Research & Literature

Coexistence of osteopoikilosis with seronegative spondyloarthritis and spinal stenosis.

Demir SE, Özaras N, Poyraz E, et al.

Journal of physical therapy science 2015; (27(5)):1625-7 doi:10.1589/jpts.27.1625.

KLF4 is a key determinant in the development and progression of cerebral cavernous malformations.

Cuttano R, Rudini N, Bravi L, et al.

EMBO molecular medicine 2016; (8(1)):6-24 doi:10.15252/emmm.201505433.

Osteopoikilosis: A rare cause of bone pain.

Mahbouba J, Mondher G, Amira M, et al.

Caspian journal of internal medicine 2015; (6(3)):177-9.

Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.

Zhang Q, Mo ZH, Dong CS, et al.

Journal of endocrinological investigation 2016; (39(6)):679-85 doi:10.1007/s40618-015-0419-z.

The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.

Brodbeck M, Yousif Q, Diener PA, et al.

BMC research notes 2016; (9()):294 doi:10.1186/s13104-016-2095-2.

Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review.

Tsai SY, Wang SY, Shiau YC, Wu YW

Medicine 2016; (95(23)):e3868 doi:10.1097/MD.0000000000003868.

A Spotted Bone.

Perin S, Rabach I, Pascolo P, et al.

The Journal of pediatrics 2016; (176()):220-220.e1.

Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.

Korman B, Wei J, Laumann A, et al.

Case reports in dermatological medicine 2016; (2016()):2483041 doi:10.1155/2016/2483041.

[Imaging diagnosis of osteopoiknosis: a report of 6 cases in four generations of one family and 3 sporadic cases].

Yu WJ, Fang TS, Cheng LG

Zhongguo gu shang = China journal of orthopaedics and traumatology 2016; (29(6)):566-9.

MAN1 Restricts BMP Signaling During Synaptic Growth in Drosophila.

Laugks U, Hieke M, Wagner N

Cellular and molecular neurobiology 2017; (37(6)):1077-1093 doi:10.1007/s10571-016-0442-4.

Elastoma: clinical and histopathological aspects of a rare disease.

Maciel MG, Enokihara MM, Seize MB, et al.

Anais brasileiros de dermatologia 2016; (91(5 suppl 1)):39-41 doi:10.1590/abd1806-4841.20164541.

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Whyte MP, Griffith M, Trani L, et al.

Bone 2017; (101()):145-155 doi:10.1016/j.bone.2017.04.010.

Melorheostosis: a Rare Sclerosing Bone Dysplasia.

Kotwal A, Clarke BL

Current osteoporosis reports 2017; (15(4)):335-342 doi:10.1007/s11914-017-0375-y.

Structural basis for receptor-regulated SMAD recognition by MAN1.

Miyazono KI, Ohno Y, Wada H, et al.

Nucleic acids research 2018; (46(22)):12139-12153 doi:10.1093/nar/gky925.

Two cases of mimics of bone metastasis in breast cancer.

Tin AW, Hardman J, Naisby G

BJR case reports 2018; (4(2)):20170091 doi:10.1259/bjrcr.20170091.

Osteopoikilosis Demonstrating Multiple Joint Involvement in an Adult Male: An Incidental Radiographic Finding.

Botwin A, Wasyliw C

Cureus 2018; (10(9)):e3253 doi:10.7759/cureus.3253.

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.

Wordsworth P, Chan M

Calcified tissue international 2019; (104(5)):530-543 doi:10.1007/s00223-019-00543-y.

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.

Gnoli M, Staals EL, Campanacci L, et al.

Calcified tissue international 2019; (105(2)):215-221 doi:10.1007/s00223-019-00565-6.

Osteopoikilosis: case series from Portuguese Rheumatology Centers.

Madeira N, Ganhão S, Ferreira RM, et al.

Acta reumatologica portuguesa 2019; (44(1)):78-83.

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.

Elmaoğulları S, Yıldız AE, Demir S, et al.

The Turkish journal of pediatrics 2019; (61(4)):594-598.

Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease.

Diotallevi F, Simonetti O, Radi G, et al.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica 2020; (29(1)):31-33.

Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.

Xu Z, Yang C, Xue R

Journal of cutaneous pathology 2021; (48(1)):77-80 doi:10.1111/cup.13771.

FDG-PET Versus PSMA-PET: A Patient With Prostate Cancer.

Kichloo A, Amir R, Aljadah M, et al.

Journal of investigative medicine high impact case reports 2020; (8()):2324709620941313 doi:10.1177/2324709620941313.

Solitary upper thoracic vertebral metastasis as an initial presentation of pancreatic cancer: A case report.

Alpantaki K, Koutserimpas C, Milaki K, et al.

Molecular and clinical oncology 2021; (14(2)):37 doi:10.3892/mco.2020.2199.

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature.

Gaudio A, Xourafa A, Rapisarda R, et al.

Clinical case reports 2021; (9(2)):922-926 doi:10.1002/ccr3.3611.

Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report.

Chang YY, Lin WH

BMC musculoskeletal disorders 2021; (22(1)):376 doi:10.1186/s12891-021-04258-w.

Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs.

Panchal SR, Gawhale S, Shah NZ, Mohanty T

Journal of orthopaedic case reports 2021; (11(3)):98-101 doi:10.13107/jocr.2021.v11.i03.2106.

Case report of Osteopoikilosis in patient with psoriatic arthritis.

Cherif I, Maatallah K, Ferjani H, et al.

Clinical case reports 2022; (10(1)):e05263 doi:10.1002/ccr3.5263.

Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.

Hung WK, Shen MH, Chen KY, et al.

Journal of musculoskeletal & neuronal interactions 2022; (22(2)):292-295.

Osteopoikilosis-the incidental finding of a rare bone dysplasia: A case report.

Rosa-Juana TP, Ana AL, Julia MD, Sara CP

Clinical case reports 2024; (12(7)):e9191 doi:10.1002/ccr3.9191.

Osteopoikilosis in a patient with familial adenopolyposis : A case report.

Al-Khudairi R, Maris A, Blehadj A, Vasiliadis AV

Radiology case reports 2024; (19(10)):4485-4488 doi:10.1016/j.radcr.2024.07.068.

Osteopoikilosis in a young ankylosing spondylitis patient.

Omelchenko V, Letyagina E, Korolev M

Journal of rheumatic diseases 2024; (31(4)):253-256 doi:10.4078/jrd.2024.0040.

Incidental Osteopoikilosis in an Ankle Fracture Patient: Case Report and Literature Review.

Ogalde-Bravo J, Cárcamo-Aguilar F, Durán-Ciarrochi R, et al.

Journal of orthopaedic case reports 2026; (16(1)):160-163 doi:10.13107/jocr.2026.v16.i01.6636.

LEM-Domain-Containing Inner Nuclear Membrane Proteins: Emerging Regulators of Intranuclear Signaling.

Lee B, Lee H, Shim J

International journal of molecular sciences 2026; (27(2)) doi:10.3390/ijms27020942.