共查询到20条相似文献,搜索用时 15 毫秒
1.
2.
3.
Emine Suskan M.D. Nazif Kürkçüolu M.D. † Ömer Uluolu M.D. ‡ 《Pediatric dermatology》1990,7(4):283-286
A 10-year-old girl had focal dermal hypoplasia (Goltz syndrome). She showed the characteristic skin manifestations, mental and physical underdevelopment, and facial, dental, skeletal, ophthalmologic, and urinary abnormalities. In addition, she had a horseshoe kidney abnormality. 相似文献
4.
5.
6.
Michael Mann M.D. Rosalyn Weintraub M.D. Ken Hashimoto M.D. 《Pediatric dermatology》1990,7(4):278-282
We report a case of focal dermal hypoplasia with an initial inflammatory phase. Although our patient had dark red macules and papules and red linear atrophic lesions at birth, her lesions were somewhat faded at 3 months of age and had become yellowish before 5 months of age. Histologic examination of lesions at 3 months of age showed marked edema in the papillary dermis, mononuclear cell infiltration, a prominent fibroblastic population, and a large cluster of dermal lipocytes, suggesting an association between the inflammation and the development of dermal adipose tissue. 相似文献
7.
Amina M. Bhatia M.D. Carol L. Clericuzio M.D. † Catherine A. Musemeche M.D. † 《Pediatric dermatology》1995,12(4):336-339
Abstract: Focal dermal hypoplasia is a rare, X-linked dominant syndrome characterized by dysplasla of the skin, skeleton, and central nervous system. We report an intant who was born with severe focal dermal hypoplasla and an epigastric hernia. Operative timing and approach to abdominal wall defects in the presence of severe cutaneous dysplasia are discussed. 相似文献
8.
R. M. Pujol M.D. J. M. Casanova M. Pérez X. Matias-Guiu M. Planagumà J. M. de Moragas 《Pediatric dermatology》1992,9(2):112-116
Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations. The lesions consisted of patchy, atrophic, scaly, telangiectatic macules arranged in a linear pattern along Blaschko's lines, involving the anterior and lateral aspects of both legs (patient 1) and the anterolateral aspect of the left leg (patient 2). Type I partial syndactyly involving the second and the third toes in both patients was also present. The clinical and histopathologic features and diagnostic difficulties of cases of this disorder with minimal cutaneous and extracutaneous manifestations are discussed. 相似文献
9.
Joon Lee M.D. Myung Soo Cha M.D. Soo Chan Kim M.D. Dongsik Bang M.D. 《Pediatric dermatology》1996,13(1):5-9
A 3-month-old boy had reticulated achromic and atrophic skin lesions on the right buttock and thigh, as well as partial syndactyly of the third and fourth toes of the right foot. With hematoxylin and eosin stain, an epidermal defect, abnormally located fat cell lobules, and absence of the upper and midportions of the dermis were observed, conforming to a typical histopathologic picture of focal dermal hypoplasia. Electron microscopic examination of the atrophic site showed loose collagen bundles, collagen fibers with loss of regular bands, abnormal fibroblasts, and disruption of the basement membrane zone. These defects in the basement membrane zone strongly suggest that abnormal formation of type IV collagen is associated with focal dermal hypoplasia, and that this abnormal formation of collagen is correlated with the clinical sign of skin atrophy. 相似文献
10.
tila Vinícius Vitor Nobre Mrio Taba Júnior Alfredo Ribeiro Silva Srgio Luís Scombatti de Souza Ana Carolina Fragoso Motta 《ANNALS OF DERMATOLOGY》2022,34(4):291
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, consists of an unusual genodermatosis that affects tissues of ectodermal and mesodermal origin and various organs and systems, especially skin, bones, eyes, and oral cavity. While systemic manifestations of FDH have been well documented, the oral manifestations have not been extensively discussed. We present a 22-year-old female patient with history of FDH that showed a variety of systemic and oral manifestations. FDH was diagnosed at birth based on cutaneous alterations. Extra and intraoral examination showed facial asymmetry, lip and perioral atrophy, upper lip papilloma, malocclusion, enamel hypoplasia, and gingival hyperplasia. Mucosal lesions, periodontal diseases, and malocclusion were treated by oral surgery, periodontal therapy and orthodontic treatment, respectively. Although FDH is an uncommon syndrome, health professionals should be aware of its systemic and oral manifestations to establish an early diagnosis and adequate treatment. 相似文献
11.
Gül Yesiltepe Mutlu M.D. Yuval Ramot M.D. M.Sc. Kadir Babaoglu M.D. Gurkan Altun M.D. Abraham Zlotogorski M.D. Vered Molho‐Pessach M.D. 《Pediatric dermatology》2013,30(5):e70-e73
We present a 10‐year‐old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder. 相似文献
12.
Tess Peters M.D. M.Sc. Renee Perrier M.D. M.Sc. FRCP Richard M. Haber M.D. FRCP 《Pediatric dermatology》2014,31(2):220-224
Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X‐linked dominant congenital disorder involving defects of mesodermal‐ and ectodermal‐derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold–Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome. 相似文献
13.
Eduardo Nagore M.D. José M. Sánchez-Motilla M.D. M. Isabel Febrer M.D. Beatriz Cremades M.D. Montserrat Aleu M.D. & Adolfo Aliaga M.D. 《Pediatric dermatology》1999,16(3):217-219
Amniotic band syndrome is one of the many causes of aplasia cutis congenita. It is usually seen as a constriction band surrounding a limb or as a membrane that adheres to some part of the body. This syndrome can be associated with various malformations. An infant with amniotic adhesions producing aplasia cutis, radial palsy, and hypoplasia of the radius is presented. Early treatment led to total functional recovery of the affected limb. 相似文献
14.
Carrie C. Coughlin M.D. Scott W. Dunbar M.D. Susan J. Bayliss M.D. David R. Berk M.D. 《Pediatric dermatology》2013,30(6):e259-e260
We report a case of focal preauricular dermal dysplasia in an 18‐day‐old healthy girl. We discuss the classification of focal preauricular dermal dysplasia within the spectrum of focal facial dermal dysplasia and aplasia cutis congenita. 相似文献
15.
Milos Jesenak M.D. Ph.D. M.B.A. Ivana Plamenova M.D. Ph.D. Lukas Plank M.D. Ph.D. Peter Banovcin M.D. Ph.D. 《Pediatric dermatology》2013,30(5):e91-e93
Wiskott‐Aldrich syndrome is a rare X‐linked primary immunodeficiency clinically characterized by the triad of microthrombocytopenia, immunodeficiency, and eczema. Juvenile xanthogranuloma is a well‐recognized benign disorder of infancy and early childhood from the group of non‐Langerhans cell histiocytoses, with a good prognosis and spontaneous involution. We report a boy with Wiskott‐Aldrich syndrome caused by a new, not previously described mutation associated with multifocal juvenile xanthogranuloma. 相似文献
16.
Cross‐Sectional Study Evaluating Skin,Hair, Nail,and Bone Disease in Patients with Focal Dermal Hypoplasia
下载免费PDF全文
![点击此处可从《Pediatric dermatology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Nicole S. Gunasekera B.A. Joan K. Divito B.S. Thomas S. Kupper M.D. Jennifer T. Huang M.D. Sherrie J. Divito M.D. Ph.D. 《Pediatric dermatology》2017,34(2):197-198
Focal dermal hypoplasia (FDH) is an X‐linked dominant disease characterized by dermal thinning and fat herniation with other ectodermal and mesodermal abnormalities. There is limited literature regarding the symptomatology and progression of skin, hair, and nail disease. The risk of bone fragility has not been explored either. This cross‐sectional survey‐based study explored these gaps in knowledge and provides direction for future avenues of research in FDH. 相似文献
17.
Zhaowei Chu Yanting Liu Huan Zhang Weihui Zeng Songmei Geng 《ANNALS OF DERMATOLOGY》2016,28(2):232-236
Melkersson–Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child''s lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn''s disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn''s disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS. 相似文献
18.
Chulabhorn Pruksachatkunakorn M.D. Kittchai Uruwannakul M.D. Lertlakana Bhoopat M.D. † 《Pediatric dermatology》1995,12(3):252-255
Abstract: Kaposi sarcoma is rare In children with acquired immunodeficiency syndrome (AIDS). We report a 3-year-old boy with AIDS and Kaposi sarcoma of the skin and lymph node. This pattent Is the only one with this disease among 278 children with AIDS who have been seen at Chiang Mai University Hospital. He responded well to intravenous vincristine. 相似文献
19.
Jung Eun Seol In Ho Park Wonkyung Lee Hyojin Kim Jong Keun Seo Seung Hwan Oh 《ANNALS OF DERMATOLOGY》2015,27(3):306-309
Here, we report a case of Cowden syndrome with an unusual clinical course of late-onset oral papillomatosis and a novel germline PTEN mutation. Cowden syndrome is the most common phosphatase and tensin homolog hamartomatous tumor syndrome. It is characterized by multiple hamartomas in the gastrointestinal tract and mucocutaneous lesions such as trichilemmomas, oral papillomatosis, facial papules, and acral keratoses. Patients with Cowden syndrome have a higher risk of malignancies, especially breast, colon, and thyroid cancers. A 53-year-old female presented with cobblestone-like papillomatous papules on the lower gums that developed 1 year earlier. She had no other mucocutaneous lesions besides oral papillomatosis. Gastrointestinal endoscopy and colonoscopy revealed multiple hamartomas in the stomach and colon. The patient had a history of breast cancer and multinodular goiter diagnosed 4 and 5 years ago, respectively. She was diagnosed with Cowden syndrome and a novel PTEN mutation was confirmed by direct sequencing. 相似文献
20.
Andrea Diociaiuti M.D. Ph.D. Daniele Castiglia Ph.D. Paola Fortugno Ph.D. Andrea Bartuli M.D. Monica Pascucci Ph.D. Giovanna Zambruno M.D. May El Hachem M.D. 《Pediatric dermatology》2013,30(4):e65-e67
Here we report a lethal case of Netherton syndrome presenting with neurologic complications, hypernatremic dehydration, failure to thrive, and episodes of sepsis. Molecular analysis of the serine protease inhibitor Kazal‐type 5 gene identified a homozygous mutation (c.1111C>T, p.Arg371X). This case highlights the importance of early diagnosis to start appropriate care in a timely fashion and prevent disease complications. 相似文献