Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)

Skarżyńśki, Henryk; Podskarbi-Fayette, Robert

doi:10.1016/j.ijporl.2008.09.021

Cited by 8 publications

(9 citation statements)

References 20 publications

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“…Multiple tumours of the head and neck have also been found (as well as elsewhere on the body) with the largest of these being 6×8 cm in size. After previous failed therapies of dexamethasone spray, curettage and cryotherapy, a Sharplan CO2 laser used in 8 W mode, single pulse with a spot size of 2–1 mm diameter was used with only a small area of recurrence at 6 months requiring repeat therapy 5. It is worth noting that these were dermal lesions as opposed to lesions of aero-digestive tract as in this case.…”

Section: Discussionmentioning

confidence: 93%

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Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

et al. 2019

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Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. More frequently, patients present to the ear–nose–throat clinic with symptoms of dysphagia, secondary to papillomatosis. A 36-year-old woman presented with pain, irritation and dysphagia with a known diagnosis of FDH. She was subsequently investigated with an oesophago-gastro-duodenoscopy, Barium Swallow and an MRI neck scan with contrast. Lymphoid hyperplasia was found on investigation and the patient underwent a panendoscopy with CO2 laser to the lesion with good clinical outcome. This case report highlights the need for multidisciplinary team involvement to ensure full consideration of management options.

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Section: Discussionmentioning

confidence: 93%

“…Mixed severe hearing loss has been described and associated with FDH in the literatures. In one case, an exploratory tympanotomy revealed congenital ossicular anomalies and facial nerve malformation, therefore emphasising the importance of further otological investigation for this cohort of patients 5…”

Section: Discussionmentioning

confidence: 93%

Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

et al. 2019

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“…Because of the issues concerning absent cilia, inflammation, abnormal Eustachian tube structure, and clefting of the palate, the etiology of CHL in AEC patients is very likely multifactorial. This could explain why the hearing issues in these patients appears to be more severe than seen in patients with other EDs, such as EEC syndrome [Skarzynski and Podskarbi‐Fayette, 2009]. Interestingly, systematic reviews of the literature have demonstrated that CHL is more frequently seen when these patients have a cleft palate [Roelfsema and Cobben, 1996].…”

Section: Discussionmentioning

confidence: 99%

Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects‐cleft lip/palate (AEC) syndrome

Cole

Hatef

Kaufman

et al. 2009

American J of Med Genetics Pt A

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Ankyloblepharon–ectodermal defects‐cleft lip/palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as cleft lip and palate, and various secondary issues such as chronic sinusitis, otitis media, and conductive hearing loss (CHL). The International Research Symposium for AEC Syndrome convened at Baylor College of Medicine in Houston, Texas. Patients with a suspected diagnosis of AEC syndrome attended, and members of the dental, dermatology, plastic surgery, otolaryngology, and audiology services examined each patient. Eighteen patients with a diagnosis of AEC were evaluated. Mean age was 7.5 years (range: 4 months–30 years). Fourteen of the 15 subjects tested (93.33%) demonstrated CHL, with seven showing moderate to severe hearing deficits (41–90 dB). Nine of 13 respondents reported hoareness or voice problems; 8 were noted to display this on examination. Fourteen of 16 subjects reported speech was below average for age; 8 were in speech therapy. All 18 subjects reported a history of otitis externa or otitis media. Eleven of the subjects (61.11%) required myringotomy and pressure equalizing (PE) tubes. All patients demonstrated cleft palate defects. Of these, 16 (94.11%) presented with clefting of the soft palate, and 10 (58.82%) showed hard palate defects. Three subjects (16.67%) were noted to have submucous clefts. Our experience leads us to propose that while the oroauditory problems in those with AEC syndrome is likely multifactorial, many issues may stem from palatal clefting. Despite this, some abnormalities persist following surgical cleft closure, which indicates other complicating factors are also involved. © 2009 Wiley‐Liss, Inc.

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“…Są to plamy skórne z brakiem pigmentacji, ścieńczenie skóry, zmiany brodawczakowate związane głównie z okolicami głowy i szyi, które mogą mieć związek z zakażeniem wirusem ludzkiego brodawczaka. Zmianom tym towarzyszą zaburzenia układu kostno--stawowego dotyczące przede wszystkim palców rąk i stóp jako dodatkowe palce, braki czy zrosty obecnych (polidaktylia, oligodaktylia, syndaktylia), rozszczepy podniebienia, częściowa lub całkowita utrata owłosienia głowy, zaburzenia zębów, paznokci i inne rzadsze [4][5][6][7][8][9][10].…”

Section: Wstępunclassified

“…Chorzy prezentują niedosłuch o charakterze przewodzeniowym, odbiorczym lub mieszanym. W poszczególnych przypadkach zespołu zaobserwowano: różnego stopnia deformacje małżowiny usznej, atrezję przewodu słuchowego zewnętrznego, przewlekłe wysiękowe zapalenie ucha środkowego, dodatkowe wyrośla przeduszne, przewlekłe perlakowe zapalenie ucha, malformacje ucha wewnętrznego, zaburzenia nerwu przedsionkowo-ślimakowego i inne [10].…”

Section: Wstępunclassified

Application of the middle ear implant Vibrant Soundbridge in a child with Goltz-Gorlin syndrome with unilateral congenital atresia and mixed hearing loss

Skarżyńśki¹,

Porowski²

2020

Now Audiofonol

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Cel: celem pracy było przedstawienie procedury chirurgicznej oraz wyników zastosowania implantu ucha środkowego Vibrant Soundbridge u dziecka płci żeńskiej z zespołem Goltza-Gorlina z obustronnym asymetrycznym niedosłuchem mieszanym oraz wadą ucha zewnętrznego i środkowego w postaci mikrocji, atrezji przewodu słuchowego zewnętrznego oraz złożonej wady kosteczek słuchowych.Metoda: w leczeniu niedosłuchu zastosowano wszczepienie implantu ucha środkowego Vibrant Soundbridge z zakotwiczeniem przetwornika FMT na zdeformowanym bloku kosteczek słuchowych z dojścia przez antromastoidektomię i attykotomię tylną.Wyniki: wyniki wczesne oraz po 2-letniej obserwacji są bardzo dobre. Nie zaobserwowano powikłań podczas operacji oraz w przebiegu procesu gojenia. Pooperacyjne badanie audiometrii tonalnej nie wykazało zmian w stosunku do badania sprzed operacji.Wnioski: Vibrant Soundbridge jest bardzo dobrym rozwiązaniem w złożonych wadach ucha zewnętrznego i środkowego, w tym w zespole Goltza-Gorlina. Procedura otochirurgiczna wymaga dużego doświadczenia, które pozwoli w różnym stopniu niedorozwoju ucha środkowego na jego bezpieczne otwarcie, uruchomienie istniejącego w całości lub części łańcucha kosteczek słuchowych i umocowanie zakończenia elektrody stymulującej (przetwornika FMT).

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Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)

Cited by 8 publications

References 20 publications

Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects‐cleft lip/palate (AEC) syndrome

Application of the middle ear implant Vibrant Soundbridge in a child with Goltz-Gorlin syndrome with unilateral congenital atresia and mixed hearing loss

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