epithelioid melanocytes in the epidermis and dermis, with cytological atypia and some deeply stained nuclei. Immunohistochemical study revealed positive staining for Melan-A and S100 in tumor cells in the skin lesions, diffusely positive staining for HMB45 in dermal tumor cells, locally negative staining for HMB45 in the deep dermis, increased Ki67 proliferation index, and active expression of cyclin D1.Conclusion:Nevoid melanoma is easy to be misdiagnosed as pigmented nevi or seborrheic keratosis; when recurrence or metastasis occurs in patients with histologically diagnosed pigmented nevi, attention should be paid to the possibility of nevoid melanoma.

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.

Unveiling The Role Of Shh From Embryogenesis To Its Reactivation In Tumorigenesis:A Maxillofacial Perspective.

Sonic Hedgehog gene (SHH) plays a vital role in embryogenesis through its secreted protein sonic hedgehog protein (Shh). During embryogenesis, Shh acts as a morphogen controlling proximal and distant signaling in the specific development of tissue lineages, patterning, regulation of cell proliferation and suppression of tissue apoptosis. Shh also exerts its role in odontogenesis by determining the site of tooth bud formation, in tooth morphogenesis and root formation. The difference in the specific development of a region by Shh can be explained by its [a] 'Spatial gradient [b] the 'form' [c] Concentration gradient and [d] Temporal gradient. Shh signaling pathway has an extracellular and an intracellular component. A disruption of Shh pathway contributes to tumorigenesis of several cell types including those arising from odontogenic structures. This article reviews Shh from its formation in embryonic stages, its role in development and odontogenesis, to its reactivation in tumorigenesis and in specific to odontogenic pathologies.

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.

A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome.

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. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11‑year‑old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

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.

Nevoid Hyperkeratosis of the Nipple and Areola in a Middle-aged Man / 대한피부과학회지

No abstract available.

Hiperqueratosis nevoide bilateral de areola y pezón. presentación de un caso / Hyperkeratosis of the nipple and areola

La hiperqueratosis nevoide de areola y pezón es una entidad patológica de la dermatología escasamente presentada en la literatura. Descrita por primera vez en 1938 por Levy – Frankel,2 quien además establece una clasificación etiológica de la misma. En este trabajo se presenta un caso de hiperqueratosis nevoide bilateral de areola y pezón, y su tratamiento con galvanocauterio que da muy buenos resultados no solo estéticos sino primordialmente por la nula recidiva.

Hyperkeratosis of the nipple and the areola is a pathological entity of dermatology sparsely reported, first described in 1938 by Levy - Frankel, who established an etiological classification of that entity. In this paper a case of bilateral hyperkeratosis of the nipple and the areola and its successful treatment with galvanocautery surgery with no long-term recurrence is reported.

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.

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.

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.

Genetic mutations in Gorlin-Goltz syndrome.

Gorlin‑Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin‑Goltz syndrome, its genetic predisposition, diagnosis and management.

Unilateral Nevoid Telangiectasia Associated with Ipsilateral Melorheostosis

Melorheostosis is a rare disorder characterized by irregular, flowing hyperostosis in long bones, commonly described on radiographs as wax flowing down a candle. In addition to bony sclerosis, cutaneous manifestations overlying the involved bones have been reported including linear scleroderma, neurofibromatosis, and vascular and lymphatic malformations. Unilateral nevoid telangiectasia (UNT) is a rare primarily cutaneous condition characterized by linearly arranged small dilated blood vessels in dermatomal or Blaschkoid patterns on the skin. Here, we present the case of a nine-year-old Korean male with UNT associated with ipsilateral melorheostosis.

Seborrheic Keratosis of Areola Treated with Topical Calcipotriol Ointment / 대한피부과학회지

A synthetic analogue of calcitriol (1,25-dihydroxymitamin D3), has shown immunomodulatory effects as well as induction of cell differentiation and inhibition of cell proliferation. This agent has been widely used for psoriasis. We report a case of seborrheic keratosis of the left areola in a 33-year-old female who was treated with calcipotriol ointment. Because of the lesion's location and shape, it was difficult to try ablative methods. However, complete disappearance of the lesion was observed after 6 weeks of topical calcipotriol application. This case suggests that the calcipotriol ointment is effective in the treatment of seborrheic keratosis.

Linear Hyperpigmentation Along the Blaschko's Line: A Clinicopathologic Study / 대한피부과학회지

BACKGROUND: Many pigmentary disorders can be manifested as linear streaks of hyperpigmentation, along the Blaschko's line. These include progressive cribriform and zosteriform hyperpigmentation (PCZH) and linear and whorled nevoid hyperpigmentation (LWNH). There have been debates on the universally accepted diagnostic criteria differentiating these disease entities. OBJECTIVE: To determine the clinicopathologic characteristics of hyperpigmentation along the line of Blaschko and to examine the acceptability of PCZH or LWNH criteria as a diagnostic tool for differentiating these diseases. METHODS: A retrospective study was conducted on 13 patients who presented with linear hyperpigmentation along the Blaschko's line. The patients' clinicopathologic characteristics were analyzed and matched with the PCZH/LWNH diagnostic criteria. RESULTS: Age of onset widely ranged from birth to 61 years, but predominantly before the age of 4 years. The male-female ratio was 1:1.2. Trunk was the most common site of involvement. Histologic examination commonly showed a basal layer hyperpigmentation in all patients and pigmentary incontinence was observed in 2 patients. Four patients who satisfied all the diagnostic criteria for PCZH also fulfilled the diagnostic criteria for LWNH, except for the timing of onset. An additional 4 patients satisfied all the diagnostic criteria for LWNH and also fulfilled the diagnostic criteria for PCZH, except for the timing of onset. Excluding the age of onset criteria, the other 3 patients fulfilled both diagnostic criteria for PCZH and LWNH. CONCLUSION: These results demonstrate that PCZH and LWNH should not be considered as a different disease entity and that supports the idea that these are part of the same disease spectrum.

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.

A Case of Congenital Unilateral Nevoid Telangiectasia with Extensive Involvement / 대한피부과학회지

Unilateral nevoid telangiectasia is characterized by unilateral occurrence of telangiectases assigned to certain dermatomes. Histologically, numerous thin-walled dilated vessels are seen in the upper and mid dermis without endothelial cell proliferation. Although it may be congenital or aquired, only acquired forms have been frequently reported in association with physiologic states of estrogen increase or estrogenized pathologic states, such as chronic hepatic disease in alcoholism. We report a case of congenital unilateral nevoid telangiectasia with extensive involvement of C4-T2, L1-S3 dermatomes in a 3-year-old girl.