Clinical and Histopathological Characteristics of Buschke–Ollendorff Syndrome: A Case Series

Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, et al. Buschke–Ollendorff syndrome: a novel case series and systematic review. Br J Dermatol 2016; 174: 723–729.

https://doi.org/10.1111/bjd.14366 DOI: https://doi.org/10.1111/bjd.14366

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PCM, Costa T, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff syndrome and melorheostosis. Nature Genetics 2004; 36: 1213–1218.

https://doi.org/10.1038/ng1453 DOI: https://doi.org/10.1038/ng1453

Darr-Foit S, Schliemann S, Schulz S, Elsner P. Buschke–Ollendorff syndrome due to a novel LEMD3 mutation: an unusual case of alopecia. J Dtsch Dermatol Ges 2018; 16: 348–349.

https://doi.org/10.1111/ddg.13446 DOI: https://doi.org/10.1111/ddg.13446

Aroni K, Kyriazi E, Aivaliotis M, Davaris P. Familial localized connective tissue nevus of the scalp with alopecia (report of a very unusual case). J Eur Acad Dermatol Venereol 2004; 18: 340–341.

https://doi.org/10.1111/j.1468-3083.2004.00865.x DOI: https://doi.org/10.1111/j.1468-3083.2004.00865.x

Kobus RJ, Lubbers LM, Coleman CR. Connective tissue nevus and osteopoikilosis in the hand: the Buschke–Ollendorff syndrome. J Hand Surgery 1989; 14: 535–538.

https://doi.org/10.1016/S0363-5023(89)80019-X DOI: https://doi.org/10.1016/S0363-5023(89)80019-X

Brodbeck M, Yousif Q, Diener PA, Zweier M, Gruenert J. The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. BMC Res Notes 2016; 9: 294.

https://doi.org/10.1186/s13104-016-2095-2 DOI: https://doi.org/10.1186/s13104-016-2095-2

Waller B, Al-Jasser M, Lam JM. An 8-year-old boy with multiple yellow papules and bony lesions. Pediatr Dermatol 2013; 30: 261–262.

https://doi.org/10.1111/j.1525-1470.2012.01762.x DOI: https://doi.org/10.1111/j.1525-1470.2012.01762.x

Trattner A, David M, Rothem A, Ben-David E, Sandbank M. Buschke–Ollendorff syndrome of the scalp: histologic and ultrastructural findings. J Am Acad Dermatol 1991; 24: 822–824.

https://doi.org/10.1016/0190-9622(91)70123-J DOI: https://doi.org/10.1016/0190-9622(91)70123-J

Fernández-Faith E, Kress D, Piliang M, Sachdeva M, Vidimos A. Buschke–Ollendorff syndrome and bilateral cutaneous syndactyly. Pediatr Dermatol 2012; 29: 661–662.

https://doi.org/10.1111/j.1525-1470.2011.01417.x DOI: https://doi.org/10.1111/j.1525-1470.2011.01417.x

Condorelli A, Musso N, Scuderi L, Condorelli DF, Barresi V, De Pasquale R. Juvenile elastoma without germline mutations in LEMD3 gene: a case of Buschke–Ollendorff syndrome? Pediatr Dermatol 2017; 34: e345–e346.

https://doi.org/10.1111/pde.13287 DOI: https://doi.org/10.1111/pde.13287

Kratzsch J, Mitter D, Ziemer M, Kohlhase J, Voth H. Identification of a novel point mutation in the LEMD3 gene in an infant with Buschke–Ollendorff syndrome. JAMA Dermatol 2016; 152: 844–845.

https://doi.org/10.1001/jamadermatol.2016.0350 DOI: https://doi.org/10.1001/jamadermatol.2016.0350

Yadegari M, Whyte MP, Mumm S, Phelps RG, Shanske A, Totty WG, et al. Buschke–Ollendorff syndrome: absence of LEMD3 mutation in an affected family. Arch Dermatol 2010; 146: 63–68.

https://doi.org/10.1001/archdermatol.2009.320 DOI: https://doi.org/10.1001/archdermatol.2009.320

Korekawa A, Nakano H, Toyomaki Y, Takiyoshi N, Rokunohe D, Akasaka E, et al. Buschke–Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation. Br J Dermatol 2012; 166: 900–903.

https://doi.org/10.1111/j.1365-2133.2011.10691.x DOI: https://doi.org/10.1111/j.1365-2133.2011.10691.x

Xu Z, Yang C, Xue R. Buschke–Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition. J Cutan Pathol 2021; 48: 77–80.

https://doi.org/10.1111/cup.13771 DOI: https://doi.org/10.1111/cup.13771