Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome)

Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome)

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Buschke-Ollendorff syndrome is a rare hereditary disorder of connective tissue. It is inherited as a pleiotropic autosomal dominant trait with incomplete penetrance. This condition was described for the first time in 1902 and was termed “scleroderma adultorum” by Abraham Buschke. Then, Heinrich Ernst Albers-Schönberg described this syndrome in 1915. Finally, Buschke and Helene Ollendorff Curth described it in 1928 in a 41-year-old woman. Buschke-Ollendorff syndrome is considered to be a hamartoma, an association of osteopoikilosis and connective tissue nevi. [1, 2, 3, 4, 5, 6, 7]

See image below depicting Buschke-Ollendorff syndrome.

In the presence of 10% calf serum, cultured fibroblasts of patients with Buschke-Ollendorff syndrome produce 2-8 times more tropoelastin than fibroblasts of healthy individuals. Elastin production is higher in involved and uninvolved skin. [8, 9, 10] Elevated elastin mRNA levels suggest that Buschke-Ollendorff syndrome may result from abnormal regulation of extracellular matrix, leading to increased levels of elastin mRNA and increased accumulation of elastin in the dermis. Noteworthy is that heterozygous loss-of-function mutation in the LEMD3 (LEM domain containing 3) gene (locus 12q14.3) for an inner nuclear membrane protein has been identified in patients with osteopoikilosis with or without Buschke-Ollendorff syndrome. [5, 11, 12, 13, 14]

Buschke-Ollendorff syndrome is rare (1 case per 20,000 population). [5]

No racial predilection is reported for Buschke-Ollendorff syndrome. [5]

The incidence is equal for males and females. [5]

Skin lesions are visible in neonates just after birth. Other factors of the syndrome are revealed with time. [4]

When visceral or metabolic changes (diabetes) are present, the prognosis can be serious. The cause of mortality may be malignant transformation of bone densities into osteosarcoma, chondrosarcoma, and giant cell tumor. The otosclerosis with hearing impairment, stenosis of the aortae, and diabetes found in this syndrome make the patient’s condition serious. [4, 15, 16] However, in general, Buschke-Ollendorff syndrome follows a benign course. The associated lesions are generally asymptomatic, begin in childhood, and persist throughout life, often found as incidental findings [17] .

The patient and/or the patient’s family should be educated concerning potential complications.

Benli IT, Akalin S, Boysan E, Mumcu EF, Kis M, Türkoglu D. Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br. 1992 Jul. 74(4):504-6. [Medline].

Crivellato E. Disseminated nevus anelasticus. Int J Dermatol. 1986 Apr. 25(3):171-3. [Medline].

Dahan S, Bonafe JL, Laroche M, et al. [Iconography of Buschke Ollendorff syndrome: x ray computed tomography and nuclear magnetic resonance of osteopoikilosis]. Ann Dermatol Venereol. 1989. 116(3):225-30. [Medline].

Lin F, Morrison JM, Wu W, Worman HJ. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. Hum Mol Genet. 2005 Feb 1. 14(3):437-45. [Medline].

de la Salmonière P, Janier M, Chemlal K, Lazareth I, Carlotti A, Charasson I, et al. [Buschke-Ollendorff syndrome]. Ann Dermatol Venereol. 1994. 121(10):718-20. [Medline].

Umaretiya PJ, Miest RY, Tollefson MM. A 5-year-old with connective tissue nevi: Buschke-Ollendorff syndrome. J Pediatr. 2014 Jul. 165(1):206. [Medline].

Boyaci A, Boyaci N, Tutoglu A. Familial osteopoikilosis. J Back Musculoskelet Rehabil. 2013. 26(3):247-50. [Medline].

Ehrig T, Cockerell CJ. Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease. J Am Acad Dermatol. 2003 Dec. 49(6):1163-6. [Medline].

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004 Nov. 36(11):1213-8. [Medline].

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 May. 24(5 Pt 2):822-4. [Medline].

Ben-Asher E, Zelzer E, Lancet D. LEMD3: the gene responsible for bone density disorders (osteopoikilosis). Isr Med Assoc J. 2005 Apr. 7(4):273-4. [Medline].

Grimer RJ, Davies AM, Starkie CM, Sneath RS. [Chondrosarcoma in a patient with osteopoikilosis. Apropos of a case]. Rev Chir Orthop Reparatrice Appar Mot. 1989. 75(3):188-90. [Medline].

Lagier R, Mbakop A, Bigler A. Osteopoikilosis: a radiological and pathological study. Skeletal Radiol. 1984. 11(3):161-8. [Medline].

Saussine A, Marrou K, Delanoé P, et al. Connective tissue nevi: An entity revisited. J Am Acad Dermatol. 2011 Oct 18. [Medline].

Ayling RM, Evans PE. Giant cell tumor in a patient with osteopoikilosis. Acta Orthop Scand. 1988 Feb. 59(1):74-6. [Medline].

Giro MG, Duvic M, Smith LT, Kennedy R, Rapini R, Arnett FC, et al. Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. J Invest Dermatol. 1992 Aug. 99(2):129-37. [Medline].

Blum AE, Hatter A, Honda K, Lu K. An unusual presentation of Buschke-Ollendorff syndrome. J Am Acad Dermatol. 2011 Jul. 65(1):e25-6. [Medline].

Morrison JG, Jones EW, MacDonald DM. Juvenile elastoma and osteopoikilosis (the Buschke–Ollendorff syndrome). Br J Dermatol. 1977 Oct. 97(4):417-22. [Medline].

Schorr WF, Optiz JM, Reyes CN. The connective tissue nevus-osteopoikilosis syndrome. Arch Dermatol. 1972 Aug. 106(2):208-14. [Medline].

Al Attia HM, Sherif AM. Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature. Clin Rheumatol. 1998. 17(2):172-5. [Medline].

Atherton DJ, Wells RS. Juvenile elastoma and osteopoikilosis (the Buschke-Ollendorf syndrome). Clin Exp Dermatol. 1982 Jan. 7(1):109-13. [Medline].

Cantatore FP, Carrozzo M, Loperfido MC. Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. Clin Rheumatol. 1991 Jun. 10(2):191-5. [Medline].

Miklaszewska M, Szybejko-Machaj G, Szepietowski J. [Buschke-Ollendorf syndrome – case report with a literature review.]. Dermatol Klin Zabieg. 1999. 2:85-9.

Schnur RE, Grace K, Herzberg A. Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis. Pediatr Dermatol. 1994 Mar. 11(1):31-4. [Medline].

Woodrow SL, Pope FM, Handfield-Jones SE. The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi. Br J Dermatol. 2001 Apr. 144(4):890-3. [Medline].

Surrenti T, Callea F, De Horatio LT, Diociaiuti A, El Hachem M. Buschke-Ollendorff syndrome: sparing unnecessary investigations. Cutis. 2014 Aug. 94(2):97-100. [Medline].

Kennedy JG, Donahue JR, Aydin H, Hoang BH, Huvos A, Morris C. Metastatic breast carcinoma to bone disguised by osteopoikilosis. Skeletal Radiol. 2003 Apr. 32(4):240-3. [Medline].

Smith AD, Waisman M. Connective tissue nevi; familial occurrence and association with osteopoikilosis. Arch Dermatol. 1960 Feb. 81:249-52. [Medline].

Holbrook KA, Byers PH. Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. J Invest Dermatol. 1982 Jul. 79 Suppl 1:7s-16s. [Medline].

Lukasz Matusiak, MD, PhD Assistant, Department and Clinic of Dermatology, Venereology and Allergology, Medical University of Wroclaw

Disclosure: Nothing to disclose.

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for MOHS Surgery, Association of Military Dermatologists, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Grazyna Szybejko-Machaj, MD, PhD Assistant Professor, Department of Dermatology, Wroclaw Medical University

Disclosure: Nothing to disclose.

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

Mieczyslawa Miklaszewska, MD, PhD Professor, Department of Dermatology, Medical University in Wroclaw, Poland

Disclosure: Nothing to disclose.

Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome)

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