Neuroimaging Features in Congenital Trichomegaly: The Oliver‐McFarlane Syndrome

Pedroso, José Luiz; Rivero, René Leandro Magalhães; Miranda, Victor Alexandre D. de; Avelino, Marcela Amaral; Dutra, Lívia Almeida; Ribeiro, Rodrigo Souza; Nunes, Karlo Faria; Manzano, Gilberto Mastrocola; Barsottini, Orlando Graziani Póvoas

doi:10.1111/jon.12025

Cited by 4 publications

(1 citation statement)

References 6 publications

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“…Oliver–McFarlane syndrome is an autosomal recessive (AR) disorder associated with chorioretinal degeneration, growth hormone deficiency, hair abnormalities (such as eyelash trichomegaly and scalp alopecia), and cerebellar dysfunction 108–115 . It is linked to PNPLA6 gene dysfunction, which codes for neuropathy target esterase, a protein critical for the stability of nerve membranes; however, exact mechanism behind the aberrant hair growth is currently unknown 112 .…”

Section: Resultsmentioning

confidence: 99%

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes

Hutchison

Duffens

Yale

et al. 2021

Acad Dermatol Venereol

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Long eyelashes have been popularized and many commercially available products exist to achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be induced by medications, procedures, or be related to medical conditions; however, the exact mechanisms that govern eyelash growth are not well elucidated. This study aims to identify and summarize aetiologies associated with eyelash trichomegaly. We report a systematic review of 148 clinical trials, prospective and retrospective studies, and case reports describing all evidence‐based potential aetiologies of eyelash trichomegaly obtained from the Medline/PubMed and Cochrane Library through January 2021. Inclusion criteria were defined as (i) human studies involving congenital and acquired diseases in which eyelash trichomegaly is a characteristic or (ii) assessment of trichomegaly as an adverse or desired effect of a medication or procedure. Exclusion criteria included: animal studies, articles not available in English, outcomes unrelated to eyelash trichomegaly, and secondary review articles. Pharmacologic agents associated with eyelash trichomegaly included prostaglandin analogues (15‐keto fluprostenol isopropyl ester, bimatoprost, latanoprost, and travoprost), epidermal growth factor receptor inhibitors (cetuximab, erlotinib, and panitumumab), interferon‐alpha, and calcineurin inhibitors (tacrolimus and cyclosporine). Surgical procedures of the eyelid, as well as allergic rhinitis, atopic dermatitis, HIV, ichthyosis vulgaris (IV), uveitis, and vernal keratoconjunctivitis were also associated with increased eyelash growth. Congenital disorders associated with lengthened eyelashes included Cantú syndrome, CHOPS syndrome, Coffin–Siris syndrome, congenital heart disease, Cornelia de Lange syndrome, Costello syndrome, familial trichomegaly, Floating Harbor syndrome, Hermansky–Pudlak syndrome, Kabuki–Makeup syndrome, KBG syndrome, Oliver–McFarlane syndrome, Rubinstein–Taybi syndrome, and Smith–Magenis syndrome. While the most common cause of eyelash trichomegaly is topical bimatoprost use, better understanding of pathways implicated in eyelash trichomegaly may lead to the discovery of additional medications to stimulate eyelash growth and create avenues for future therapeutic interventions.

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Section: Resultsmentioning

confidence: 99%

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes

Hutchison

Duffens

Yale

et al. 2021

Acad Dermatol Venereol

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Oliver McFarlane syndrome and choroidal neovascularisation: a case report

Makuloluwa

Dodeja

Georgiou

et al. 2020

Ophthalmic Genetics

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We report the first case of choroidal neovascularisation (CNV) secondary to Oliver McFarlane syndrome diagnosed in a ten-year-old white female who presented with reduced visual acuity and a macular haemorrhage in her right eye. CNV was confirmed on optical coherence tomography. She was initially treated with a single injection of intravitreal bevacizumab and 2 years later with an injection of intravitreal ranibizumab for a recurrence.Although macular scarring secondary to the CNV was observed, her vision has stabilised and she continues to be closely monitored.

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