Urban Schosser Spohn Syndrome

Last update 08 May 2025

Basic Info

Synonyms

HMD, Hereditary mucoepithelial dysplasia, Hereditary mucoepithelial dysplasia (disorder)

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Introduction

A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.

100 Clinical Results associated with Urban Schosser Spohn Syndrome

100 Translational Medicine associated with Urban Schosser Spohn Syndrome

0 Patents (Medical) associated with Urban Schosser Spohn Syndrome

372

Literatures (Medical) associated with Urban Schosser Spohn Syndrome

01 Apr 2025·Journal of the National Cancer Center

A novel risk stratification system for primary small-cell carcinoma of the esophagus: indication for prognostication and staging

Article

Author: Huang, Cheng ; Zhao, Lei ; Yu, Jing ; Zhang, Zhenyang ; Yang, Yong ; Wang, Weijie ; Chen, Silin ; Zhang, Zewei ; Wu, Furong ; Wang, Liyan ; Lin, Yuping ; Chen, Junqiang ; Tang, Tianlan ; Gao, Tiantian ; Wang, Xiaomin ; Lin, Jiangbo ; Zhang, Yiping ; Wang, Ying ; Xu, Yuanji

BackgroundPrimary small cell carcinoma of the oesophagus (PSCCE) is a gastrointestinal tumour of rare onset. The current study was to investigate the role of a novel risk stratification system (RSS) for PSCCE.MethodsThe study included patients with PSCCE attending any of five medical institutions in China in 2008-2021, four of which served as a training set (n = 422) for construction of the RSS while the other served as a separate cohort (n = 256) for validation of the model. The RSS was established based on covariates associated with overall survival (OS) with a two-sided P-value of < 0.05 in multivariable regression. Survival discrimination of RSS was assessed.ResultsIn the training cohort, multivariate regression analysis revealed age, Eastern Cooperative Oncology Group score, and initial lymph node metastasis to be independent prognostic factors for OS in non-distant metastatic PESCC; concurrent hepatic metastasis was the only significant predictor of distant metastatic PESCC. Accordingly, the RSS was developed and could classify patients into four subgroups: low-risk localized disease (LLD, defined as non-distant metastasis PESCC without risk factors, n = 58); high-risk localized disease (HLD, defined as non-distant metastasis PESCC with ≥ 1 risk factor, n = 199); low-risk metastatic disease (LMD, defined as metastatic PESCC without concomitant liver metastases, n = 103); and high-risk metastatic disease (HMD, definded as metastatic disease with synchronous liver metastases, n = 63). Three-year OS rates were 52.5%, 29.5%, 14.4%, and 5.7% for LLD, HLD, LMD, and HMD, respectively. When compared with the tumor-node-metastasis (TNM) system, RSS showed a consistently superior ability to predict OS in both the training and validation cohorts.ConclusionThe RSS is a reliable stratification model that could be used to optimize treatment for PESCC.

01 Feb 2025·Journal of American Association for Pediatric Ophthalmology and Strabismus

Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia

Article

Author: Doyle, Jefferson ; Sambhariya, Whitney Stuard ; Kraus, Courtney L

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant dysplastic dyskeratotic epithelial syndrome caused by pathogenic variants in the SREBF1 gene. This syndrome is associated with a variety of ocular conditions, including cataracts, nystagmus, keratitis, meibomian gland dysfunction (MGD), and decreased visual acuity. We report the case of a boy followed from 1 to 7 years of age who had a confirmed HMD-associated variant in the SREBF1 gene. The patient has severe MGD, with resulting keratitis and photosensitivity, and bilateral glaucoma, which has not previously been reported in association with HMD. The gene affected in HMD negatively affects gap junctions and lipid biosynthesis, which are important in the stability of the trabecular meshwork.

24 Jan 2025·Medicine

Three cases of hemoglobin M disease in a family lineage: Case report and literature review

Review

Author: Wu, Shuangshuang ; Shen, Yuhong ; Wang, Yue ; Xue, Lu ; He, Lili ; Li, Chunhuai

Rationale:This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention. The primary objectives of this study are to enhance awareness of HMD, to advocate for accurate diagnosis and timely treatment, and to underscore the necessity of considering this condition in patients with a familial history of cyanosis.Patient concerns:A 6-year-old boy presented to our hospital with fatigue and cyanosis in his lips and mouth. Both the child’s mother and grandfather had a history of similar symptoms since their childhood.Diagnoses:Diagnosis of hemoglobin M disease.Interventions:The patient was treated with vitamin C.Outcomes:Genetic testing revealed that the patient and her mother carried the c.190C > T mutation, leading to the p.H63Y amino acid change linked to the methemoglobin (MetHb) mutation. Despite undergoing vitamin C therapy, the patient’s symptoms of cyanosis and fatigue persisted.Lessons:Hemoglobin M disease can be readily diagnosed with a delay. Methemoglobinemia should be considered in patients with a family history of cyanosis but no cardiopulmonary disease. Hospital blood gas analysis should include a protocol for detecting methemoglobin, and genetic testing can help confirm the diagnosis.

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Urban Schosser Spohn Syndrome

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