The nevoid basal cell carcinoma syndrome is an autosomal dominant inherited disease, associated with PTCH gene mutation. Its presentation is polymorphous, being frequent to appear the clinical triad carcinomas basal c...The nevoid basal cell carcinoma syndrome is an autosomal dominant inherited disease, associated with PTCH gene mutation. Its presentation is polymorphous, being frequent to appear the clinical triad carcinomas basal cell, odontogenic cysts and skeletal abnormalities. Skin lesions are a very frequent reason for consultation in the paediatric age, being evaluated in most cases in primary care. Sometimes, patients need the intervention of other specialists to deep in a given area. The medical literature shows a fragmented view of the disease, possibly related to the low frequency of appearance of this syndrome, and by the need for intervention of not transversal knowledge specialist, which is why we feel interesting to evaluate the role of specialist who is developing the activity at primary care, with patients who require a multidisciplinary intervention.展开更多
Background Nevoid basal cell carcinoma syndrome （NBCCS） is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene...Background Nevoid basal cell carcinoma syndrome （NBCCS） is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene （PTCH）, considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study. Methods Genomic DNA was isolated from blood samples of all 12 members of this family. The mutated PTCH gene was screened by polymerase chain reaction amplification and direct sequencing. Results A new mutation of 3 bp （GAT deletion） was found in all seven affected members of this family. This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain （SSD）. This deletion was not found in any unaffected members of this family nor in 200 control samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.展开更多
Introduction:Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental malformations and carcinogenic activity.Multi-systemic anomalies may occur in this syndrome,such as od...Introduction:Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental malformations and carcinogenic activity.Multi-systemic anomalies may occur in this syndrome,such as odentogenic keratocysts of the mandible and postnatal tumors,especially multiple basal cell carcinoma.Case presentation:A 60 year old man presented with systemic plaques and nodules for more than 30 years.Cutaneous examination revealed that invasive erythema and black papules scattered on the face,trunk and limbs.He underwent extended surgical excision of lesions at multiple sites.No new lesions were found in the treated areas during a 3-year follow-up.Topical 5-aminolevulinic acid-mediated photodynamic therapy(ALA-PDT)was given as a palliative treatment for ulcerated tumors on the right lower eyelid and bleeding of the right temporal lesion.After application of ALA-PDT,the ulcers almost healed and the recurring hemorrhage ceased.Discussion:The management of multiple tumors in patients with nevoid basal cell carcinoma syndrome is extremely difficult,especially in the face.Surgical excision is the standard method,but the procedure can be applied in limited sites and may result in significant disfigurement and the difficulty of wound recovery.PDT can play a significant role in combination therapy for tumors that are extremely difficult to remove completely by surgical excision.Conclusion:We present a rare case manifested as multiple basal cell carcinoma and palmar pits who treated by surgery combined with topical 5-aminolevulinic acid-mediated photodynamic therapy.The combined therapy plays a complementary role in the treatment of nevoid basal cell carcinoma syndrome.展开更多
Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four n...Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations （c.2179delT, c.2824delC） and 4 somatic mutations （c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T）. Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.展开更多
文摘The nevoid basal cell carcinoma syndrome is an autosomal dominant inherited disease, associated with PTCH gene mutation. Its presentation is polymorphous, being frequent to appear the clinical triad carcinomas basal cell, odontogenic cysts and skeletal abnormalities. Skin lesions are a very frequent reason for consultation in the paediatric age, being evaluated in most cases in primary care. Sometimes, patients need the intervention of other specialists to deep in a given area. The medical literature shows a fragmented view of the disease, possibly related to the low frequency of appearance of this syndrome, and by the need for intervention of not transversal knowledge specialist, which is why we feel interesting to evaluate the role of specialist who is developing the activity at primary care, with patients who require a multidisciplinary intervention.
基金This work was supported by Key Project of National Natural Science Foundation of China （No. 30330580） and Shanghai Leading Academic Discipline Project （No. Y0203）. Acknowledgements： Thanks to all the members of this Chinese family who participated in this study. Thanks for the support of the Chinese National Human Genome Centre at Shanghai. China.
文摘Background Nevoid basal cell carcinoma syndrome （NBCCS） is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene （PTCH）, considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study. Methods Genomic DNA was isolated from blood samples of all 12 members of this family. The mutated PTCH gene was screened by polymerase chain reaction amplification and direct sequencing. Results A new mutation of 3 bp （GAT deletion） was found in all seven affected members of this family. This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain （SSD）. This deletion was not found in any unaffected members of this family nor in 200 control samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.
基金This work was supported by the National Natural Science Fund of China(No.81872216)PUMC Postgraduate Education and Teaching Reform Project in 2018(No.10023201801701)。
文摘Introduction:Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental malformations and carcinogenic activity.Multi-systemic anomalies may occur in this syndrome,such as odentogenic keratocysts of the mandible and postnatal tumors,especially multiple basal cell carcinoma.Case presentation:A 60 year old man presented with systemic plaques and nodules for more than 30 years.Cutaneous examination revealed that invasive erythema and black papules scattered on the face,trunk and limbs.He underwent extended surgical excision of lesions at multiple sites.No new lesions were found in the treated areas during a 3-year follow-up.Topical 5-aminolevulinic acid-mediated photodynamic therapy(ALA-PDT)was given as a palliative treatment for ulcerated tumors on the right lower eyelid and bleeding of the right temporal lesion.After application of ALA-PDT,the ulcers almost healed and the recurring hemorrhage ceased.Discussion:The management of multiple tumors in patients with nevoid basal cell carcinoma syndrome is extremely difficult,especially in the face.Surgical excision is the standard method,but the procedure can be applied in limited sites and may result in significant disfigurement and the difficulty of wound recovery.PDT can play a significant role in combination therapy for tumors that are extremely difficult to remove completely by surgical excision.Conclusion:We present a rare case manifested as multiple basal cell carcinoma and palmar pits who treated by surgery combined with topical 5-aminolevulinic acid-mediated photodynamic therapy.The combined therapy plays a complementary role in the treatment of nevoid basal cell carcinoma syndrome.
基金supported by Research Grants from the National Nature Science Foundation of China(30625044,30572048 and 30872900)Specialized Research Fund for the Doctoral Program of Higher Education(20050001110)
文摘Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations （c.2179delT, c.2824delC） and 4 somatic mutations （c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T）. Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.
