共查询到20条相似文献,搜索用时 31 毫秒
1.
Nakajima K Nakano H Takiyoshi N Rokunohe A Ikenaga S Aizu T Kaneko T Mitsuhashi Y Sawamura D 《Dermatology (Basel, Switzerland)》2008,217(1):58-62
Papillon-Lefèvre syndrome (PLS) is a rare autosomal-recessive genodermatosis characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is quite rare. Here, we report on a 51-year-old Japanese woman with PLS associated with recurrent malignant melanoma (MM). Mutation analysis of the cathepsin C gene revealed that the proband was homozygous for a missense mutation, c.415G-->A, which is predicted to result in the amino acid substitution p.G139R. Including our case, 4 families have been described as having PLS with MM, 3 of which are Japanese, implying a high incidence of melanoma development in Japanese PLS patients. We suggest that hereditary palmoplantar keratoderma (PPK) in Japanese patients might be predisposed to MM. A literature review revealed that in 18 cases of MM-associated PPK, 13 (76%) were Japanese, suggesting a high incidence of MM in Japanese PPK patients. This tendency might be attributable to the high frequency of acral lentiginous melanoma in Japanese subjects, in contrast to a lower frequency of this subtype in Caucasians. 相似文献
2.
Abstract: Palmoplantar keratodermas (PPK) are a diverse group of disorders. We report a boy with PPK, grayish-blue hyperkeratotic lesions on the lips and peri-oral area, opacities on the lower portions of the corneas, mutilation of his right auricle and many other skin lesions. 相似文献
3.
Palmoplantar keratoses and Bowen's disease in a Vietnam veteran: Could Agent Blue be implicated?
下载免费PDF全文
![点击此处可从《The Australasian journal of dermatology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Armand B Cognetta Jr Christopher M Wolfe Alexander T Herbst 《The Australasian journal of dermatology》2016,57(2):e66-e68
Agent Blue was an arsenical herbicide used extensively in the Vietnam War. Arsenic is one of the known causes of acquired palmoplantar keratoderma (PPK). The most common manifestation of arsenic exposure in susceptible individuals is bilateral palmoplantar hyperkeratosis. We report a 67‐year‐old man with no known prior exposure to arsenic in the USA or family history of PPK who developed multiple squamous cell carcinoma in situ (SCCIS) and palmoplantar hyperkeratotic lesions beginning 23 years after service in Vietnam. The SCCIS were located on the trunk and extremities in both sun‐exposed and non‐sun‐exposed sites and his palmoplantar lesions were diagnosed concurrently with his SCCIS. He has continued to develop SCCIS since his first visit to our clinic 25 years ago. 相似文献
4.
中国汉族人5家系40例点状掌跖角化病临床及遗传特点分析 总被引:1,自引:1,他引:1
目的了解中国汉族人点状掌跖角化病(punctate,palmop lantar keratoderm a)的临床表型和遗传学特点。方法对收集的1例点状掌跖角化病家系进行系统的临床表型和遗传学特点的分析,并将结果与国内报道的其他4例点状掌跖角化病家系进行对比分析。结果①点状掌跖角化病在家系中的传递符合常染色体显性遗传模式;②中国汉族人群中点状掌跖角化病的临床表型特征为点状角化丘疹不规则的分布于掌跖部;③发病年龄跨度较大,可从十几岁至五十岁左右;④大多数家系存在遗传早现现象(antic ipation);⑤同一家系中或不同家系之间患者的表现度(expressivity)可存在明显差异。结论点状掌跖角化病是一种具有高外显率的常染色体显性遗传性皮肤病,临床表型为点状角化丘疹不规则的分布于掌跖部,但不同患者表现度可存在明显差异。 相似文献
5.
Akasaka E Nakano H Nakano A Toyomaki Y Takiyoshi N Rokunohe D Nishikawa Y Korekawa A Matsuzaki Y Mitsuhashi Y Sawamura D 《The British journal of dermatology》2011,165(6):1290-1292
The palmoplantar keratodermas (PPKs) are a large group of genodermatoses comprising nearly 60 genetically distinct diseases. They are characterized by hyperkeratosis on the palms and soles with or without extrapalmoplantar hyperkeratotic lesions. Focal PPK is one of the hallmarks of pachyonychia congenita, a rare autosomal dominant disorder resulting from mutations in the keratin genes KRT6A, KRT6B, KRT16 or KRT17. Recently, in-frame deletion mutations of KRT6C have been identified in three families with focal PPK with slight or no nail changes. We report here a novel KRT6C mutation identified in a Japanese family with PPK with phenotypic heterogeneity, presenting with not only focal but also diffuse hyperkeratosis. The proband had diffuse hyperkeratosis on the soles and small focal hyperkeratoses on the palms, while the two other affected individuals showed focal hyperkeratoses on the soles. All three patients were heterozygotes for c.1414G>A in KRT6C, predicted to result in p.Glu472Lys. These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C. 相似文献
6.
YOKO ISHIHARA M.D. KAZUHIKO MATSUMOTO M.D. Ph. D. SHIGEO KAWACHI M.D. Ph. D. TOSHIAKI SAIDA M.D. Ph. D. 《International journal of dermatology》1993,32(1):44-47
Background. The nail area is commonly affected by malignant melanoma. The prognosis of malignant melanoma of the nail is poor, becuase at the time of diagnosis most lesions are in the advanced stage. Correct diagnosis of early lesions could improve the prognosis. Methods. For 3 years, all patients with nail pigmentation at the dermatology clinic were screened for five specific criteria for the diagnosis of early lesions of malignant melanoma. Histologic examination was performed on 10 of 29 lesions. Results. Five of the 29 lesions were advanced malignant melanoma, easily diagnosed clinically. Two of the remaining 24 lesions fulfilled most of our clinical criteria of early malignant melanoma of the nail apparatus; that is, they appeared as melanonychia striata during adulthood, were wide in breadth measuring 9 and 11 mm, and showed variegated shades of brown. Periungual pigmented macule (Hutchinson's sign) was observed in one of the two cases. Total resection of the lesions was performed, followed by skin grafting. Conclusions. Histologically, an increased number of atypical melanocytes, mainly arranged as solitary units, were observed only in the epithelia of the nail matrix and of the nail-bed, confirming that these lesions were “ungual” malignant melanoma in situ. Such an early lesion of malignant melanoma of the nail apparatus can be completely cured with conservative excision, and the phalanx of the affected digit can be preserved. 相似文献
7.
Bassioukas K Zioga A Konstantinou E Alexis J Fotika C Agnantis N Hatzis J 《Cutis; cutaneous medicine for the practitioner》2002,69(5):353-356
We present a 72-year-old man with a subungual amelanotic malignant melanoma (MM) on the right first toe with numerous local nodular metastases after trauma and without regional lymph node involvement. Most of the lesions were angiomatous (reddish blue), and some had a hyperkeratotic surface, clinically resembling Kaposi sarcoma. Results of biopsies performed on skin taken from the toe and from a metastatic lesion of the tibia revealed a classic case of amelanotic MM. This case has 2 interesting points: the clinical presentation of the metastatic lesions and the topical spreading of the lesions, which was initiated after traumatic injury of the prime lesion. 相似文献
8.
Tévar E Torrelo A Contreras F Colmenero I Zambrano A 《Actas dermo-sifiliográficas》2006,97(8):518-521
We present a patient with phacomatosis pigmentokeratotica (PPK) who developed several basal cell carcinomas on epidermal nevus lesions in adult life. PPK shows an elevated incidence of development of malignant lesions both on the sebaceous or epidermal nevus component as well as on the nevus spilus one. 相似文献
9.
Pietro Rubegni MD Arianna Lamberti MD Filomena Mandato MD Roberto Perotti MD Michele Fimiani MD 《International journal of dermatology》2014,53(4):404-412
In 2–8% of patients with melanoma, the first clinical manifestation of the disease may be skin metastasis. In these cases, differential diagnosis with the primary melanoma, benign melanocytic lesions, and other malignant and benign skin growths is particularly challenging. For this reason, the dermatologist's approach to cutaneous metastases of malignant melanoma calls for knowledge of the great morphological variety of these lesions. Dermoscopic characteristics associated with CMMMs have not yet been codified. The aim of the present review is to provide additional information about dermoscopic aspects of these skin lesions. 相似文献
10.
Various modalities have been used extensively in the treatment of malignant skin neoplasms, usually with considerable success. Clinical situations arise, however, when lesions are so advanced on presentation that standard therapeutic measures are unlikely to achieve tumour eradication. This paper documents the use of intra-arterial infusion chemotherapy as basal treatment in eleven such patients–five with advanced squamous carcinoma of skin of face; four with extensive peripheral limb lesions (including two patients with Marjolin's ulcers): one patient with lymphoma of skin; and another with locally extensive malignant melanoma. In all cases, except the patient with melanoma, there was a major regression of the tumours sufficient to allow local tumour eradication with subsequent radiotherapy and/or surgery. 相似文献
11.
BACKGROUND: "Nagashima-type" keratosis is characterized by transgressive and nonprogressive palmoplantar keratoderma (PPK) with an autosomal recessive trait. Because its clinical manifestations are similar to but milder than those of mal de Meleda, it was originally described as a mild form of Meleda-type PPK. Since then, about 20 cases have been reported in the Japanese-language literature. However, to our knowledge, no cases have been reported from countries other than Japan, presumably because Nagashima-type PPK was not recognized as a distinct entity. It is essential to describe the characteristics of this disease in the English-language literature. OBSERVATIONS: A 17-year-old boy presented with transgressive, hyperhidrotic, erythematous, and hyperkeratotic lesions on his palms and soles that had developed when he was an infant and had progressed until 2 to 3 years earlier. His family history revealed no similar disorders. The symptoms and clinical course were typical for Nagashima-type PPK. A genetic study was performed to search for a mutation in the SLURP1 gene, which is responsible for mal de Meleda, but no mutations were detected in the exon or intron sites of SLURP1. Conclusion The results of the present genetic study suggest that Nagashima-type keratosis is a novel entity of PPK and is distinct from mal de Meleda. 相似文献
12.
M. H. Zeng M.M. Q. T. Kong M.M. H. Sang M.D. D. Q. Deng M.B. Q. M. Xie M.B. 《Pediatric dermatology》2013,30(5):e104-e105
Spitz nevi are benign melanocytic lesions with many histologic similarities to malignant melanoma. A case of agminated Spitz nevi on a 2‐year‐old boy's left cheek is reported and 41 other cases of agminated Spitz nevi are reviewed. In this case, two biopsies were performed on two different‐appearing lesions and the results of both biopsies showed Spitz nevi. 相似文献
13.
Keratin 16 (KRT16 in human, Krt16 in mouse), a type I intermediate filament protein, is constitutively expressed in epithelial appendages and is induced in the epidermis upon wounding and other stressors. Mutations altering the coding sequence of KRT16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, oral leukokeratosis, and palmoplantar keratoderma (PPK). PPK associated with PC is extremely painful and compromises patient mobility, making it the most debilitating PC symptom. In this study, we show that, although inherited in a recessive manner, the inactivation of Krt16 in mice consistently causes oral lesions as well as PPK-like hyperkeratotic calluses on Krt16(-/-) front and hind paws, which severely compromise the animals' ability to walk. Our findings call into question the view that PC-related PPK arises exclusively as a gain-of-function on account of dominantly acting mutated keratins, and highlight the key role of modifiers in the clinical heterogeneity of PC symptoms. 相似文献
14.
Hannah Song Fiatsogbe Dzuali Susan N. Chi James R. Treat Jennifer T. Huang 《Pediatric dermatology》2019,36(1):e48-e49
We report a child with a past medical history notable for congenital deafness, palmoplantar keratoderma (PPK), and hypothalamic glioma who initiated a MEK inhibitor trametinib for cancer‐directed therapy at 11 years of age and was incidentally noted to have marked improvement in his PPK. Trametinib withdrawal led to worsening in the patient's PPK. We speculate that the patient's PPK improved because of trametinib, given the temporal relationship between trametinib therapy and PPK severity, observed both after introduction and withdrawal of trametinib therapy. The upregulation of MAPK signaling may be involved in the pathogenesis of keratinocyte proliferation in at least some forms of PPK, given that downstream inhibition of MAPK signaling led to an improvement in the patient's PPK. 相似文献
15.
Ahmed K. Alomari Earl J. Glusac Jennifer Choi Pei Hui Erin H. Seeley Richard M. Caprioli Kalman L. Watsky Jennifer Urban Rossitza Lazova 《Journal of cutaneous pathology》2015,42(10):757-764
A 37‐year‐old pregnant woman presented with a 2‐cm irregular reddish nodule on her left upper arm during pregnancy. A biopsy from the lesion showed a 2.2‐mm thick malignant melanoma with intravascular invasion, 25 mitosis/mm2 and no ulceration. Following induction of labor, the patient underwent re‐excision with sentinel lymph node biopsy. This showed no residual melanoma and no lymph node metastasis. The newborn boy had multiple pigmented lesions on the trunk, some of which were large and irregular. Two were biopsied and histologic examination showed dense dermal proliferation of medium sized melanocytes with multiple mitotic figures and no maturation with their descent into the dermis, raising suspicion of transplacental metastases. Examination of the placenta failed to show metastatic lesions. Multiplex polymerase chain reaction (PCR)‐based genotyping, including testing for amelogenin locus for sex chromosome determination, demonstrated the presence of Y chromosome material in the melanocytes of the newborn's lesions excluding maternal origin. A diagnosis of congenital nevi was rendered. Subsequently, Imaging Mass Spectrometric analysis of the mother's lesion showed proteomic signature expression indicative of malignant melanoma, whereas the two lesions in the newborn showed changes indicative of nevi. This case demonstrates the utility of genotyping and Mass Spectrometry analysis in this challenging clinical scenario 相似文献
16.
A.C. PEMBROKE K. GRICE† A.V. LEVANTINE‡ A.P. WARIN§ 《Clinical and experimental dermatology》1978,3(2):147-156
We report the eruption of multiple angiomata in four patients with the following malignant diseases: Hodgkin's disease, chronic lymphatic leukaemia, probable disseminated melanoma, and multiple myeloma. In three cases the lesions were capillary haemangiomata, closely resembling granuloma pyogenicum, while in the fourth they were cavernous haemangiomata. In three cases no malignant cells were seen in the lesions, while there was a lymphocytic infiltrate in the lesions of the patient with lymphatic leukaemia. A possible explanation is that the malignant cells secreted an angiogenic factor. 相似文献
17.
Kathy P. Li BS Etsubdenk M. Ajebo MD Davis Diamond MD Matthew Powell MD Matthew Belcher MD 《Pediatric dermatology》2023,40(4):749-750
Herein we describe the case of a Black adolescent who was found to have widely metastatic melanoma originating from a primary vulvar lesion. The lesion presented as a pink, vegetative nodule of the clitoral hood which grew in size over several years and was confirmed to be melanoma on shave biopsy. This patient's amelanotic presentation in conjunction with the rare incidence of vulvar melanoma contributed to the delay in diagnosis. This case exemplifies the challenge of early recognition of potentially malignant vulvar lesions for primary care providers in adolescents. 相似文献
18.
Jasmine Saleh Michael L. Wang Paul W. Harms Rajiv M. Patel Douglas R. Fullen 《Journal of cutaneous pathology》2018,45(9):701-704
Osteocartilaginous differentiation in malignant melanoma is rare and can pose a diagnostic challenge. In previously reported cases, melanomas were predominantly located on acral and mucosal sites, with osteocartilaginous differentiation present in either primary or recurrent lesions. We report a case of a 52‐year‐old female with malignant melanoma located on the right upper back exhibiting osteosarcomatous differentiation only in the axillary lymph node metastasis. This case serves to highlight that the divergent differentiation can occur in lymph node metastases while being absent in the primary lesion. The patient's medical history, careful histological examination, and immunohistochemistry may be necessary for establishing the correct diagnosis. 相似文献
19.
Hans Christian Hennies Kathrin Giehl Steffen Emmert 《Journal der Deutschen Dermatologischen Gesellschaft》2014,12(9):781-788
Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and genetic or hereditary forms exist. Differentiation between acquired and hereditary forms is essential for adequate treatment and patient counseling. Acquired forms of PPK have many causes. A plethora of mutations in many genes can cause hereditary PPK. In recent years several new causative genes have been identified. Individual PPK may be quite heterogeneous with respect to presentation and associated symptoms. Since the various hereditary PPK – like many other monogenic diseases – exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. Knowledge about the large but quite heterogeneous group of hereditary PPK is also important to dissect the molecular mechanisms of epidermal differentiation on palms and soles, ultimately leading to targeted corrective therapies in the future. 相似文献
20.
Detection of early lesions of malignant melanoma is highly important for the improvement of the prognosis. However, diagnosis of early malignant melanoma is not easy and is often discordant even among expert dermatopathologists. In this study, we propose guidelines for the histopathologic diagnosis of plantar malignant melanoma and malignant melanoma in situ on the sole. They are formulated with two-dimensional coordination of maximum diameters of the lesions and degrees of intraepidermal proliferation of solitary-arranged melanocytes. The guidelines are simple and reproducible, and surely contribute to the accurate diagnosis of early plantar malignant melanoma. 相似文献