排序方式: 共有72条查询结果,搜索用时 15 毫秒
1.
Francisca Morgado Mariana Batista Ana Moreno Inês Coutinho 《Pediatric dermatology》2021,38(1):191-193
We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder. 相似文献
2.
Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children
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)
Kaiane Habeshian MD Alison Huppmann MD Carlos Ferreira MD A. Yasmine Kirkorian MD 《Pediatric dermatology》2018,35(4):e253-e254
A 4‐year‐old girl with autism spectrum disorder and congenital heart disease presented to dermatology clinic for evaluation of skin growths present since infancy. Physical examination was significant for macrocephaly and agminated skin‐colored to pink papulonodules in a segmental distribution on the right lower back and buttocks, biopsy of which showed storiform collagenomas (sclerotic fibromas). Genetic testing revealed a pathogenic missense mutation in the PTEN gene, and a diagnosis of PTEN hamartoma tumor syndrome was made. The segmental nature of her storiform collagenomas is unique, to our knowledge, and may be explained by a postzygotic second‐hit PTEN mutation, contributing to the growing spectrum of clinical findings associated with PTEN hamartoma tumor syndrome. 相似文献
3.
Hallie B. Hinen MD Robert M. Gathings MD Marshall Shuler MD Lara Wine Lee MD PhD 《Pediatric dermatology》2018,35(1):e88-e89
We report the successful treatment of multiple facial milia with manual extraction and tretinoin in a child with orofaciodigital syndrome type 1. Treatment with topical medications may be insufficient in individuals with orofaciodigital syndrome type 1, and pitted scarring is often a sequala. This case demonstrates that manual extraction is well tolerated and effective in the treatment of multiple milia. In addition, clinicians need to be aware of this rare genetic condition, which commonly presents de novo and can lead to significant morbidity if untreated. 相似文献
4.
Leila H. Shayegan BA MD Candidate Maria C. Garzon MD Kimberly D. Morel MD Rachel Borlack MD Patricia M. Vuguin MD Kara G. Margolis MD Yesim Y. Demirdag MD Elaine M. Pereira MD Christine T. Lauren MD MHA 《Pediatric dermatology》2020,37(4):695-697
We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition. 相似文献
5.
Dysmorphology is the study of abnormal patterns of human development. A recurrent and recognizable combination of physical and behavioural abnormalities makes up a syndrome. Accurate recognition and diagnosis of syndromes is important because it influences medical management of patients, provides information about prognosis, and allows for genetic counselling including accurate estimation of genetic risk within families and, where possible, prenatal diagnosis. This review examines the diagnostic process in dysmorphology and indicates how skin signs may provide important clues to the clinician. 相似文献
6.
Hassan Vahidnezhad Leila Youssefian Amir Hossein Saeidian Sirous Zeinali Andrew Touati Maryam Abiri Soheila Sotoudeh Sara Norouz‐zadeh Niloufar Amirinezhad Nikoo Mozafari Maryam Daneshpazhooh Hamidreza Mahmoudi Mohammad Hamid Jonathan P. Bradfield Cecilia E. Kim Hakon Hakonarson Jouni Uitto 《Experimental dermatology》2019,28(10):1118-1121
Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome‐wide single nucleotide polymorphism (SNP) array‐based AM to guide targeted Sanger sequencing of EB candidate genes. Initially, 39 of the 46 cases were diagnosed with homozygous mutations using this method. Independently, 26 cases, including the seven initially unresolved cases, were analysed with an EB‐targeted next‐generation sequencing (NGS) panel. NGS identified mutations in five additional cases, initially undiagnosed due to the presence of compound heterozygosity, deep intronic mutations or runs of homozygosity below the set threshold of 2 Mb, for a total yield of 44 of 46 cases (95.7%) diagnosed genetically. 相似文献
7.
8.
Ami Saraiya Catherine S. Yang Jinah Kim Lionel Bercovitch Leslie Robinson‐Bostom Gladys Telang 《Journal of cutaneous pathology》2015,42(8):559-563
Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by a split in the lamina lucida usually because of mutations in LAMA3, LAMB3 and LAMC2 resulting in absence or reduction of laminin‐332. Rare subtypes of JEB have mutations in COL17A1, ITGB4, ITGA6 and ITGA3 leading to reduction or dysfunction of collagen XVII, integrin α6β4 and integrin α3. The classic finding under light microscopy is a paucicellular, subepidermal split. We describe the unusual presence of an eosinophilic infiltrate in the bullae and subjacent dermis in a neonate with JEB, generalized intermediate (formerly known as non‐Herlitz‐type JEB), discuss the histologic differential diagnosis for a subepidermal blister in a neonate, review the literature regarding cases of epidermolysis bullosa (EB) presenting with inflammatory infiltrates, and discuss mechanisms to explain these findings. This case highlights that eosinophils can rarely be seen in EB and should not mislead the dermatopathologist into diagnosing an autoimmune blistering disorder. 相似文献
9.
Leila H. Shayegan BA Laura E. Levin MD Eloise R. Galligan MD Anne W. Lucky MD Anna L. Bruckner MD Elena Pope MD Irene Lara-Corrales MD Karen Wiss MD Catherine C. McCuaig MD Maria C. Garzon MD Lawrence F. Eichenfield MD Kristen P. Hook MD John C. Browning MD MBA Lawrence A. Schachner MD Marissa J. Perman MD Leslie Castelo-Soccio MD PhD Moise L. Levy MD Sharon A. Glick MD Kimberly D. Morel MD 《Pediatric dermatology》2020,37(2):326-332
10.
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome
Rebeca Velasco Huici MD Jose María Martín MD PhD Bárbara Vázquez MD Esmeralda Silva MD Andrea Estébanez MD Ana Cuesta MD Dolores Ramón MD Carlos Monteagudo MD PhD 《Pediatric dermatology》2020,37(2):385-387
Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies. 相似文献