Research & Literature

Olmsted syndrome: clinical, molecular and therapeutic aspects.

Duchatelet S, Hovnanian A

Orphanet journal of rare diseases 2015; (10()):33 doi:10.1186/s13023-015-0246-5.

Caregiver Perceptions of Hospital to Home Transitions According to Medical Complexity: A Qualitative Study.

Desai AD, Durkin LK, Jacob-Files EA, Mangione-Smith R

Academic pediatrics 2016; (16(2)):136-44.

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.

Ni C, Yan M, Zhang J, et al.

Scientific reports 2016; (6()):21815 doi:10.1038/srep21815.

Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene.

Zhi YP, Liu J, Han JW, et al.

Clinical and experimental dermatology 2016; (41(5)):510-3 doi:10.1111/ced.12833.

Olmsted Syndrome: Rare Occurrence in Four Siblings.

Bukharia A, Komal S, Sudhanan VM, Chaudhary SS

Indian journal of dermatology 2016; (61(3)):347 doi:10.4103/0019-5154.182467.

Project IMPACT Pilot Report: Feasibility of Implementing a Hospital-to-Home Transition Bundle.

Mallory LA, Osorio SN, Prato BS, et al.

Pediatrics 2017; (139(3)) doi:10.1542/peds.2015-4626.

Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.

Nemer G, Safi R, Kreidieh F, et al.

Archives of dermatological research 2017; (309(8)):637-643 doi:10.1007/s00403-017-1762-z.

Provider Perspectives of High-Quality Pediatric Hospital-to-Home Transitions for Children and Youth With Chronic Disease.

Foster CC, Jacob-Files E, Arthur KC, et al.

Hospital pediatrics 2017; (7(11)):649-659 doi:10.1542/hpeds.2017-0031.

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.

Choi JY, Kim SE, Lee SE, Kim SC

Yonsei medical journal 2018; (59(2)):341-344 doi:10.3349/ymj.2018.59.2.341.

Olmsted Syndrome with Lateral Supraciliary Madarosis and Clubbing: A Rare Case Report.

Zeeshan M, Jha AK, Chaudhary RKP

Indian dermatology online journal 2018; (9(2)):114-116 doi:10.4103/idoj.IDOJ_95_17.

Medication Reconciliation Across Care Transitions in the Pediatric Medical Home.

Condren M, Bowling S, Hall B, et al.

Joint Commission journal on quality and patient safety 2019; (45(8)):536-542 doi:10.1016/j.jcjq.2019.01.003.

Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome.

Zhang A, Duchatelet S, Lakdawala N, et al.

JAMA dermatology 2020; (156(2)):196-200 doi:10.1001/jamadermatol.2019.4141.

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.

Greco C, Leclerc-Mercier S, Chaumon S, et al.

JAMA dermatology 2020; (156(2)):191-195 doi:10.1001/jamadermatol.2019.4126.

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.

Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA

The British journal of dermatology 2021; (184(3)):393-400 doi:10.1111/bjd.19144.

Transitioning Children With Medical Complexity From Hospital to Home Health Care: Implications for Hospital-Based Clinicians.

Nageswaran S, Sebesta MR, Golden SL

Hospital pediatrics 2020; (10(8)):657-662 doi:10.1542/hpeds.2020-0068.

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.

Zhong W, Hu L, Cao X, et al.

The Journal of investigative dermatology 2021; (141(3)):545-554 doi:10.1016/j.jid.2020.06.035.

What's the resolutive surgery for pseudo-ainhum in Vohwinkel syndrome? A case report and review of the literature.

Rovere G, Stramazzo L, Cioffi A, et al.

Orthopedic reviews 2020; (12(4)):8868 doi:10.4081/or.2020.8868.

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.

Caengprasath N, Theerapanon T, Porntaveetus T, Shotelersuk V

Journal of translational medicine 2021; (19(1)):114 doi:10.1186/s12967-021-02779-5.

[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].

Lu J, Hu R, Liu L, Ding H

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(7)):674-677 doi:10.3760/cma.j.cn511374-20200811-00597.

Olmsted Syndrome: Case Report of Nursing Management of Premature Twins.

Anderson S, Paradise J, Esser M

Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2022; (22(4)):333-340 doi:10.1097/ANC.0000000000000942.

Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica.

Demir FT, Çaytemel C, Caf N, et al.

Indian journal of dermatology 2021; (66(5)):574 doi:10.4103/ijd.IJD_595_20.

Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca2+-mobilization and induce lysosomal defects.

Jain A, Sahu RP, Goswami C

Biochemical and biophysical research communications 2022; (628()):32-39 doi:10.1016/j.bbrc.2022.08.026.

An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome.

Chen G, Wang M, Wang P, Liang B

The Journal of dermatology 2023; (50(5)):715-719 doi:10.1111/1346-8138.16684.

Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome.

Butala S, Phan S, Siegel DH, et al.

Pediatric dermatology 2023; (40(4)):735-737 doi:10.1111/pde.15264.

TRPV3-Activated PARP1/AIFM1/MIF Axis through Oxidative Stress Contributes to Atopic Dermatitis.

Song Z, Gao M, Li T, et al.

The Journal of investigative dermatology 2024; (144(12)):2695-2705.e8 doi:10.1016/j.jid.2024.04.020.

Cutting Through Complexity: Surgical Management of Severe Palmoplantar Keratoderma.

Khan MT, Amjad I, Khan MR

Cureus 2024; (16(7)):e65768 doi:10.7759/cureus.65768.

Olmsted Syndrome in a 12-year-old Filipino Male: A Case Report and Future Directions.

Pandapatan AT, Tan CJ, Tan JAS

Acta medica Philippina 2024; (58(17)):83-87 doi:10.47895/amp.v58i17.7957.

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma.

Hao Y, Wu R, Chen X, et al.

Frontiers in oncology 2024; (14()):1420555 doi:10.3389/fonc.2024.1420555.

The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.

Mo R, Ma X, Hu L, et al.

Journal of dermatological science 2024; (116(3)):111-119 doi:10.1016/j.jdermsci.2024.10.005.

Pathogenesis and management of TRPV3-related Olmsted syndrome.

Lu A, Li K, Huang C, et al.

Frontiers in genetics 2024; (15()):1459109 doi:10.3389/fgene.2024.1459109.

TRPV3 Mutation-Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature.

Arias-Berrios G, Ortiz-López LI, Sánchez-Flores X

Pediatric dermatology 2025; (42(4)):835-840 doi:10.1111/pde.15892.

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report.

Zhang J, Guo M, Yuan D, et al.

Frontiers in medicine 2025; (12()):1512673 doi:10.3389/fmed.2025.1512673.

Exploring alternative approaches: A case report on palmoplantar keratoderma treated with unani medicine.

Ilyas DJ, Jamal DMA

Explore (New York, N.Y.) 2025; (21(3)):103138 doi:10.1016/j.explore.2025.103138.

Collagen Matrix and Staged Skin Grafting for Plantar Reconstruction: Lessons Learned in Treatment of Palmoplantar Keratoderma.

Choi J, Applebaum MA, Feldmann ME

Eplasty 2024; (24()):e67.

Primary Care, Specialists, and Hospitals: Bridging the Gaps in Communication and Coordination.

Leykum LK, Bravata DM

The Medical clinics of North America 2026; (110(4)):665-679 doi:10.1016/j.mcna.2025.11.013.

The clinical and genetic landscape of junctional skin disorder in children: A scoping review.

Del Vecchio C, Nardacchione EM, Zupin L, et al.

Clinics in dermatology 2026; doi:10.1016/j.clindermatol.2026.09.014.

Inherited epidermal differentiation disorders (EDD) in pediatric patients from a single Italian referral Center.

Pascolini G

European journal of pediatrics 2026; (185(11)).