Hereditary Tumor Syndromes with Skin Involvement

This article provides a brief description of the pathogenesis and clinical manifestations of various inherited disorders with skin involvement, along with treatment updates. Advances in molecular-based therapy have spurred development of novel treatment methods for various genodermatoses such as xeroderma pigmentosum (XP) and Gorlin-Goltz syndrome. Further studies are needed to better assess the efficacy of many of these new treatment options.
Source: Dermatologic Clinics - Category: Dermatology Authors: Source Type: research

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SAN FRANCISCO– December 2, 2019– PellePharm, Inc., a BridgeBio Pharma, Inc. (Nasdaq: BBIO) company, today announced the completion of enrollment for its pivotal Phase 3 clinical trial of Patidegib Topical Gel 2% vs. vehicle gel in...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
Abstract A 76-year-old woman with intellectual deficit presented with a small, pearly, telangiectatic raised lesion on the left cheek, together with an ulcerated lesion on the right side of the nose (Figure 1), which were clinically diagnosed as basal cell carcinomas (BCCs.) These were treated with cryotherapy. The patient had had a right hemimandibulectomy (Figure 1), and she showed frontal and temporal bossing and a wide nasal bridge. PMID: 31782707 [PubMed - in process]
Source: Skinmed - Category: Dermatology Authors: Tags: Skinmed Source Type: research
The article presents a case report and literature review of hemifacial microsomia with cervical vertebral anomalies. Unilateral hypoplasia of the mandible, congenital anomalies of the external ear and cervical spine pathology identified in this case are common major signs/symptoms of Goldenhar (Goldenhar-Gorlin) syndrome. Complete fusion of bodies and spinous processes of the second and third cervical vertebrae as well as atlantooccipital assimilation and anterior cleft of the atlas were also found. All abnormalities were accidentally identified and not accompanied by clinical symptoms.
Source: Journal of Radiology Case Reports - Category: Radiology Source Type: research
Gorlin –Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carr...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Opinion statementAdvanced basal cell carcinoma (BCC) represents a small proportion of BCCs that are not amenable to standard therapies due to lack of efficacy, high recurrence risk, and excessive morbidity. Implication of the Sonic hedgehog (Shh) pathway in the development of BCC has led to the development of systemic Shh pathway inhibitors, providing patients with advanced BCCs new treatment options and improved survival. There are currently two Food and Drug Administration (FDA) –approved Shh inhibitors, vismodegib and sonidegib, for advanced basal cell carcinomas. Vismodegib has approval for locally advanced BCCs ...
Source: Current Treatment Options in Oncology - Category: Cancer & Oncology Source Type: research
CONCLUSION: We demonstrate how a CTTP can be developed in a community hospital through collaboration with the blood supplier, hospital, and clinical care team. A model of incorporating RBC genotyping informs risk for alloimmunization and allows consideration of transfusion strategy for providing prophylactic antigen matched blood. PMID: 31758587 [PubMed - as supplied by publisher]
Source: Transfusion - Category: Hematology Authors: Tags: Transfusion Source Type: research
Discussion Holoprosencephaly (HPE) is a clefting problem of the brain. “[HPE] the result of incomplete or absent midline division of the embryonic forebrain into distinct cerebral hemispheres (prosencephalon) between the 18th and 28th day after conception.” There are four distinct subtypes: Alobar – both hemispheres are completely fused and are not separated into the left and right hemispheres. There is agenesis of the corpus callosum, arrhinencephaly and a single ventricle with fused thalami. Facial features are almost always affected. Semilobar – the cerebral hemispheres are fused anteriorly bu...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Condition:   Recurrent Basal Cell Carcinoma Interventions:   Drug: Patidegib Topical Gel, 2%;   Drug: Patidegib Topical Gel, Vehicle Sponsor:   PellePharm, Inc. Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusions: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
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