- Email: [email protected]
Platelike osteoma cutis
Letters 613
J AM ACAD DERMATOL VOLUME 64, NUMBER 3
Fig 2. Clinical manifestations of nevoid basal cell carcinoma syndrome. A, Palmar pits (the largest indicated by the black arrow), (B) left palm pit, and (C) the highly arched ‘‘gothic’’ palate.
Department of Dermatology and Venereology,a Otto-von-Guericke University, Magdeburg; Institute of Human Genetics,b University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg; Institute of Human Genetics,c University of Leipzig; and the Department of Oral and Maxillofacial Surgery,d Magdeburg, Ottovon-Guericke University, Magdeburg, Germany
with nevoid basal cell carcinoma syndrome and familial breast cancer. J Invest Dermatol 2001;116:472-4. 4. Musani V, Gorry P, Basta-Juzbasic A, Stipic T, Miklic P, Levanat S. Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT. Int J Mol Med 2006;17:755-9. 5. Vidal VP, Ortonne N, Schedl A. SOX9 expression is a general marker of basal cell carcinoma and adnexal-related neoplasms. J Cutan Pathol 2008;35:373-9. doi:10.1016/j.jaad.2009.07.046
Funding sources: None. Conflicts of interest: None declared. Reprint requests: Sven R. Quist, MD, MSc, Department of Dermatology and Venereology, Otto-vonGuericke University, Leipziger Str 44, D-39120 Magdeburg, Germany
Platelike osteoma cutis To the Editor: Platelike osteoma cutis is a rare and usually congenital cause of cutaneous ossification. An otherwise well-appearing 25-year-old white man
E-mail: [email protected] REFERENCES 1. Gollnick H, Barona CG, Frank RG, Ruzicka T, Megahed M, Tebbs V, et al. Recurrence rate of superficial basal cell carcinoma following successful treatment with imiquimod 5% cream: interim 2-year results from an ongoing 5-year follow-up study in Europe. Eur J Dermatol 2005;15:374-81. 2. Moraes RC, Zhang X, Harrington N, Fung JY, Wu MF, Hilsenbeck SG, et al. Constitutive activation of smoothened (SMO) in mammary glands of transgenic mice leads to increased proliferation, altered differentiation and ductal dysplasia. Development 2007;134:1231-42. 3. Reifenberger J, Arnold N, Kiechle M, Reifenberger G, Hauschild A. Coincident PTCH and BRCA1 germline mutations in a patient
Fig 1. Scalp plaque with a deeply furrowed surface and overlying alopecia.
614 Letters
J AM ACAD DERMATOL
MARCH 2011
Fig 2. A, Computed tomographic image of the head shows a continuous plate of calcification in the subcutaneous tissue. B, Scalp histopathology shows mature lamellar bone with scattered marrow spaces in the dermis. Note the absence of appendages. (Hematoxylineeosin stain; original magnification: 340.)
presented to our department with an asymptomatic scalp lesion that had been present since birth. There was no relevant family history and no history of trauma. The physical examination revealed an extensive firm, dermal plaque extending in a band-like distribution on the parietooccipital scalp with a deeply furrowed, gyrate surface and overlying hyperkeratosis and alopecia (Fig 1). He had no features of acromegaly or myxedema, and his phalanges and long bones were of normal thickness. A computed tomographic (CT) scan of the head revealed an extensive, partly calcified irregular mass restricted to the skin and subcutaneous soft tissues bilaterally (Fig 2, A). An incisional scalp biopsy specimen stained with hematoxylineeosin (Fig 2, B) showed mature lamellar bone with scattered marrow spaces in the dermis. Serum thyroxine, parathyroid hormone, calcium, and phosphate levels were all within the normal range. GNAS1 mutation analysis was negative. Cutaneous ossification is divided into primary and secondary forms. In primary or idiopathic osteoma cutis, circulating levels of calcium and phosphate are normal and there is no evidence of Albright hereditary osteodystrophy (AHO), progressive osseous heteroplasia (POH), or fibrodysplasia ossificans progressiva.1 There are four clinical types: isolated, widespread, multiple miliary facial, and platelike osteomas.2
Platelike osteoma cutis is most frequently reported on the scalp but may affect the limbs or trunk and is usually less than 15 cm in size.1 Worret and Burgdorf first coined the term ‘‘congenital platelike osteoma cutis’’ with the following diagnostic criteria: (1) lesion present at birth or within the first year of life; (2) no evidence of abnormal calcium or phosphorous metabolism; (3) no history of infection, trauma, or other predisposing events; and (4) presence of at least one bony plate with or without cutaneous osteomas.3,4 Our patient’s lesion fits these diagnostic criteria. We considered a differential diagnosis of cutis verticis gyrata with secondary ossification, but the lesion had been present since birth and there was no underlying endocrine or genetic disorder. In the absence of abnormal thickness of the long bones and phalanges, pachydermoperiostosis was also unlikely. Inactivating mutations in the GNAS1 gene on chromosome 20q, which encodes the a-subunit of the stimulatory G protein of adenylyl cyclase, are associated with AHO.5 GNAS1 mutations have been found in severe congenital platelike osteoma cutis, which may be a variant of POH. Yeh et al5 reported a case of extensive platelike osteoma cutis associated with a GNAS1 mutation and Cbfa1 misexpression. A GNAS1 mutation was not identified in our patient. The pathogenesis of primary osteoma cutis remains unclear. One postulated theory is that
Letters 615
J AM ACAD DERMATOL VOLUME 64, NUMBER 3
primitive mesenchymal cells differentiate normally into osteoblasts but migrate into an aberrant location. Another, perhaps more plausible, interprets the presence of bone as a result of osteoblastic metaplasia of mesenchymal cells, such as fibroblasts.4 Platelike osteoma cutis may be treated by surgical excision. The authors would like to acknowledge Elisabeth Rosser, MD, Great Ormond Street Hospital, United Kingdom.
Namita Talsania, MBBS, MRCP, Victoria Jolliffe, MA(Cantab), MRCP, FRCS(Ed), MRCGP, Edel A. O’Toole, MB, BCh, PhD, FRCPI, DCH, and Rino Cerio, BSc, FRCP (Lond), FRCP (Edin), FRCPath Barts and The London National Health Service Trust, London, United Kingdom Funding sources: None. Conflicts of interest: None declared.
Correspondence to: Namita Talsania, MBBS, MRCP, Barts and The London NHS Trust, Department of Dermatology, Royal London Hospital, London E11 2B, United Kingdom E-mail: [email protected] REFERENCES 1. Sanmartın O, Alegre V, Martinez-Aparicio A, Botella-Estrada R, Aliaga A. Congenital platelike osteoma cutis: case report and review of the literature. Pediatr Dermatol 1993;10:182-6. 2. Tresserra L, Tresserra F, Grases PJ, Badosa J, Tresserra M. Congenital plate-like osteoma cutis of the forehead: an atypical presentation form. J Craniomaxillofac Surg 1998;26:102-6. 3. Monroe AB, Burgdorf WH, Sheward S. Plate like cutaneous osteoma. J Am Acad Dermatol 1987;16:481-4. 4. Douri T, Shawaf AZ. Plate-like cutaneous osteoma on the scalp. Dermatol Online J 2006;12:17. 5. Yeh GL, Mathur S, Wivel A, Li M, Gannon FH, Ulied A, et al. GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res 2000;15:2063-73. doi:10.1016/j.jaad.2009.07.049
J AM ACAD DERMATOL VOLUME 64, NUMBER 3
Fig 2. Clinical manifestations of nevoid basal cell carcinoma syndrome. A, Palmar pits (the largest indicated by the black arrow), (B) left palm pit, and (C) the highly arched ‘‘gothic’’ palate.
Department of Dermatology and Venereology,a Otto-von-Guericke University, Magdeburg; Institute of Human Genetics,b University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg; Institute of Human Genetics,c University of Leipzig; and the Department of Oral and Maxillofacial Surgery,d Magdeburg, Ottovon-Guericke University, Magdeburg, Germany
with nevoid basal cell carcinoma syndrome and familial breast cancer. J Invest Dermatol 2001;116:472-4. 4. Musani V, Gorry P, Basta-Juzbasic A, Stipic T, Miklic P, Levanat S. Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT. Int J Mol Med 2006;17:755-9. 5. Vidal VP, Ortonne N, Schedl A. SOX9 expression is a general marker of basal cell carcinoma and adnexal-related neoplasms. J Cutan Pathol 2008;35:373-9. doi:10.1016/j.jaad.2009.07.046
Funding sources: None. Conflicts of interest: None declared. Reprint requests: Sven R. Quist, MD, MSc, Department of Dermatology and Venereology, Otto-vonGuericke University, Leipziger Str 44, D-39120 Magdeburg, Germany
Platelike osteoma cutis To the Editor: Platelike osteoma cutis is a rare and usually congenital cause of cutaneous ossification. An otherwise well-appearing 25-year-old white man
E-mail: [email protected] REFERENCES 1. Gollnick H, Barona CG, Frank RG, Ruzicka T, Megahed M, Tebbs V, et al. Recurrence rate of superficial basal cell carcinoma following successful treatment with imiquimod 5% cream: interim 2-year results from an ongoing 5-year follow-up study in Europe. Eur J Dermatol 2005;15:374-81. 2. Moraes RC, Zhang X, Harrington N, Fung JY, Wu MF, Hilsenbeck SG, et al. Constitutive activation of smoothened (SMO) in mammary glands of transgenic mice leads to increased proliferation, altered differentiation and ductal dysplasia. Development 2007;134:1231-42. 3. Reifenberger J, Arnold N, Kiechle M, Reifenberger G, Hauschild A. Coincident PTCH and BRCA1 germline mutations in a patient
Fig 1. Scalp plaque with a deeply furrowed surface and overlying alopecia.
614 Letters
J AM ACAD DERMATOL
MARCH 2011
Fig 2. A, Computed tomographic image of the head shows a continuous plate of calcification in the subcutaneous tissue. B, Scalp histopathology shows mature lamellar bone with scattered marrow spaces in the dermis. Note the absence of appendages. (Hematoxylineeosin stain; original magnification: 340.)
presented to our department with an asymptomatic scalp lesion that had been present since birth. There was no relevant family history and no history of trauma. The physical examination revealed an extensive firm, dermal plaque extending in a band-like distribution on the parietooccipital scalp with a deeply furrowed, gyrate surface and overlying hyperkeratosis and alopecia (Fig 1). He had no features of acromegaly or myxedema, and his phalanges and long bones were of normal thickness. A computed tomographic (CT) scan of the head revealed an extensive, partly calcified irregular mass restricted to the skin and subcutaneous soft tissues bilaterally (Fig 2, A). An incisional scalp biopsy specimen stained with hematoxylineeosin (Fig 2, B) showed mature lamellar bone with scattered marrow spaces in the dermis. Serum thyroxine, parathyroid hormone, calcium, and phosphate levels were all within the normal range. GNAS1 mutation analysis was negative. Cutaneous ossification is divided into primary and secondary forms. In primary or idiopathic osteoma cutis, circulating levels of calcium and phosphate are normal and there is no evidence of Albright hereditary osteodystrophy (AHO), progressive osseous heteroplasia (POH), or fibrodysplasia ossificans progressiva.1 There are four clinical types: isolated, widespread, multiple miliary facial, and platelike osteomas.2
Platelike osteoma cutis is most frequently reported on the scalp but may affect the limbs or trunk and is usually less than 15 cm in size.1 Worret and Burgdorf first coined the term ‘‘congenital platelike osteoma cutis’’ with the following diagnostic criteria: (1) lesion present at birth or within the first year of life; (2) no evidence of abnormal calcium or phosphorous metabolism; (3) no history of infection, trauma, or other predisposing events; and (4) presence of at least one bony plate with or without cutaneous osteomas.3,4 Our patient’s lesion fits these diagnostic criteria. We considered a differential diagnosis of cutis verticis gyrata with secondary ossification, but the lesion had been present since birth and there was no underlying endocrine or genetic disorder. In the absence of abnormal thickness of the long bones and phalanges, pachydermoperiostosis was also unlikely. Inactivating mutations in the GNAS1 gene on chromosome 20q, which encodes the a-subunit of the stimulatory G protein of adenylyl cyclase, are associated with AHO.5 GNAS1 mutations have been found in severe congenital platelike osteoma cutis, which may be a variant of POH. Yeh et al5 reported a case of extensive platelike osteoma cutis associated with a GNAS1 mutation and Cbfa1 misexpression. A GNAS1 mutation was not identified in our patient. The pathogenesis of primary osteoma cutis remains unclear. One postulated theory is that
Letters 615
J AM ACAD DERMATOL VOLUME 64, NUMBER 3
primitive mesenchymal cells differentiate normally into osteoblasts but migrate into an aberrant location. Another, perhaps more plausible, interprets the presence of bone as a result of osteoblastic metaplasia of mesenchymal cells, such as fibroblasts.4 Platelike osteoma cutis may be treated by surgical excision. The authors would like to acknowledge Elisabeth Rosser, MD, Great Ormond Street Hospital, United Kingdom.
Namita Talsania, MBBS, MRCP, Victoria Jolliffe, MA(Cantab), MRCP, FRCS(Ed), MRCGP, Edel A. O’Toole, MB, BCh, PhD, FRCPI, DCH, and Rino Cerio, BSc, FRCP (Lond), FRCP (Edin), FRCPath Barts and The London National Health Service Trust, London, United Kingdom Funding sources: None. Conflicts of interest: None declared.
Correspondence to: Namita Talsania, MBBS, MRCP, Barts and The London NHS Trust, Department of Dermatology, Royal London Hospital, London E11 2B, United Kingdom E-mail: [email protected] REFERENCES 1. Sanmartın O, Alegre V, Martinez-Aparicio A, Botella-Estrada R, Aliaga A. Congenital platelike osteoma cutis: case report and review of the literature. Pediatr Dermatol 1993;10:182-6. 2. Tresserra L, Tresserra F, Grases PJ, Badosa J, Tresserra M. Congenital plate-like osteoma cutis of the forehead: an atypical presentation form. J Craniomaxillofac Surg 1998;26:102-6. 3. Monroe AB, Burgdorf WH, Sheward S. Plate like cutaneous osteoma. J Am Acad Dermatol 1987;16:481-4. 4. Douri T, Shawaf AZ. Plate-like cutaneous osteoma on the scalp. Dermatol Online J 2006;12:17. 5. Yeh GL, Mathur S, Wivel A, Li M, Gannon FH, Ulied A, et al. GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res 2000;15:2063-73. doi:10.1016/j.jaad.2009.07.049