Exome sequencing identifies <i>FATP1</i> mutation in Melkersson–Rosenthal syndrome

Xu, Xiaowen; Guan, Liping; Yuan, Liang; Wan, Yinsheng; Wu, Yan; Rui, Qi; Liu, Zh.G.; Zhang, J.G.; Chen, Y.L.; Xu, Fengping; Xu, Xiaoli; Li, Y.H.; Geng, Long; Gao, Xinghua; Chen, H.D.

doi:10.1111/jdv.14042

Cited by 20 publications

(21 citation statements)

References 10 publications

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“…This would be consistent with SLC27A1 knockdown affecting differentiation without strongly perturbating the overall lipid composition of keratinocytes. Slc27a1 −/− mice do not exhibit skin phenotypes ( 39 ), and a loss-of-function mutation in humans linked to Melkersson–Rosenthal syndrome does not produce an epidermal phenotype ( 40 ). This potentially indicates the existence of compensatory mechanisms to maintain skin homeostasis in vivo.…”

Section: Discussionmentioning

confidence: 99%

Human epidermal stem cell differentiation is modulated by specific lipid subspecies

Rudan

Mishra

Klose

et al. 2020

Proc. Natl. Acad. Sci. U.S.A.

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While the lipids of the outer layers of mammalian epidermis and their contribution to barrier formation have been extensively described, the role of individual lipid species in the onset of keratinocyte differentiation remains unknown. A lipidomic analysis of primary human keratinocytes revealed accumulation of numerous lipid species during suspension-induced differentiation. A small interfering RNA screen of 258 lipid-modifying enzymes identified two genes that on knockdown induced epidermal differentiation: ELOVL1, encoding elongation of very long-chain fatty acids protein 1, and SLC27A1, encoding fatty acid transport protein 1. By intersecting lipidomic datasets from suspension-induced differentiation and knockdown keratinocytes, we pinpointed candidate bioactive lipid subspecies as differentiation regulators. Several of these—ceramides and glucosylceramides—induced differentiation when added to primary keratinocytes in culture. Our results reveal the potential of lipid subspecies to regulate exit from the epidermal stem cell compartment.

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Section: Discussionmentioning

confidence: 99%

Human epidermal stem cell differentiation is modulated by specific lipid subspecies

Rudan

Mishra

Klose

et al. 2020

Proc. Natl. Acad. Sci. U.S.A.

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“…To rule out rare cases of extramedullary plasmacytoma, look for monoclonal plasma cell dermal population and relevant clinical picture evolution. Other infectious agents may be considered, as well as atopic reaction to a wide variety of allergens, 24 hereditary diseases such as C1 esterase deficiency, 25 genetic factors as FATP1 mutation causing MRS, 26 and immunologic factors like OFG association with HLA‐A2 and HLA‐A11, which has never been reported in CD 27,28 …”

Section: Discussionmentioning

confidence: 99%

Oral lymphangiectasia and gastrointestinal Crohn disease

et al. 2020

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Lip edema with non-caseating granulomas or lymphangiectasia pose a clinical and pathological challenge. These findings can be attributed to cheilitis granulomatosa (CG), Melkersson-Rosenthal syndrome (MRS), or Crohn disease (CD) depending on the appropriate clinical context. Lymphangiectasis, in particular, is a common pathological finding in CD due to lymphatic obstruction by granulomas and intralymphatic granulomas. Because oral symptoms can precede gastrointestinal symptoms of CD or be seen in patients with asymptomatic gastrointestinal disease, the identification of lymphangiectasia should raise the possibility of underlying CD. We present a case of a young woman with several years of lip swelling, with notable lymphangiectasia and subtle granulomas on pathological evaluation. The patient was diagnosed with MRS at an outside institution and treated with systemic steroids, without further systemic evaluation. We believe that early recognition of lymphangiectasia and consideration of CD early in the work-up are critical for early diagnosis and appropriate management. Neither clinical nor histopathological findings should be used in isolation to diagnose GC, MRS, or CD as there is significant debate as to the etiology and overlapping findings of these conditions.

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“…Mutations in FATP1 (fatty acid transport protein) have been described in one family. 17 In another family, four generation of family members were affected due to an autosomal dominant transmission. 18 Rare complications of MRS include sinusitis, candida infection, facial erythema, IgA nephropathy, vitiligo, thyroid hormonal abnormalities, and lacunar strokes.…”

Section: Etiologymentioning

confidence: 99%

<p>Management Strategies of Melkersson-Rosenthal Syndrome: A Review</p>

Dhawan¹,

Saini²,

Singhi³

2020

IJGM

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Melkerrson-Rosenthal syndrome is a rare disorder of unknown aetiology and characterized by the triad of oro-facial edema, facial nerve palsy, and furrowing of the tongue. Two or more of the above are essential for making a clinical diagnosis. The mainstay of treatment is corticosteroids. Intralesional triamcinolone acetonide may be used for the treatment of oro-facial edema. Another treatment option for oro-facial edema includes intralesional betamethasone, along with oral doxycycline. The review discusses the management strategies in Melkersson-Rosenthal syndrome.

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Exome sequencing identifies FATP1 mutation in Melkersson–Rosenthal syndrome

Cited by 20 publications

References 10 publications

Human epidermal stem cell differentiation is modulated by specific lipid subspecies

Human epidermal stem cell differentiation is modulated by specific lipid subspecies

Oral lymphangiectasia and gastrointestinal Crohn disease

<p>Management Strategies of Melkersson-Rosenthal Syndrome: A Review</p>

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