The Management of Midline Frontonasal Dermoids

Moses, Mike A.; Green, Ben C.; Cugno, Sabrina; Hayward, Richard; Jeelani, Owase; Britto, Jonathan A.; Bulstrode, Neil; Dunaway, David

doi:10.1097/prs.0000000000000833

Cited by 26 publications

(3 citation statements)

References 36 publications

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“…MRI characteristics of dermoid cysts have previously been described as hyperintense on T1W images and heterogeneous on T2W images, depending on the fat content. 5,28,29 In this case, the dermoid cyst had heterogeneous hyperintensity on both T1W and T2W images. It has been suggested that the diffusion-weighted imaging (DWI)/apparent diffusion coefficient (ADC) may be useful in differentiating dermoid cysts from other cystic masses, with dermoid cysts typically demonstrating hyperintensity on DWI and isointensity on ADC (compared with brain parenchyma); in this case the cystic contents were DWI hyperintense and ADC isointense to hypointense.…”

Section: Discussionmentioning

confidence: 65%

“…In people, surgical excision is recommended over medical management owing to susceptibility of the lesions to recurrent infections and complications associated with continued growth and subsequent mass effect. 23,29 Surgical excision is reported to carry an excellent prognosis when removal of all cystic lining and contents is complete; recurrence rates of up to 100% are reported with incomplete excision. 11,28…”

Section: Discussionmentioning

confidence: 99%

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Nasal dermoid cyst with intracranial extension in a cat

Brady

Bell²,

Courtman

et al. 2019

Journal of Feline Medicine and Surgery Open Reports

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Case summaryAn 11-month-old female neutered Ragdoll cat was presented for focal seizures, aggression and altered behaviour. A diagnosis of a nasal dermoid cyst with intracranial extension was made following MRI, cytology and histopathology. The cyst was surgically excised with a resolution of clinical signs, with the exception of ongoing seizure activity requiring anti-seizure medication.Relevance and novel informationTo our knowledge, this is the first reported case of a nasal dermoid cyst in a cat, and the first reported case in the veterinary literature of any species with a nasal dermoid cyst presenting with neurological signs.

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Section: Discussionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Nasal dermoid cyst with intracranial extension in a cat

Brady

Bell²,

Courtman

et al. 2019

Journal of Feline Medicine and Surgery Open Reports

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“…The combination of craniofacial, scalp and cardiac phenotypes in the father and daughter appeared highly distinctive. In particular, although many clinical disorders have been described that include frontonasal malformations, dermoids or lipomas, [40][41][42] presentation of frontonasal lipomas with these additional phenotypes appears extremely rare. We found a potential match to a case report describing aplasia cutis congenita, congenital heart lesions and frontonasal cysts in four successive generations, 43 however, it was not possible to contact the affected family to undertake genetic testing.…”

Section: Identification Of Heterozygous Variants In the Btb Domain Of...mentioning

confidence: 99%

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

Miller,

Cruz Walma,

Pinkas

et al. 2024

J Med Genet

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IntroductionKCTD15encodes an oligomeric BTB domain protein reported to inhibit neural crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation by TFAP2. Heterozygous missense variants in the closely related paralogue KCTD1 cause scalp-ear-nipple syndrome.MethodsExome sequencing was performed on a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease. Identification of a de novo missense substitution withinKCTD15led to targeted sequencing of DNA from a similarly affected sporadic patient, revealing a different missense mutation. Structural and biophysical analyses were performed to assess the effects of both amino acid substitutions on the KCTD15 protein.ResultsA heterozygous c.310G>C variant encoding p.(Asp104His) within the BTB domain ofKCTD15was identified in an affected father and daughter and segregated with the phenotype. In the sporadically affected patient, a de novo heterozygous c.263G>A variant encoding p.(Gly88Asp) was present in KCTD15. Both substitutions were found to perturb the pentameric assembly of the BTB domain. A crystal structure of the BTB domain variant p.(Gly88Asp) revealed a closed hexameric assembly, whereas biophysical analyses showed that the p.(Asp104His) substitution resulted in a monomeric BTB domain likely to be partially unfolded at physiological temperatures.ConclusionBTB domain substitutions in KCTD1 and KCTD15 cause clinically overlapping phenotypes involving craniofacial abnormalities and cutis aplasia. The structural analyses demonstrate that missense substitutions act through a dominant negative mechanism by disrupting the higher order structure of the KCTD15 protein complex.

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