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1.
Histiocytoid Sweet syndrome (HSS) is a rare histopathologic variant of Sweet syndrome that demonstrates dermal and/or subcutaneous infiltrate with a prominent component of myeloid cells resembling histiocytes. It has been known to occur in association with hematologic neoplasms, including myelodysplastic syndrome (MDS) and acute myelogenous leukemia, but whether it confers an increased risk of such neoplasms is controversial. Here, we describe a case of a HSS that led to the diagnosis of MDS with an isocitrate dehydrogenase 1 (IDH‐1) mutation and a corresponding study looking for additional cases of IDH‐1 mutations in biopsies of histiocytoid and conventional Sweet syndrome. 相似文献
2.
Romiti R Rengifo JA Arnone M Sotto MN Valente NY Jansen T 《The Journal of dermatology》1999,26(12):808-812
Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by lipomatous hamartomas ranging in size from a few millimeters to several centimeters and affecting the head. Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. We report the clinicopathologic findings of a 4-year-old Brazilian girl affected by this syndrome and review the literature. To our best knowledge, this is the first documented case of encephalocraniocutaneous lipomatosis occurring sporadically in South America. 相似文献
3.
Germline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder. 相似文献
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5.
W Chen B Obermayer‐Pietsch J‐B Hong BC Melnik O Yamasaki C Dessinioti Q Ju AI Liakou S Al‐Khuzaei A Katsambas J Ring CC Zouboulis 《Journal of the European Academy of Dermatology and Venereology》2011,25(6):637-646
Acne, one of the most common skin disorders, is also a cardinal component of many systemic diseases or syndromes. Their association illustrates the nature of these diseases and is indicative of the pathogenesis of acne. Congenital adrenal hyperplasia (CAH) and seborrhoea‐acne‐hirsutism‐androgenetic alopecia (SAHA) syndrome highlight the role of androgen steroids, while polycystic ovary (PCO) and hyperandrogenism‐insulin resistance‐acanthosis nigricans (HAIR‐AN) syndromes indicate insulin resistance in acne. Apert syndrome with increased fibroblast growth factor receptor 2 (FGFR2) signalling results in follicular hyperkeratinization and sebaceous gland hypertrophy in acne. Synovitis‐acne‐pustulosis‐hyperostosis‐osteitis (SAPHO) and pyogenic arthritis‐pyoderma gangrenosum‐acne (PAPA) syndromes highlight the attributes of inflammation to acne formation. Advances in the understanding of the manifestation and molecular mechanisms of these syndromes will help to clarify acne pathogenesis and develop novel therapeutic modalities. 相似文献
6.
Warren Weightman 《The Australasian journal of dermatology》1996,37(4):167-177
Toxic epidermal necrolysis (TEN) is a rare, drug-induced, life-threatening syndrome with widespread epidermal loss and mucosal erosions. The classification, pathophysiology, clinical features and treatment are discussed in this review. Prognosis has improved as admission to a burns unit and early treatment of infection has become standard management. The role of corticosteroids in treatment is still controversial. 相似文献
7.
Sei‐ichiro Motegi Yoko Yokoyama Akihiko Uchiyama Sachiko Ogino Yuko Takeuchi Kazuya Yamada Tomoyasu Hattori Hiroaki Hashizume Yuichi Ishikawa Makoto Goto Osamu Ishikawa 《The Journal of dermatology》2014,41(12):1047-1052
Atypical progeroid syndrome (APS), including atypical Werner syndrome (AWS), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C. We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). A 53‐year‐old Japanese man had a history of recurrent severe cardiovascular diseases as well as brain infarction and hemorrhages. Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high‐pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird‐like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent. In immunofluorescence staining and electron microscopic analyses of the patient's cultured fibroblasts, abnormal nuclear morphology, an increase in small aggregation of heterochromatin and a decrease in interchromatin granules in nuclei of fibroblasts were observed, suggesting that abnormal nuclear morphology and chromatin disorganization may be associated with the pathogenesis of APS/AWS. 相似文献
8.
报告1例Olmsted综合征。男,21岁,因双侧进行性掌跖角化和腔口周围角化性斑片就诊。患者自小曾在当地医院以湿疹、皮炎等治疗,并使用各种药膏(名不详),无明显疗效,病情进行性加重,表现为边缘锐利的残毁性掌跖角化、指(趾)压缩,全身泛发毛囊性角化性灰白色丘疹,甲床充满白色、坚硬的角化性碎片,同时还有乳头乳晕角化过度和普秃。 相似文献
9.
Well’s综合征1例 总被引:1,自引:1,他引:0
报告1例Well's综合征。患者女,31岁。四肢反复出现皮疹,伴瘙痒、疼痛1年余,加重1月。组织病理示:真皮内大量嗜酸性细胞浸润,并可见火焰现象。诊断为嗜酸性蜂窝织炎(Well's综合征)。 相似文献
10.
Y Hagari M Aso S Shimao T Okano A Kurimasa K Takeshita 《The Journal of dermatology》1992,19(8):477-480
This is the first report of a Japanese girl with Proteus syndrome. She presented with growth acceleration and precocious development of the left breast as well as macrodactyly, hemihypertrophy, a subcutaneous preaxillary mass, portwine stains, connective tissue nevi, and a depigmented macule. All these abnormalities were confined to the left side of her body. Although most of the manifestations fit those of Proteus syndrome, the presence of the portwine stains and hemihypertrophy also suggested Klippel-Trenaunay-Weber syndrome. The findings in our patient suggest that the most important characteristic distinguishing Proteus syndrome from Klippel-Trenaunay-Weber syndrome is the presence of functional abnormalities such as a growth spurt and precocious breast development. Proteus syndrome may be genetically different from the Klippel-Trenaunay-Weber syndrome. 相似文献
11.
A case of Rombo syndrome. 总被引:1,自引:0,他引:1
Rombo syndrome is a rare entity characterized by the presence of atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema and a propensity to develop basal cell carcinomas. We describe a patient whose clinical and histopathological abnormalities are consistent with this diagnosis. 相似文献
12.
I. Nemoto-Hasebe M. Akiyama S. Kudo A. Ishiko A. Tanaka† K. Arita H. Shimizu 《The British journal of dermatology》2009,161(2):452-455
Background Connexins, components of the gap junction, are expressed in several organs including the skin and the cochlea. Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are responsible for various dermatological syndromes and/or inherited hearing loss, frequently showing overlapping phenotypes.
Objectives To clarify the spectrum of clinical phenotypes caused by connexin mutations.
Methods We report a 32-year-old Japanese woman with mild palmoplantar keratoderma (PPK) with severe sensorineural hearing loss, knuckle pads and pseudoainhum of her toes.
Results Direct sequencing revealed no mutation in GJB2 , but a novel heterozygous missense mutation p.Gly59Arg in GJB6 . Electron microscopy revealed no apparent morphological abnormality of gap junctions in the patient's lesional epidermis.
Conclusions The patient harboured the novel GJB6 missense mutation p.Gly59Arg in the first extracellular loop of Cx30. Mutations in glycine 59 of Cx26 are associated with PPK–deafness syndrome, and the similar phenotype here supports the observed heteromeric channel formation; the dominant nature of the mutation suggests an effect on gap junctions similar to that of the comparable mutation in Cx26. 相似文献
Objectives To clarify the spectrum of clinical phenotypes caused by connexin mutations.
Methods We report a 32-year-old Japanese woman with mild palmoplantar keratoderma (PPK) with severe sensorineural hearing loss, knuckle pads and pseudoainhum of her toes.
Results Direct sequencing revealed no mutation in GJB2 , but a novel heterozygous missense mutation p.Gly59Arg in GJB6 . Electron microscopy revealed no apparent morphological abnormality of gap junctions in the patient's lesional epidermis.
Conclusions The patient harboured the novel GJB6 missense mutation p.Gly59Arg in the first extracellular loop of Cx30. Mutations in glycine 59 of Cx26 are associated with PPK–deafness syndrome, and the similar phenotype here supports the observed heteromeric channel formation; the dominant nature of the mutation suggests an effect on gap junctions similar to that of the comparable mutation in Cx26. 相似文献
13.
Kerrie G. Satcher MD Gustavo H. B. Maegawa MD PhD Jennifer J. Schoch MD 《Pediatric dermatology》2020,37(1):217-218
Microphthalmia and linear skin defects syndrome (MLS) is a rare X-linked dominant disorder characterized by microphthalmia and linear atrophic plaques of the face and neck. The diagnosis of MLS can be challenging secondary to both its rarity and to clinical overlap with Goltz syndrome. Whereas the skin lesions of MLS are more likely to improve in appearance with age, the lesions of Goltz are typically persistent. 相似文献
14.
Strauss RM Bäte J Nischal KK Clayton T Gooi J Darling JC Newton-Bishop JA 《The British journal of dermatology》2006,155(6):1283-1286
Laryngo-onychocutaneous syndrome (LOCS) is a condition characterized by erosive or ulcerative skin lesions associated with excessive granulation tissue, at sites of trauma such as the digits, elbows and knees. Similar lesions can occur within the conjunctival mucosa, leading to corneal scarring and blindness. The main complications, however, occur in the respiratory tract, where a similar process of erosions and subsequent formation of granulation tissue causes airway obstruction which may lead to premature death. LOCS is now believed to be a nonblistering variant of junctional epidermolysis bullosa and to date there are no efficacious treatments available. We report a 16-year-old girl with LOCS who failed to respond to methylprednisolone and cyclophosphamide, but had a partial response to oral thalidomide with marked decrease in granulation tissue and tracheal secretions. Interruption of treatment resulted in prompt resurgence of the granulation tissue which was again controlled by reintroduction of thalidomide. We propose that in the absence of effective therapies for LOCS, a trial of thalidomide in these patients should be considered. 相似文献
15.
A 71-year-old edentulous man developed a severely painful red mouth at sites of contact with a new denture. Patch testing showed allergy to samples of the denture material and to 2-hydroxyethyl methacrylate. Patch testing to methyl methacrylate was negative. Prolonged boiling of the denture resulted in reversal of his symptoms and samples of this fully cured denture material produced negative patch tests. While allergy to acrylates is a rare cause of stomatitis, this possibility must be considered in patients presenting with oral symptoms. Material safety data sheets are unreliable in providing information regarding the type of acrylate present in the material. Hence, patch testing should be performed with a battery of acrylate allergens as well as with small samples of the denture material. 相似文献
16.
Schmulewitz L Attard N Fearfield L Westaby D Prasad P Thomas HJ Bunker CB 《The British journal of dermatology》2008,159(1):228-230
We present a patient with an unusual enterocutaneous syndrome. Long-term, low-dose acitretin treatment has stabilized the development of gastrointestinal lesions while synchronously reducing cutaneous morbidity. 相似文献
17.
患儿,女,2个月。因躯干及四肢皮疹2个月就诊。皮肤科检查:躯干及四肢皮肤弥漫分布网状色素沉着斑。双股内侧、手腕部见暗红色大小不一丘疹、水疱,水疱壁厚,尼氏征阴性,部分水疱结痂。皮疹呈泼溅状分布。组织病理示:表皮角化过度,棘层增厚,表皮内见多房性水疱,疱液中可见大量嗜酸性粒细胞。真皮浅层毛细血管周围可见少量淋巴细胞及嗜酸性粒细胞浸润。诊断:新生儿色素失禁症。 相似文献
18.
Toyoko Inazumi Shingo Tajima Takashi Ando Megumi Shimada 《The Journal of dermatology》1995,22(10):801-803
Cardiac manifestations of the CREST syndrome or limited systemic sclerosis (ISSc) are very rare. We report a case of CREST syndrome associated with sick sinus syndrome. Histopathology of cardiac muscle revealed fibrotic changes, suggesting that such changes may be pathogenetically related to CREST syndrome. 相似文献
19.
Neutrophilic panniculitis encompasses a heterogeneous group of diseases histopathologically characterized by an inflammatory infiltrate in the subcutaneous fat mainly composed of mature neutrophils. This group of panniculitides includes alpha(1)-antitrypsin deficiency, infectious panniculitis, factitious panniculitis, subcutaneous Sweet syndrome, neutrophilic/pustular panniculitis associated with rheumatoid arthritis, erythema nodosum-like lesions of Beh?et disease, bowel bypass panniculitis, and iatrogenic panniculitis. This article reviews subcutaneous Sweet syndrome, which is a rare idiopathic panniculitis characterized by a dense neutrophilic infiltrate in the subcutis and is often related to hematologic malignancies. The relationship of subcutaneous Sweet syndrome and erythema nodosum is discussed as well as the differential diagnosis with other neutrophilic panniculitis. 相似文献