Congenital and Infantile Skin Lesions Affecting the Hand and Upper Extremity, Part 1: Vascular Neoplasms and Malformations

Willard, Katherine J.; Cappel, Mark A.; Kozin, Scott H.; Abzug, Joshua M.

doi:10.1016/j.jhsa.2013.03.040

Cited by 9 publications

(2 citation statements)

References 54 publications

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“…The diagnosis is based on clinical history, clinical exam, and objective findings. Unlike infantile hemangiomas, these nevi can first appear in adulthood making an early diagnosis challenging ( 3 ). Histologically, it is composed of dilated venous tissue with a thin layer of endothelial cells ( 4 ).…”

Section: Discussionmentioning

confidence: 99%

Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations

Goud

Abdelqader

Walters

et al. 2016

Journal of Community Hospital Internal Medicine Perspectives

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Blue rubber bleb nevus syndrome (BRBNS) is a congenital disorder with characteristic venous anomalies that can present with varying degree of blood loss. The most clinically significant symptoms in adults include gastrointestinal (GI) bleeding and iron deficiency anemia. Severe complications can include intestinal torsion, intussusception, and even perforation, with each leading to significant morbidity and mortality. This report serves to give a brief understanding of this rare disease along with current diagnostic and therapeutic options.

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Section: Discussionmentioning

confidence: 99%

Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations

Goud

Abdelqader

Walters

et al. 2016

Journal of Community Hospital Internal Medicine Perspectives

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“…Most lesions involve the skin or subcutaneous tissue or both. They may be sporadic, familial, or syndromic (Labow et al., 2016; Upton et al., 1999; Willard et al., 2013). A rare form of non-hereditary, non-syndromic venous malformations confined to the upper limb presents after puberty; it is possible that the lesions are sub-clinical before puberty.…”

Section: Introductionmentioning

confidence: 99%

Late-onset multiple venous malformations confined to the upper limb: link to somaticMAP3K3mutations

Al-Qattan

Balwi

Al-Zayed

et al. 2020

J Hand Surg Eur Vol

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Venous (cavernous) malformations are commonly seen in the upper limb. Almost all venous malformations are congenital. They may be sporadic, familial, or syndromic. Late-onset, multiple venous malformations confined to the upper limb are rare. Lesions present after puberty. All previously reported cases were located subcutaneously and were small in size. The condition is non-hereditary and non-syndromic. We present a unique series of eight patients with this rare condition. Unique features included the presence of large malformations (up to 20 cm in diameter) and the presence of subfascial lesions causing nerve compression. Surgical excision was curative. Mutational analysis in one patient identified a novel somatic MAP3K3 gene mutation (c.1723T > C, p.Tyr 575 His) in the affected veins. The encoded MAP3K3 protein is known to accelerate the RAS pathway of cellular proliferation. Level of evidence: IV

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Skin Lesions

Cappel¹,

Willard²

2015

The Pediatric Upper Extremity

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Congenital and Infantile Skin Lesions Affecting the Hand and Upper Extremity, Part 1: Vascular Neoplasms and Malformations

Cited by 9 publications

References 54 publications

Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations

Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations

Late-onset multiple venous malformations confined to the upper limb: link to somaticMAP3K3mutations

Skin Lesions

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