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Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomas Treated with Liquid Nitrogen Cryotherapy.

ABSTRACT: Reed's syndrome is an autosomal dominant genetic disorder. Affected individuals are at increased risk of developing benign smooth muscle tumors in the skin and uterus. In this article, we report a case of a 52-year-old female who presented to our dermatology clinic complaining of painful skin lesions on her right arm, left forearm and trunk. The patient had a past medical history of uterine leiomyomatosis for which she underwent hysterectomy 17 years ago. The patient's family history revealed that her mother, 2 sisters and 2 maternal aunts also had uterine leiomyomas. The diagnosis of Reed's syndrome was confirmed by histopathologic examination of the patient's dermal lesion in conjunction with her surgical and family histories. Five years after the initial presentation, the patient underwent treatment with liquid nitrogen cryotherapy for the dermal leiomyomas. After the treatment, marked improvement was noticed with regard to the pain and size of the skin lesions.

SUBMITTER: Basendwh MA

PROVIDER: S-EPMC4821152 | biostudies-literature | 2016 Jan-Apr

REPOSITORIES: biostudies-literature

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Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomas Treated with Liquid Nitrogen Cryotherapy.

Basendwh Mohammad A MA Fatani Mohammad M Baltow Badee B

Case reports in dermatology 20160101 1

Reed's syndrome is an autosomal dominant genetic disorder. Affected individuals are at increased risk of developing benign smooth muscle tumors in the skin and uterus. In this article, we report a case of a 52-year-old female who presented to our dermatology clinic complaining of painful skin lesions on her right arm, left forearm and trunk. The patient had a past medical history of uterine leiomyomatosis for which she underwent hysterectomy 17 years ago. The patient's family history revealed th ...[more]

PMID: 27064320

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Project description:Background and aimsGastric intestinal metaplasia with dysplasia (GIM-D) that is visible as a discrete limited lesion on endoscopy is readily treated using endoscopic mucosal resection or endoscopic submucosal dissection. However, there are few options for more extensive and invisible dysplasia. Ablating a wide swath of tissue with argon plasma coagulation or radiofrequency ablation can be challenging and carries risks, including postprocedure ulceration. Liquid nitrogen spray cryotherapy is an established treatment for dysplasia in Barrett's esophagus, but its use for GIM-D has not been previously reported.MethodsThree patients with intramucosal adenocarcinoma and GIM-D underwent a total of 10 sessions of spray cryotherapy. In all cases, spray cryotherapy was performed after passing an orogastric decompression tube into the stomach for active suctioning. Ablations were performed in cycles of 20 to 40 seconds, with at least 45 seconds between cycles to allow for tissue thawing. Between 2 and 7 ablations were performed during each procedure. Before each procedure, Sydney protocol biopsy specimens were obtained. No patient reported any postprocedure adverse events.ResultsThe first patient underwent 3 sessions of spray cryotherapy; there was no evidence of GIM-D after 1 session, no evidence of gastric intestinal metaplasia after 3 sessions, and no recurrence after 29 months. The second patient underwent 5 sessions of spray cryotherapy; after 1 session there was no adenocarcinoma, and at 14 months there was only GIM-D. The third patient underwent 2 spray cryotherapy sessions, and after 1 session there was gastric intestinal metaplasia but no GIM-D.ConclusionsVery few treatment modalities exist for extensive GIM-D. We present 3 cases in which off-label spray cryotherapy was used to treat extensive high-grade dysplasia with good treatment effect and patient tolerance. This adds to the body of literature supporting spray cryotherapy as a safe, well-tolerated, and effective treatment for extensive GIM-D.

Project description:Backgroundcardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications.Case presentationthe patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.Conclusionthis paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.

Dataset Information

Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomas Treated with Liquid Nitrogen Cryotherapy.

Publications

Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomas Treated with Liquid Nitrogen Cryotherapy.

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