In addition, the case reports in this issue are rare and interesting cases in the literature such as "Bannayan-Riley-Ruvalcaba syndrome
", "Stenotrophomonas maltophilia sepsis presenting with perianal cellulitis" and "Renal lymphangiectasia".
The phenotypic spectrum of PTEN-related syndromes includes two allelic disorders linked to mutations in the PTEN gene: Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
These syndromes, whose characteristics are summarized in Table 1, include Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome, and Bannayan-Riley-Ruvalcaba syndrome
PTEN mutations are related to a variety of rare syndromes, collectively known as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome
(BRRS), and Proteus and related syndromes , although the latter association remains somewhat controversial [6, 7].
They occur in Corney complex, Peutz-Jeghers syndrome, LEOPARD syndrome, LaugierHunziker disease and Bannayan-Riley-Ruvalcaba syndrome
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome
. J Pediatr Surg.
* Genetic disease such as Li-Fraumeni syndrome, Cowden syndrome, or Bannayan-Riley-Ruvalcaba syndrome
, or has a first-degree relative with one of them.
: This genetic disorder presents in childhood with macrocephaly and genital pigmentation and may develop multiple hamartomas (lipomas and haemangiomas), thyroid neoplasms and autoimmune thyroiditis, as well as gastrointestinal hamartomas.