Current concepts from diagnosis to management in Gorham–Stout disease: a systematic narrative review of about 350 cases

Angelini, Andrea; Mosele, Nicolò; Pagliarini, Elisa; Ruggieri, Pietro

doi:10.1530/eor-21-0083

Cited by 25 publications

(29 citation statements)

References 151 publications

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“…18 Similarly, combination sirolimus and bisphosphonates have been used for treatment of GSD, suggesting that these drugs may have a synergistic effect in this condition as well. 59,60 The bisphosphonate zoledronic acid may have additional inhibitory effects on Ras-ERK signaling, unlike other medications in its class. 61,62 Unfortunately, first-line therapy is not always effective in treating KLA, and many patients ultimately experience disease progression.…”

Section: Treatmentsmentioning

confidence: 99%

Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment

McDaniel

Adams

Steele³

et al. 2023

Pediatric Blood & Cancer

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Kaposiform lymphangiomatosis (KLA) is a life‐threatening rare disease that can cause substantial morbidity, mortality, and social burdens for patients and their families. Diagnosis often occurs long after initial symptoms, and there are few centers in the world with the expertise to diagnose and care for patients with the disease. KLA is a lymphatic anomaly and significant advancements have been made in understanding its pathogenesis and etiology since its first description in 2014. This review provides multidisciplinary, comprehensive, and state‐of‐the‐art information on KLA patient presentation, diagnostic imaging, pathology, organ involvement, genetics, and pathogenesis. Finally, we describe current therapeutic approaches, important areas for research, and challenges faced by patients and their families. Further insights into the pathogenesis of KLA may advance our understanding of other vascular anomalies given that similar signaling pathways may be involved.

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Section: Treatmentsmentioning

confidence: 99%

Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment

McDaniel

Adams

Steele³

et al. 2023

Pediatric Blood & Cancer

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“…In GSS, until they exhibit clinical symptoms such pathologic bone fracture, subcutaneous swelling, or even pericardial effusion or chylothorax, which is the abnormal buildup of chyle in the region between the lungs and chest cavity, these alterations may go undiagnosed ( 18 , 19 ).…”

Section: Discussionmentioning

confidence: 99%

“…Patients with chylothorax may have respiratory failure and typically have a worse prognosis since this effusion may recur, necessitating recurrent thoracentesis. About 43.6% of patients with chylothorax have reported fatal outcomes, which is much higher than that of patients without it ( 18 ). Although there is no standard solution for patients with GSS and chylothorax, tube drainage, TPN, and strict fasting are used therapeutically.…”

Section: Discussionmentioning

confidence: 99%

“…However, posterioronly treatments using posterior column osteotomies or anterior/posterior operations combined with acute correction Surgical field of the spine, which revealed thin cortical bone, sparse cancellous bone, and porous cancellous surface that appeared highly soft and spongy. In GSS, until they exhibit clinical symptoms such pathologic bone fracture, subcutaneous swelling, or even pericardial effusion or chylothorax, which is the abnormal buildup of chyle in the region between the lungs and chest cavity, these alterations may go undiagnosed (18,19).…”

Section: Discussionmentioning

confidence: 99%

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Surgical treatment of severe thoracic kyphosis and neurological deficit in a patient with Gorham–Stout syndrome: A case report and literature review

et al. 2022

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BackgroundGorham–Stout syndrome is an uncommon condition with a varied clinical presentation and unclear cause that is characterised by a proliferation of lymphatic capillaries and severe regional osteolysis. Spinal and visceral involvement increases the syndrome's morbidity and mortality rates. Here, we report about a male patient with Gorham's disease who developed local kyphosis and neurological disorders due to massive osteolysis.Case presentationA 13-year-old male patient presented with progressive kyphosis and massive osteolysis of the thoracic vertebrae. Halo-pelvic traction and vertebral column resection osteotomy were performed to reconstruct the spine and prevent disease progression. The entire lesion was resected, and an artificial vertebra filled with allograft bone was used to achieve temporary stability. Although the patient presented with chylothorax following surgery, which required thoracic drainage, the patient did achieve a satisfying outcome.ConclusionsLimited by the number of GSS cases with spinal involvement and chylothorax manifestations, halo-pelvic distraction as a preoperative preparation and vertebral column resection osteotomy provide a novel avenue for managing this disease.

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“…The disease may be discovered after a pathological fracture determined by osteolysis and osteopenia. The etiology of GSD is not fully known, and the anatomopathological data indicate disorganized lymphangiogenesis [ 6 , 25 ].…”

Section: Vascular Anomalies: Ras/raf/mapk/erk Signaling Pathways (Ras...mentioning

confidence: 99%

The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms

Butnariu

Gorduza

Florea

et al. 2022

IJMS

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Vascular anomalies (VAs) are morphogenesis defects of the vascular system (arteries, capillaries, veins, lymphatic vessels) singularly or in complex combinations, sometimes with a severe impact on the quality of life. The progress made in recent years with the identification of the key molecular pathways (PI3K/AKT/mTOR and RAS/BRAF/MAPK/ERK) and the gene mutations that lead to the appearance of VAs has allowed the deciphering of their complex genetic architecture. Understanding these mechanisms is critical both for the correct definition of the phenotype and classification of VAs, as well as for the initiation of an optimal therapy and the development of new targeted therapies. The purpose of this review is to present in synthesis the current data related to the genetic factors involved in the etiology of VAs, as well as the possible directions for future research. We analyzed the data from the literature related to VAs, using databases (Google Scholar, PubMed, MEDLINE, OMIM, MedGen, Orphanet) and ClinicalTrials.gov. The obtained results revealed that the phenotypic variability of VAs is correlated with genetic heterogeneity. The identification of new genetic factors and the molecular mechanisms in which they intervene, will allow the development of modern therapies that act targeted as a personalized therapy. We emphasize the importance of the geneticist in the diagnosis and treatment of VAs, as part of a multidisciplinary team involved in the management of VAs.

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Current concepts from diagnosis to management in Gorham–Stout disease: a systematic narrative review of about 350 cases

Cited by 25 publications

References 151 publications

Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment

Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment

Surgical treatment of severe thoracic kyphosis and neurological deficit in a patient with Gorham–Stout syndrome: A case report and literature review

The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms

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