Brooke-Spiegler Syndrome Associated with Ulcerative Rectosigmoiditis

Peltonen, Sirkku; Kankuri-Tammilehto, Minna

doi:10.2340/00015555-1391

Cited by 4 publications

(4 citation statements)

References 14 publications

(36 reference statements)

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“…1,7 It exerts a tumor suppressor effect by negative regulation of the intracellular signalling pathways of NF-κB, JNK and Wnt. 4,5 CYLD mutations ultimately increase NF-κB expression, leading to resistance to apoptosis and facilitating tumor development. 4,5 There are currently at least 93 known germline mutations of CYLD, most of them involving its 3' terminal, which translates the catalytic domain of the enzyme (exons 8-20).…”

Section: Discussionmentioning

confidence: 99%

“…4,5 CYLD mutations ultimately increase NF-κB expression, leading to resistance to apoptosis and facilitating tumor development. 4,5 There are currently at least 93 known germline mutations of CYLD, most of them involving its 3' terminal, which translates the catalytic domain of the enzyme (exons 8-20). 3 About 90% of the tumor-eliciting mutations result in a truncated CYLD protein and are mainly of frameshift or nonsense type.…”

Section: Discussionmentioning

confidence: 99%

“…The most common ablative therapies consist of classical excision, dermoabrasion, CO 2 or erbium-YAG lasers, or cryotherapy. 5,8 In the case of cylindromas, enucleation has been successfully used for simultaneous but minimally aggressive removal of multiple lesions. 13 Total scalp excision followed by combined reconstruction with artificial dermis and split skin graft has been used in turban tumor cases, with good results.…”

Section: 3810mentioning

confidence: 99%

“…This probably reflects the physiological importance and ubiquity of CYLD protein expression. 1,5,6 Despite the growing number of mutations reported over the last decade, there is no defined genotype-phenotype correlation in BSS. 1,3,7 We describe two members of a family affected by multiple nodular scalp lesions, present for decades and with clinical and histological features consistent with BSS and confirmed after identification of a new germline mutation of CYLD gene.…”

Section: Introductionmentioning

confidence: 99%

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Brooke-Spiegler Sydrome – an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

Pinho

Gouveia

Gameiro

et al. 2015

J Dermatol Case Rep

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Background: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis.Main observations: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband.Conclusions: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor". (J Dermatol Case Rep. 2015; 9(3): 67-70)

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: 3810mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Brooke-Spiegler Sydrome – an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

Pinho

Gouveia

Gameiro

et al. 2015

J Dermatol Case Rep

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Síndrome de Brooke-Spiegler, una rara entidad: reporte de 2 casos

Figueroa

Cardenas

Telias

et al. 2017

Piel

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The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

et al. 2014

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Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel diseases (monogenic IBD). Patients with these disorders often develop symptoms during infancy or early childhood, along with endoscopic or histologic features of Crohn’s disease, ulcerative colitis or IBD unclassified. Defects in interleukin 10 signaling have a Mendelian inheritance pattern with complete penetrance of intestinal inflammation. Several genetic defects that disturb intestinal epithelial barrier function or affect innate and adaptive immune function have incomplete penetrance of the IBD-like phenotype. Several of these monogenic conditions do not respond to conventional therapy and are associated with high morbidity and mortality. Due to the broad spectrum of these extremely rare diseases, a correct diagnosis is frequently a challenge and often delayed. In many cases, these diseases cannot be categorized based on standard histologic and immunologic features of IBD. Genetic analysis is required to identify the cause of the disorder and offer the patient appropriate treatment options, which include medical therapy, surgery, or allogeneic hematopoietic stem cell transplantation. In addition, diagnosis based on genetic analysis can lead to genetic counseling for family members of patients. We describe key intestinal, extra-intestinal, and laboratory features of 50 genetic variants associated with IBD-like intestinal inflammation. We provide approaches for identifying patients likely to have these disorders. We discuss classical approaches to identify these variants in patients, starting with phenotypic and functional assessments that lead to analysis of candidate genes. As a complementary approach, we discuss parallel genetic screening using next-generation sequencing followed by functional confirmation of genetic defects.

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Brooke-Spiegler Syndrome Associated with Ulcerative Rectosigmoiditis

Cited by 4 publications

References 14 publications

Brooke-Spiegler Sydrome – an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

Brooke-Spiegler Sydrome – an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

Síndrome de Brooke-Spiegler, una rara entidad: reporte de 2 casos

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

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