Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Bendon, Charlotte L.; Fenwick, Aimée L.; Hurst, Jane A.; Nürnberg, Gudrun; Nürnberg, Peter; Wall, Steven A.; Wilkie, Andrew O.M.; Johnson, David

doi:10.1186/1471-2350-13-104

Cited by 25 publications

(32 citation statements)

References 27 publications

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“…Adult patients with this syndrome have been characterized as having acne conglobata with hypertrophic scarring and thickened skin . FTHS is inherited as an autosomal recessive trait and is caused by loss‐of‐function mutations and deletions in SH3PXD2B on chromosome 5q35·1 . SH3PXD2B codes for TKS4, a tyrosine kinase substrate adaptor protein required for podosome maturation.…”

Section: Human Monogenic Disorders That Cause Acnementioning

confidence: 99%

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What does acne genetics teach us about disease pathogenesis?

2019

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Summary Background Acne vulgaris is a highly prevalent inflammatory skin disorder with a complex pathogenesis, characterized by comedones, papules, pustules and nodules. Familial preponderance clearly indicates a genetic basis for acne vulgaris, but until recently solid genetic associations were lacking. Results The advent of high‐resolution genotyping array technologies has allowed for large‐scale studies with both family‐based and cross‐sectional designs. These studies have revealed genetic loci encompassing genes that could be active in biological pathways and processes underlying acne vulgaris. However, specific functional consequences of those variants remain elusive. In parallel, investigations into rare disorders and syndromes that incorporate features of acne or acne‐like lesions have recently accelerated our understanding of disease pathogenesis. The genes revealed by these rare disorders highlight mechanisms cardinal for pilosebaceous biology and therefore anchor our insights from genetic association studies for acne vulgaris. Conclusions The next phase of research will require more in‐depth mechanistic investigations of loci and genes implicated in acne phenotypes to define the key molecular players driving the disorder. Concurrently, new treatments for acne vulgaris could be developed by dissecting the candidate molecular pathways to identify druggable targets.

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Section: Human Monogenic Disorders That Cause Acnementioning

confidence: 99%

“…68 FTHS is inherited as an autosomal recessive trait and is caused by loss-of-function mutations and deletions in SH3PXD2B on chromosome 5q35Á1. [69][70][71][72] SH3PXD2B codes for TKS4, a tyrosine kinase substrate adaptor protein required for podosome maturation.…”

Section: Frank-ter Haar Syndrome (Mim 249420)mentioning

confidence: 99%

What does acne genetics teach us about disease pathogenesis?

2019

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“…), Frank‐ter Haar syndrome (Bendon et al. ) and Turner's syndrome (Sculerati et al. ), the Eustachian tube angle and position does not develop correctly due to a broad range of craniofacial defects: this again can lead to a higher incidence of otitis media.…”

Section: Development Of Other Middle Ear Structuresmentioning

confidence: 99%

The development of the mammalian outer and middle ear

2015

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The mammalian ear is a complex structure divided into three main parts: the outer; middle; and inner ear. These parts are formed from all three germ layers and neural crest cells, which have to integrate successfully in order to form a fully functioning organ of hearing. Any defect in development of the outer and middle ear leads to conductive hearing loss, while defects in the inner ear can lead to sensorineural hearing loss. This review focuses on the development of the parts of the ear involved with sound transduction into the inner ear, and the parts largely ignored in the world of hearing research: the outer and middle ear. The published data on the embryonic origin, signalling, genetic control, development and timing of the mammalian middle and outer ear are reviewed here along with new data showing the Eustachian tube cartilage is of dual embryonic origin. The embryonic origin of some of these structures has only recently been uncovered (Science, 339, 2013(Science, 339, , 1453 Development, 140, 2013, 4386), while the molecular mechanisms controlling the growth, structure and integration of many outer and middle ear components are hardly known. The genetic analysis of outer and middle ear development is rather limited, with a small number of genes often affecting either more than one part of the ear or having only very small effects on development. This review therefore highlights the necessity for further research into the development of outer and middle ear structures, which will be important for the understanding and treatment of conductive hearing loss.

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“…2,5,6,10 Additionally in our case, thickened roof of glenoid fossas, a large right coronoid process and follicular hyperplasias were seen.…”

Section: Discussionmentioning

confidence: 82%

“…[2][3][4][5][6] The first cases were reported by Frank et al 7 and ter Haar et al 8 These cases were considered a variation of Melnick-Needles syndrome but were classified as a different entity called Frank-ter Haar syndrome because of the accompanying congenital cardiac defects and autosomal recessive inheritance pattern. 2 Therapeutic actions are usually based on the symptoms: ophthalmology, neurology, cardiology, genetics, physiotherapy, orthopaedics and rehabilitation. Dentomaxillofacial assessment should also be included because of several oral complications.…”

Section: Introductionmentioning

confidence: 99%