Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis

Rokunohe, Daiki; Nakano, Hajime; Akasaka, Eijiro; Toyomaki, Yuka; Sawamura, Daisuke

doi:10.1016/j.jdermsci.2016.06.005

Cited by 18 publications

(13 citation statements)

References 9 publications

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“…From a total of nine cases, four cases had two to five pilomatricomas, one had more than 10 and four had solitary pilomatricomas. 1 , 2 , 5 , 6 , 8 , 9 , 10 Furthermore, a series of four cases published in 1998 showed that, in this group of patients, the mean age of tumor onset was not earlier than in healthy patients, in whom most lesions appear between the ages of 8 months and 10 years. 9 …”

Section: Discussionmentioning

confidence: 86%

“…However, the correlation between the CREBBP genotype and the onset of multiple pilomatricomas still needs to be clarified, since there are also case reports that describe the CREBBP mutation in patients with RTS without pilomatricomas or with a solitary lesion. 5 …”

Section: Discussionmentioning

confidence: 99%

“…Although approximately 60% of cases are associated with mutations in the CREBBP or EP300 genes, the etiology of RTS is heterogeneous and poorly defined. 1 , 5 …”

Section: Introductionmentioning

confidence: 99%

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Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Bueno

Souza

Graziadio

et al. 2020

Anais Brasileiros de Dermatologia

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Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Bueno

Souza

Graziadio

et al. 2020

Anais Brasileiros de Dermatologia

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“…Spena et al also reported eight of 21 frameshift variations clustered in this region (Spena, Milani, et al, ). Hence, this region, especially base pairs 5,837 which have related four frameshift variants involved four RSTS patients (Rokunohe, Nakano, Akasaka, Toyomaki, & Sawamura, ; Spena, Milani, et al, ), may be a “hot spot” for frameshift and nonsense variants in RSTS patients. Another region locates in exon 2 at the 5′ end of the CREBBP .…”

Section: Discussionmentioning

confidence: 99%

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

Qian

et al. 2019

Molec Gen & Gen Med

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BackgroundRubinstein–Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics‐associated gene, CREBBP. To date, there is no cohort study of CREBBP variants in Chinese RSTS patients.MethodsIn this study, 18 kids who meet the main criteria of RSTS were recruited. Molecular diagnoses were analyzed by clinical exome sequencing (CES), and the medical records were reviewed retrospectively.ResultsNineteen novel CREBBP variants in 18 RSTS patients were identified, including two missense, four nonsense, five frameshift, one splicing variants, and seven intragenic deletions. A higher incidence (37%, 7/19) of intragenic deletions was detected. One patient who had two de novo missense variants c.[4112T > A, 4118C > A] in cis and one patient who had a de novo frameshift variant c.5837delC in homozygous state (90%) were found in this study. Compared with the previously reported populations, seven clinical features were different, including the higher incidence of polydactyly, syndactyly, microcephaly, and micrognathia, and the lower incidence of angulated thumbs, autistic behavior, and epilepsy. One patient with obesity in the first year was diagnosed with CREBBP gene exon 2 deletion, was initially suspected of Prader–Willi syndrome.ConclusionWe reported the genetic and clinical information of 18 RSTS patients from Chinese population with novel CREBBP variants. This study provides a new insight into RSTS and illustrates the value of applying CES which increases the diagnostic yields and enhances the clinical care of RSTS patients.

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“…Herein we report a case of Rubinstein‐Taybi syndrome (RSTS) associated with multiple pilomatricomas. It is characterized by well‐defined clinical features such as variable degrees of intellectual disability, broad short thumbs, and halluces, downslanting palpebral fissures, broad nasal bridge, hypotonia, skin problems including pilomatricomas, ingrown toenails, paronychia, hypertrichosis, and the tendency to form keloids . These dermatological findings are quite important and allow practitioners to suspect rapidly this particular and rare genodermatosis .…”

Section: Discussionmentioning

confidence: 99%