China
Africa
Explore chapters and articles related to this topic
Bannayan–Riley–Ruvalcaba Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Gabriela Maria Abreu Gontijo, Clóvis Antônio Lopes Pinto
Bannayan–Riley–Ruvalcaba syndrome (BRRS, sometimes referred to as Bannayan−Zonana syndrome, Myhre−Riley−Smith syndrome, Riley−Smith syndrome, Ruvalcaba−Myhre−Smith syndrome, and Ruvalcaba−Myhre syndrome) is a rare congenital disorder that typically displays macrocephaly, developmental delay, lipomas, hemangiomas, and pigmented macules of the genitalia [1].
Hemangiomas and vascular malformations
Published in Prem Puri, Newborn Surgery, 2017
Belinda Hsi Dickie, Arin K. Greene, Steven J. Fishman
The PTEN (phosphatase and tensin homologue) gene encodes a tumor suppressor lipid phosphatase.91 Patients with PTEN mutations have PTEN hamartoma-tumor syndrome (PHTS). This autosomal dominant condition had previously been referred to as Cowden syndrome or Bannayan–Riley–Ruvalcaba syndrome (BRRS).85,92 Males and females are equally affected, and approximately one-half (54%) of patients have a unique fast-flow vascular anomaly with arteriovenous shunting, referred to as a PTEN-associated vascular anomaly (PTEN-AVA).85 Unlike typical AVM, PTEN-AVA may be multifocal, is associated with ectopic adipose tissue, and has disproportionate, segmental dilation of the draining veins.85,87 Patients with PHTS have macrocephaly, and males have penile freckling.85 Histopathology shows skeletal muscle infiltration with adipose tissue, fibrous bands, and lymphoid aggregates. In addition, tortuous arteries with transmural muscular hyperplasia and clusters of abnormal veins with variable smooth muscle are present.85 Genetic testing is confirmative; the mutation is associated with multiple benign and malignant tumors, which require surveillance.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Differential diagnosis:Proteus-like syndrome: this entity is not well defined. It includes individuals with features typical of PS but who do not fully meet the diagnostic criteria. A proportion of these cases carry a mutation in the gene PTEN. Klippel-Trenaunay-Weber syndrome: vascular (capillary, lymphatic and venous) malformations, particularly cutaneous haemangiomata, associated with soft tissue and bony hypertrophy; asymmetric overgrowth is present at birth, and may be more severe than that of Proteus syndrome. Subcutaneous tumours, cerebriform connective tissue naevi and hyperostosis of the calvarium are not part of this condition. CLOVE syndrome: Congenital Lipomatous Overgrowth, Vascular malformations, and Epidermal naevi. It is extremely rare, the cause is unknown. Vascular anomalies are progressive, while bony overgrowth is not, unless in areas which have undergone surgery. Other common features are disproportionate fat distribution, scoliosis, cranial asymmetry and brain anomalies (hemimegalencephaly, dysgenesis of corpus callosum, neuronal migration defects), seizures. Isolated hemihyperplasia: abnormality of cell proliferation, with an increase in cell number, which leads to an asymmetric overgrowth of one or more body segments. It can be due to imprinting defects at the locus 11p15. There is a higher risk of embryonal cancers in childhood, particularly Wilms’ tumour. Linear sebaceous naevus syndrome: linear, verrucous, pigmented lesions, ichthyosis hystrix, acanthosis nigricans, haemangiomas and café au lait spots. Associated complications include mental retardation (Feuerstein-Mims syndrome), seizures, cranial nerve palsies, hydrocepha-lus, hemimegalencephaly, renal tumours, vitamin D-resistant rickets, bone cysts and deformity, and kyphosis/scoliosis. Bannayan-Riley-Ruvalcaba syndrome: macrocephaly and subcutaneous tumours which are either lipomas or haemangiomas, cutis mar-morata telangiectasia congenita, lipid storage myopathy. Hashimoto thyroiditis and juvenile intestinal polyps are associated features. Encephalocraniocutaneous lipoma-tosis: macrocephaly, lipodermoids involving the conjunctiva, sclera or eyelids, and lipomatous swellings over the cranium or face. Mental retardation is often a feature with cerebral atrophy, sometimes unilateral, or porencephalic cysts. Intracranial calcifications similar to those seen in Sturge-Weber syndrome have been described. The lipomatous lesions might be more widespread intracranially with infiltration of the cranial bones.
Vulvar acrochordons arranged in a linear pattern
Published in Journal of Obstetrics and Gynaecology, 2018
Sanjay Singh, Alok Kumar Sahoo, Neetu Bhari, Savita Yadav
Skin tags, also designated as acrochordons or fibroepithelial polyps (FEPs), are small, soft, flesh coloured to dark brown, pedunculated outgrowth of epidermal and dermal tissue that commonly occur on neck, axillae, eyelids and in rare cases are seen around the genital region (Garg and Baveja 2015). It can affect any age including infants and is frequently seen in isolation, but in some cases, it can be associated with colonic polyps (Gardner syndrome), acromegaly, Birt-Hogg-Dube syndrome, Bannayan-Riley-Ruvalcaba syndrome and Nonne-Milroy-Meiges syndrome (Gould et al. 1988; Orosz et al. 2005; Erkek et al. 2005; Garg and Baveja 2015). In acquired cases, proposed aetiological factors include obesity, metabolic problems, hyperinsulinemia and human papilloma virus infection (Canalizo-Almeida et al. 2007). Hormone imbalances may facilitate the development of skin tags (e.g. high levels of oestrogen and progesterone during pregnancy). Estrogen and androgen receptor has been found to be upregulated in skin tags compared to normal skin (Bakry et al. 2014). None of these risk factors were present in our patient. Though, they were classified as a benign skin tumour, there were rarely reported cases of basal cell and squamous cell carcinoma associated with these growths (Chiritescu and Maloney 2001; Schwartz et al. 2004; Agir et al. 2005).