Research & Literature

[Ainhum and "African acral keratoderma": three cases].

Koudoukpo C, Bourrat E, Rausky J, et al.

Annales de dermatologie et de venereologie 2015; (142(3)):170-5.

Compliance with pregnancy prevention plan recommendations in 8672 French women of childbearing potential exposed to acitretin.

Raguideau F, Mezzarobba M, Zureik M, et al.

Pharmacoepidemiology and drug safety 2015; (24(5)):526-33 doi:10.1002/pds.3763.

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.

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.

Ellis A, Risk JM, Maruthappu T, Kelsell DP

Orphanet journal of rare diseases 2015; (10()):126 doi:10.1186/s13023-015-0346-2.

Mal de Meleda: A Focused Review.

Perez C, Khachemoune A

American journal of clinical dermatology 2016; (17(1)):63-70 doi:10.1007/s40257-015-0157-1.

Palmoplantar keratodermas: clinical and genetic aspects.

Has C, Technau-Hafsi K

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2016; (14(2)):123-39; quiz 140 doi:10.1111/ddg.12930.

Human Secreted Ly-6/uPAR Related Protein-1 (SLURP-1) Is a Selective Allosteric Antagonist of α7 Nicotinic Acetylcholine Receptor.

Lyukmanova EN, Shulepko MA, Kudryavtsev D, et al.

PloS one 2016; (11(2)):e0149733 doi:10.1371/journal.pone.0149733.

A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.

Pan Y, Zhao H, Chen A, Huang X

Medicine 2017; (96(36)):e7972 doi:10.1097/MD.0000000000007972.

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.

Radiono S, Pramono ZAD, Oh GGK, et al.

International journal of dermatology 2017; (56(11)):1161-1168 doi:10.1111/ijd.13776.

A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.

Shah K, Nasir A, Irfanullah , et al.

Clinical and experimental dermatology 2016; (41(6)):675-679 doi:10.1111/ced.12864.

SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.

Bergqvist C, Kadara H, Hamie L, et al.

International journal of dermatology 2018; (57(2)):162-170 doi:10.1111/ijd.13850.

A Rare Syndrome Resembling Scleroderma: Huriez Syndrome.

Çelik NS, Yaşar Ş, Aytekin S, Güneş P

Skin appendage disorders 2018; (4(2)):82-85 doi:10.1159/000479036.

Impact of Palmoplantar Dermatoses on Quality of Life.

Singhal R, Diwan NG, Nair PA

Indian dermatology online journal 2018; (9(5)):309-313 doi:10.4103/idoj.IDOJ_347_17.

Pain mechanisms in hereditary palmoplantar keratodermas.

Weinberg RL, Coulombe PA, Polydefkis M, Caterina MJ

The British journal of dermatology 2020; (182(3)):543-551 doi:10.1111/bjd.17880.

Mal de Meleda: A great imitator.

Bakija-Konsuo A, Zitinski M, Fatovic-Ferencic S

Clinics in dermatology 2019; (37(3)):175-181 doi:10.1016/j.clindermatol.2019.01.003.

Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified.

Gurel G, Cilingir O, Kutluay O, et al.

The Eurasian journal of medicine 2019; (51(2)):206-208 doi:10.5152/eurasianjmed.2018.18215.

Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis.

Dev T, Mahajan VK, Sethuraman G

Indian dermatology online journal 2019; (10(4)):365-379 doi:10.4103/idoj.IDOJ_367_18.

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Akbar A, Prince C, Payne C, et al.

BMC medical genetics 2019; (20(1)):145 doi:10.1186/s12881-019-0872-1.

[Acral melanoma in a patient with hereditary keratoderma of the palms and soles (mal de Meleda): A chance association?]

Korbi M, Hickman G, Routier E, et al.

Annales de dermatologie et de venereologie 2019; (146(11)):730-736 doi:10.1016/j.annder.2019.08.013.

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.

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.

Charfeddine C, Dallali H, Abdessalem G, et al.

Journal of human genetics 2020; (65(4)):397-410 doi:10.1038/s10038-019-0711-4.

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.

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.

Mohamad J, Samuelov L, Malki L, et al.

Clinical and experimental dermatology 2021; (46(1)):103-108 doi:10.1111/ced.14384.

The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family.

Steele L, Tawfik SS, O'Toole EA

The Journal of investigative dermatology 2020; (140(11)):2111-2113 doi:10.1016/j.jid.2020.06.031.

Severe acitretin-induced diffuse idiopathic skeletal hyperostosis: a case report.

Gour-Provençal G, Newman NM, Boudier-Revéret M, Chang MC

The Journal of international medical research 2020; (48(10)):300060520966896 doi:10.1177/0300060520966896.

Drug survival and safety profile of acitretin monotherapy in patients with psoriasis: A multicenter retrospective study.

Kara Polat A, Oguz Topal I, Aslan Kayıran M, et al.

Dermatologic therapy 2021; (34(2)):e14834 doi:10.1111/dth.14834.

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.

Japanese guidelines for the management of palmoplantar keratoderma.

Yoneda K, Kubo A, Nomura T, et al.

The Journal of dermatology 2021; (48(8)):e353-e367 doi:10.1111/1346-8138.15850.

A Case of Mal De Meleda: The Rare Presentation of Palmoplantar Keratoderma Disease.

Kalyan V, Suvvari TK, Kandula VDK, et al.

Cureus 2021; (13(9)):e18061 doi:10.7759/cureus.18061.

Treatment of a chronic skin lesion in the lower limb in Meleda disease.

Nebbioso G, Nebbioso V, Petrella F

Journal of wound care 2022; (31(3)):224-228 doi:10.12968/jowc.2022.31.3.224.

Two Sisters with Mal de Meleda: Case Series Report.

Cebeci D, Karasel S, Bayraktaroglu G

International journal of applied & basic medical research 2022; (12(2)):151-154 doi:10.4103/ijabmr.ijabmr_812_21.

Retinoid-induced skeletal hyperostosis in disorders of keratinization.

Doolan BJ, Paolino A, Greenblatt DT, Mellerio JE

Clinical and experimental dermatology 2022; (47(12)):2273-2276 doi:10.1111/ced.15382.

Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients.

Liu J, Chen Z, Hu L, et al.

The Journal of dermatology 2023; (50(3)):375-382 doi:10.1111/1346-8138.16621.

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.

Fertitta L, Charbit-Henrion F, Leclerc-Mercier S, et al.

Genes 2022; (13(12)) doi:10.3390/genes13122360.

Atypical Mal de Meleda in a Hispanic Patient.

Guevara M, Mafla M, Miño C

Case reports in dermatological medicine 2023; (2023()):6640311 doi:10.1155/2023/6640311.

Pachyonychia Congenita: Clinical Features and Future Treatments.

McCarthy RL, de Brito M, O'Toole E

The Keio journal of medicine 2025; (74(1)):52-60 doi:10.2302/kjm.2023-0012-IR.

Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report.

Govender KC, Pillay S

SAGE open medical case reports 2023; (11()):2050313X231204197 doi:10.1177/2050313X231204197.

Use of Acitretin Among Girls and Women of Childbearing Age and Occurrence of Acitretin-Exposed Pregnancies in Germany.

Reinold J, Kollhorst B, Temme HL, et al.

Clinical drug investigation 2023; (43(11)):865-872 doi:10.1007/s40261-023-01314-2.

Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma.

Weinberg RL, Kim S, Pang Z, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2024; (44(28)) doi:10.1523/JNEUROSCI.0260-23.2024.

Transgradient Variant of Mal De Meleda Presenting As Palmoplantar Keratoderma: A Case Report.

Khan A, Singh A, Madke B, et al.

Cureus 2024; (16(5)):e60717 doi:10.7759/cureus.60717.

Palmoplantar Keratoderma Treated with Individualized Homoeopathic Medicine: A Case Report.

Lamba P

Alternative therapies in health and medicine 2024; (30(8)):60-64.

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Gram SB, Brusgaard K, Lei U, et al.

JAMA dermatology 2025; (161(2)):157-166 doi:10.1001/jamadermatol.2024.4824.

Balancing efficacy and hepatotoxicity: a comprehensive review of oral medications in psoriasis management.

Elsisi AE, Abu-Risha SE, Alkabbani MA, et al.

Naunyn-Schmiedeberg's archives of pharmacology 2025; (398(12)):16355-16384 doi:10.1007/s00210-025-04334-1.

Atypical manifestation of psoriasis in the elderly: possible expression of Mal de Meleda diagnosis review and case report.

Onisor C, Sarpe AM, Niculet E

Frontiers in medicine 2025; (12()):1634843 doi:10.3389/fmed.2025.1634843.

E114G de Novo Mutation in GJB2 Gene in a Chinese Patient with Classical Vohwinkel Syndrome.

Chen B, Xu X, Zhou F

International medical case reports journal 2026; (19()):563988 doi:10.2147/IMCRJ.S563988.

Molecular insights into nagashima-type palmoplantar keratoderma: SERPINB7 mutation spectrum and mechanistic perspectives.

Xiao Z, Kang Y, Li R, Tan Y

Frontiers in molecular biosciences 2026; (13()):1796488 doi:10.3389/fmolb.2026.1796488.

Large-Scale Cohort Study on the Genetic and Phenotypic Findings of Palmoplantar Keratodermas in the Chinese Population.

Wang X, Sun W, Zhang C, et al.

Experimental dermatology 2026; (35(7)):e70311 doi:10.1111/exd.70311.