Pedal hemangioma (venous malformation) occurring in Turner's syndrome: An additional manifestation of the syndrome

Weiss, Sharon W.

doi:10.1016/s0046-8177(88)80079-0

Cited by 16 publications

(8 citation statements)

References 10 publications

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“…Vascular malformations have also been reported to co‐occur in Turner syndrome (Paller et al, 1983; Weiss, 1988), though a complicating factor is the many of these reports were prior to or around the time that classification of hemangiomas and vascular malformations was changed to be based on endothelial characteristics (Mulliken & Glowacki, 1982) and prior to the International Society for the Study of Vascular Anomalies classification (Wassef et al, 2015). Four individuals with Turner syndrome and “pedal hemangiomas” were described with varying features, though Bushkell and colleagues questioned whether these were true hemangiomas and possibly could be related to vascular ectasia of the skin (Bushkell & Broughton, 1984).…”

Section: Discussionmentioning

confidence: 99%

“…Four individuals with Turner syndrome and "pedal hemangiomas" were described with varying features, though Bushkell and colleagues questioned whether these were true hemangiomas and possibly could be related to vascular ectasia of the skin (Bushkell & Broughton, 1984). Weiss (1988) described two individuals with Turner syndrome and "pedal hemangiomas" though histologically the malformations could be considered "venous hemangiomas". Dr. Weiss proposed that these were in fact malformations (rather than a vascular tumor which is what a hemangioma is considered) and that more generalized vascular anomalies could be part of the spectrum of Turner syndrome (Weiss, 1988).…”

Section: Case Reportsmentioning

confidence: 99%

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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

Nriagu,

Williams,

Brewer

et al. 2023

American J of Med Genetics Pt A

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Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co‐occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA—a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co‐occur in individuals with Turner syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Case Reportsmentioning

confidence: 99%

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

Nriagu,

Williams,

Brewer

et al. 2023

American J of Med Genetics Pt A

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“…Other vascular anomalies such as pulmonary, duodenal and jugular vascular anomalies have been described [9][10][11]13]. Venous anomalies have also been reported [14]. Structure of the large arteries differs in Turner women compared to healthy controls which might contribute to the vascular complications [15].…”

Section: Discussionmentioning

confidence: 99%

New Vascular Anomaly in a Girl With Turner Syndrome: Mid-Aortic Narrowing

Kocova

2012

J Med Cases

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Turner syndrome is most frequently caused by X monosmy in girls due to nondisjunction during the first meiotic division in one of the parents. Other numeric and structural anomalies of X chromosome have also been described. Broad spectrum of hearth and grand vessels anomalies including coarctation of the aorta, bicuspid aortal valve, and aortal arch anomalies can occur in Turner syndrome. We present a girl with Turner syndrome accompanied by an uncommon anomaly of the aorta. The girl presented with a severe hypertension at the age of 6 years. Treatment with calcium channel blockers and ACE II inhibitor had a modest response. Chromosomal analysis was delayed due to the modest dysmorphic features and revealed X monosomy (45, X0). Exploring the etiology of the hypertension, assessment of the kidney function, aortography and renal angiography were performed. Mid-aortic narrowing syndrome (MAS) consisting of continuous narrowing of the aorta beginning from the elongated aortal arch towards the thoracic and abdominal part, with several hypoplastic and irregular renal arteries at the ports of the horseshoe kidney was confirmed. During the follow up, the girl presented other cardinal features of the Turner syndrome such as delayed growth and puberty as well as the Hashimoto thyroiditis and was treated accordingly. MAS is extremely rare in children, and, to our knowledge, has not been described previously in a patient with Turner syndrome. In conclusion, in addition to the aortic arch, evaluation of the whole length of the aorta should be recommended in girls with Turner syndrome.

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“…, 1981; Salomonowitz et al. , 1983; Weiss, 1988). Upper and lower gastrointestinal tract bleeding has been recognized and may be the cause of unexplained iron deficiency anaemia (Reinhart et al., 1983).…”

Section: Discussionmentioning

confidence: 99%

“…Vascular abnormalities are often present in patients with Turner's syndrome. They may affect the great vessels, the gastrointestinal tract, the liver and the skin (Burge et al, 1981;Salomonowitz et al, 1983;Weiss, 1988). Upper and lower gastrointestinal tract bleeding has been recognized and may be the cause of unexplained iron deficiency anaemia (Reinhart et al, 1983).…”

Section: Discussionmentioning

confidence: 99%

Delayed diagnosis of congenital factor IX deficiency (Christmas disease) in a girl with Turner's Syndrome

2006

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Patients with Turner's syndrome are at risk of X-linked recessive disorders. We report a case of a young girl with Turner's syndrome with persistent mildly abnormal coagulation studies associated with a mild to moderate bleeding diathesis. The abnormalities were initially attributed to intrahepatic cholestasis and were partially responsive to vitamin K. After an interval of several years an episode of unexplained iron deficiency anaemia prompted re-investigation of the mild coagulopathy. Disproportionate reduction in the factor IX concentration and restoration of haemostasis with factor IX concentrate lead to a revised provisional diagnosis of mild haemophilia B which was subsequently confirmed by sequencing the factor IX gene.

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Pedal hemangioma (venous malformation) occurring in Turner's syndrome: An additional manifestation of the syndrome

Cited by 16 publications

References 10 publications

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

New Vascular Anomaly in a Girl With Turner Syndrome: Mid-Aortic Narrowing

Delayed diagnosis of congenital factor IX deficiency (Christmas disease) in a girl with Turner's Syndrome

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