痣样基底细胞癌综合征

报告1例痣样基底细胞癌综合征.患者女,45岁.左足背无痛性红斑4个月余.皮肤科检查:左足背一3 cm×4 cm红色斑块,表面糜烂、结痴.左耳后一黄豆大暗红色丘疹,质地软.左胴窝一直径0.5 cm的淡红色斑片.双掌、跖部可见密集针尖大点状凹陷.皮损组织病理检查示基底细胞癌.诊断:痣样基底细胞癌综合征.     

痣样基底细胞癌综合征一例

痣样基底细胞癌综合征是一种罕见的常染色体显性遗传病,以泛发性皮肤基底细胞癌和多器官发育异常为主要临床特征。本文报告1例痣样基底细胞癌综合征患者,并结合相关文献对该病的发病率、发病机制、诊断标准、治疗方法等进行讨论。     

Nevoid basal cell carcinoma syndrome in a person with dark skin

The expression of basal cell carcinoma tumors of the skin is blunted in individuals with dark skin and nevoid basal cell carcinoma syndrome. The occurrence of multiple basal cell carcinomas in these patients is a relatively rare finding. We describe a 25-year-old man of partial African-American descent with constitutive Fitzpatrick type IV pigmented skin and the clinical stigmata of nevoid basal cell carcinoma syndrome including histopathologic evidence of 11 basal cell carcinomas.     

Unusual Cystic Scalp Lesions in Gorlin Syndrome: A Brief Report

Abstract: Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare, autosomal dominant syndrome that is known to have variable expressivity in multiple organ systems. We describe the case of a young male child with nevoid basal cell carcinoma syndrome and scalp lesions, including a branchial cleft cyst with respiratory epithelium and a rudimentary meningocele. These are both new, previously unreported findings, possibly associated with nevoid basal cell carcinoma syndrome.     

The nevoid basal cell carcinoma syndrome

126 basal cell carcinomas from 7 patients with nevoid basal cell carcinoma syndrome were examined histologically and -using a scoring system - compared with 54 solitary basal cell carcinomas. The solid subtype formed 78.9% of all tumors in the head and neck region and 48.9% of those located elsewhere. A broader spectrum of histological subtypes was noticed in tumors from patients with the syndrome. As multiple, keratizing odontogenic and epidermal cysts are often seen in the nevoid basal cell carcinoma syndrome it was interesting to see that multiple keratinizing cysts within skin tumors were recorded more often in this group.     

Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy

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.     

痣样基底细胞癌综合征一例PTCH1基因突变研究

目的：检测1例痣样基底细胞癌综合征(Gorlin综合征)患者的PTCH1基因突变。方法：收集患者临床资料,提取患者及其3位相关亲属（患者的父母及妹妹）外周血DNA,采用PCR扩增PTCH1基因编码区的全部外显子及其侧翼序列。同时以200例无关健康者外周血基因组DNA作对照。 结果：患者的PTCH1基因发生c.590G>A杂合突变,导致氨基酸发生p.W197X改变。患者的父母、妹妹及200例健康对照未见该基因突变位点。结论：PTCH1基因p.W197X突变很可能是本例患者Gorlin综合征的病因。     

Síndrome del nevo basocelular: experiencia en un hospital pediátrico

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system.We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%).We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.     

Nevoid basal cell carcinoma syndrome or multiple hereditary infundibulocystic basal cell carcinoma syndrome?

We present a case of nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, or basal cell nevus syndrome, which clinically follows a course more consistent with multiple hereditary infundibulocystic basal cell carcinomas or multiple hereditary trichoepitheliomas. The following article describes the case in detail and gives an overview of other genodermatosis, which were initially considered in the differential and which may be linked pathogenetically.     

A case of cutaneous myiasis caused by Wohlfahrtia magnifica

Myiasis is caused by the invasion of tissues or organs of man or animals by dipterous larvae. The disease is infrequent in Turkey; it is observed particularly in people with some predisposing factors. A 46-year-old male farmer with nevoid basal cell carcinoma syndrome (NBCCS) presented with the complaint of a blood-tinged discharge and pain in the left frontal-temporal region for three days. Physical examination revealed live maggots in the ulcerous wound resulting from basal cell carcinoma. The larvae were removed with forceps, and the wound was locally dressed with povidone-iodine. The maggots were identified as the third instar larvae of Wohlfahrtia magnifica.     

Drug holiday approach for Vismodegib treatment in patients with nevoid basal cell carcinoma syndrome: Three cases from real clinical practice

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.     

Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches

We report a case of an increasing number of discrete patches of darkly pigmented terminal hair in a patient with nevoid basal cell carcinoma syndrome. This case adds to a small case series of three patients which have previously reported this observation. We report this case to highlight hairy patches as an important clinical feature associated with nevoid basal cell carcinoma syndrome.     

Basal cell nevus syndrome: clinical and molecular review and case report

Basal cell nevus syndrome (BCNS), also referred to as nevoid basal cell carcinoma syndrome or Gorlin–Goltz syndrome, was first described by Gorlin and Goltz in 1960 as an autosomal dominant disorder characterized by the early appearance of multiple basal cell carcinomas (BCCs), keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. The genesis of this cancer's etiology in relation to BCNS was unclear until a few years ago when molecular analysis studies suggested a relationship between BCC and the loss‐of‐function mutations of the patched gene (PTCH) found on chromosome arm 9q. PTCH inhibits signaling by the membrane protein Smoothened (Smo), and this inhibition is relieved by binding sonic hedgehog (SHH) to PTCH. We describe a patient with multiple BCCs associated with x‐ray anomalies of BCNS and review the basis of the SHH signaling pathway and clinical aspects of BCNS.     

Multiple infundibulocystic basal cell carcinomas in association with human immunodeficiency virus

Infundibulocystic basal cell carcinoma (IBCC) is a relatively recently described variant of basal cell carcinoma that is controversial and not universally accepted. Excluding cases of nevoid basal cell carcinoma syndrome, IBCC usually presents as a small, solitary, superficial lesion on the face of older persons. There have been previous reports of diffusely distributed, multiple similar lesions, but there is disagreement about the diagnosis in these cases. We present a case of a 43-year-old man with multiple papular lesions which we believe represent IBCC in the setting of infection with the human immunodeficiency virus (HIV).     

Microscopically Controlled Surgical Excision Combined with Ultrapulse CO2 Vaporization in the Management of a Patient with the Nevoid Basal Cell Carcinoma Syndrome

Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by multiple basal cell carcinomas, skeletal abnormalities and sometimes mental retardation. The large number of tumors, which are often disfiguring, presents extreme difficulties in the treatment of these patients. Microscopically controlled excision, compared to other modalities (radiation therapy, photodynamic therapy, intralesional interferon alpha-2b) offers the highest cure rate. However, because of the large size and involvement of wide areas of the skin, this approach is sometimes impractical. The ultrapulse CO₂ laser with high energy and short pulses achieves char-free ablation of the tumors, bloodless surgical field, minimal nonspecific thermal damage, rapid healing and diminished postoperative pain. Also, a number of lesions can be removed in a single session. We present a 48-year-old man with a 6.5 × 4.5 cm large basal cell carcinoma involving the anterior abdomen and navel area. The central thick portion of the tumor was resected by microscopically controlled excision with 3 stages, and wide thinner peripheral crescentic plaque vaporized with ultrapulse CO₂ laser. The laser settings were 300 mJ energy/pulse and 100 W average power, which corresponds to the fluence of 7.5 J/cm². Computerized pattern generator (ultrascan handpiece) was adjusted to patterns of 3 (circle) and 1 (square) with sizes varying from 5 to 7, and density of 9 (60% overlapping). The tumor was vaporized with 6 passes, all the way to deep reticular dermis. A fifteen month-follow up disclosed no recurrent disease. Subsequent biopsies revealed only a scar with postinflammatory hyperpigmentation. Our experience indicates that combined treatment with microscopically controlled excision and ultrapulse CO₂ laser ablation is a suitable modality for the large tumor plaques involving concave and convex areas of the skin respectively. Microscopically controlled excision of thicker, concave portions of basal cell carcinoma plaques, where CO₂ laser surgery is less feasible, presents an effective addition that renders this combined modality a successful method for the treatment of nevoid basal cell carcinoma syndrome.     

Unilateral Basal Cell Carcinomas: An Unusual Entity Treated with Photodynamic Therapy

Background

Unilateral localized basal cell carcinomas are an uncommon finding that presents both a diagnostic and therapeutic challenge. Exclusion of unilateral nevoid basal cell carcinoma syndrome is indicated. There are few reports in the literature regarding this entity and even less regarding therapeutic strategies.

Objective

We present a patient with unilateral localized basal cell carcinomas who was successfully treated with photodynamic therapy.

Methods

Photodynamic therapy was started using Levulan^® Kerastick^® as previously described. The topical solution was applied to the patient’s back and illuminated the following day via the BLU-U Blue Light Illuminator.

Results

The patient tolerated the procedure well and without complications. The patient had an excellent therapeutic response with no clinically apparent basal cell carcinomas for 18 months.

Conclusions

We report a patient with unilateral basal cell carcinomas successfully treated with photodynamic therapy. This uncommon entity represents a diagnostic challenge in its inherent absence of the classic clinical and radiographic findings of nevoid basal cell carcinoma syndrome. Like nevoid basal cell carcinoma syndrome, unilateral basal cell carcinomas poses a therapeutic challenge with the sheer number of cutaneous tumors. The use of photodynamic therapy carries a proven therapeutic efficacy, a low rate of adverse events and excellent cosmesis.     

Apocrine poroma: a distinctive case in a patient with nevoid basal cell carcinoma syndrome

Traditionally, poromas have been classified as eccrine neoplasms, but several recent reports of poroid tumors with sebaceous, follicular, and apocrine differentiation have challenged this idea. In support of alternative differentiation, a case of an "apocrine" poroma is reported in a 19-year-old man with the nevoid basal cell carcinoma syndrome. A papule on the right cheek, thought clinically to be a basal cell carcinoma, was excised. Anastomosing lobules of small uniform basaloid (poroid) cells formed small ductular structures lined by eosinophilic cuticles and extended into the superficial reticular dermis. The neoplasm originated from follicular infundibula and was surrounded by a myxoid stroma. Focally, primitive hair bulb and papillae differentiation was present, and some of the ducts were lined by cells suggesting decapitation secretion. The histologic pattern and the common embryologic origin of the folliculosebaceous-apocrine unit support apocrine differentiation of this tumor. The association with the nevoid basal carcinoma syndrome appears to be unique. This case, in addition, demonstrates overlapping features with the infundibulocystic type of basal cell carcinoma commonly seen in the basal cell nevus syndrome.     

Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies

BACKGROUND: Linear unilateral basal cell nevus represents a linear collection of macules and papules histologically similar to basal cell carcinoma but with benign clinical behavior. We describe a patient who initially presented at the age of 6 months with a unilateral linear basal cell nevus on the right flank. The differential diagnosis included the nevoid basal cell carcinoma syndrome. Constitutional PTCH mutations are causative of the nevoid basal cell carcinoma syndrome, and somatic PTCH mutations are found in the vast majority of basal cell carcinomas. Somatic SMO mutations have also been found in some basal cell carcinomas. METHODS: Histologic examination of the lesions is performed. Short tandem-repeat molecular analysis at the PTCH locus and sequencing of PTCH and SMO genes is performed. RESULTS: Histologic examination revealed features initially indistinguishable from basal cell carcinoma. Short tandem-repeat DNA analysis did not reveal loss of heterozygosity at the PTCH locus. DNA sequencing of both the PTCH and the SMO genes from the patient's lesions revealed neither inactivating mutations of PTCH nor activating mutations of SMO. CONCLUSION: Molecular examination indicates that the PTCH and SMO genes are not involved in the pathogenesis of the patients' congenital linear unilateral basal cell nevus. Furthermore, we discuss the relationship between linear basal cell nevus and basaloid follicular hamartoma.     

Cutaneous keratocysts of nevoid basal cell carcinoma syndrome

Four cysts were removed from two unrelated patients with nevoid basal cell carcinoma syndrome. Multiple sections from each cyst were studied. Two cysts showed histologic features similar to keratocysts that occur in the jaws of patients with this syndrome. The cysts were lined by a festooned epithelium consisting of two to five layers of squamous cells that formed keratin without the presence of a granular cell layer. One cyst contained some lanugo hair and a small bud of follicular epithelium. This cyst was therefore similar to cutaneous steatocysts but did not have an identifiable sebaceous component. The second cyst was devoid of hair and adnexal structures and was indistinguishable from a jaw keratocyst. Two other cysts were typical epidermoid (infundibular) cysts. Although speculative, it is likely that some cutaneous cysts in patients with nevoid basal cell carcinoma syndrome are identical to jaw keratocysts and may be another cutaneous marker for this disease complex.     

Clinical and genetic study in 22 patients with basal cell nevus syndrome

BACKGROUND: Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental abnormalities and cancer predisposition. The PTCH 1 gene, the human homolog of the Drosophila segment polarity gene patched, has been shown to be involved in the development of nevoid basal cell carcinoma syndrome. PTCH 1 is mapped to chromosome 9q22.3. The aim of the present study was to report on clinical and genetic characteristics in patients followed for nevoid basal cell carcinoma syndrome and to compare them to the data in the literature. PATIENTS AND METHODS: Screening for PTCH 1 mutations was done in 22 patients followed between 1981 and 2003 for clinical suspicion of nevoid basal cell carcinoma syndrome. Clinical and radiological data were reviewed retrospectively from records. Genetic analysis was performed using blood samples after patient informed consent was obtained. When possible, DNA was also analyzed from the parents of patients in whom PTCH 1 mutations were found. RESULTS: All patients had developed basal cell carcinomas: 45% palmar and plantar pitting, 62% jaw cysts and 66% calcification of falx cerebri. Medulloblastomas and meningiomas were the most common associated tumors. PTCH 1 mutations were identified in 13 patients: 6 familial cases, 3 sporadic cases and for 4 patients, it was not possible to conclude. Nine different new germ-line mutations were identified. DISCUSSION: Genetic analysis allows molecular confirmation of diagnosis in about half of all patients. Early diagnosis is essential for detection of clinical and radiological manifestations in young patients and for provision of advice concerning protection of the skin from the sunlight.