Ophthal Plast Reconstr Surg 2017 Jun 13. Epub 2017 Jun 13.

*The David Cogan Ophthalmic Pathology Laboratory, †Massachusetts Eye and Ear Infirmary, and ‡The Ophthalmic Plastic and Reconstructive Surgery Service, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, U.S.A.

Most boney and cartilaginous lesions of the orbit and periorbital compartments are benign, grow endophytically, and are composed of dense lamellar bone (eburnated or ivory osteomas). An 87-year-old woman had a well-circumscribed, firm, round, and exophytic lesion of the brow region for at least 15 years. Excisional surgery disclosed an osteocartilaginous lesion with an enveloping pseudocapsule (periosteum/perichondrium) and a narrow stalk connecting it to the frontal bone. Read More

Dermatol Online J 2017 Apr 15;23(4). Epub 2017 Apr 15.

Dermatology Department, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Brazil.

We report a healthy, 44-year-old woman presenting with an at least a 20-year history of hardened papules in the forehead region, extending to the scalp. The biopsy and histopathologic exam confirmed a diagnosis of osteoma cutis. We review the literature review and discuss the classification of the cutaneous ossification process presented, along with the results of the surgical treatment. Read More

Indian J Dermatol Venereol Leprol 2017 Jul-Aug;83(4):464-467

Department of Pathology, Acıbadem University School of Medicine, Istanbul, Turkey.

Dermatol Online J 2017 Mar 15;23(3). Epub 2017 Mar 15.

Department of Internal Medicine, University of Central Florida College of Medicine, Orlando Florida.

Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2]. Read More

AJNR Am J Neuroradiol 2017 Apr 23;38(4):789-794. Epub 2017 Feb 23.

From the Department of Radiology (D.K., P.H.), Lahey Hospital and Medical Center, Burlington, Massachusetts

Background And Purpose: Osteoma cutis of the face represents a primary or secondary formation of ossific foci in the facial skin. Its primary form has been sparsely described in the plastic surgery and dermatology literature. As radiologists, we routinely encounter incidental, very small facial calcified nodules on CT studies performed for a variety of unrelated reasons. Read More

Eur J Pediatr 2017 Feb 30;176(2):279-283. Epub 2016 Dec 30.

Department of Clinical genetics, Leiden University Medical Centre, Postzone K5-R, PO box 9600, 2300 RC, Leiden, The Netherlands.

We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Read More

Int J Surg Case Rep 2017 15;30:62-65. Epub 2016 Nov 15.

Ankara University, Faculty of Dentistry, Maxillofacial Radiology Department, Emniyet Mahallesi, İncitaş Sokak Yenimahalle, Ankara, Turkey. Electronic address:

Introduction: Pilomatricomas are benign follicular skin appendage tumors, commonly occurring in children and young adults. Most patients admit to dermatologists to seek treatment and are well known by them; however, dental professionals, especially pediatric dentists are not familiar with these tumors.

Presentation Of Case: This report presents a 16-year-old female with preauricular pilomatricoma, located beneath the overlying skin of the temporomandibular region. Read More

Eur J Endocrinol 2016 Dec 11;175(6):P1-P17. Epub 2016 Jul 11.

APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France

Objective: Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Read More

Quintessence Int 2016 ;47(8):705-9

Osteoma cutis is a condition that generally presents with true bony deposits in the skin. Although the pathogenesis of osteoma cutis is not clear, it supposes that certain preexisting conditions like acne vulgaris may contribute to generating these ossifications. These osteomas are usually asymptomatic and do not require any treatment unless they cause cosmetic issues. Read More

J Ultrasound 2016 16;19(2):145-7. Epub 2015 Oct 16.

Department of Radiology, San Gallicano Dermatologic Institute for Research and Care, Via Elio Chianesi 53, 00144 Rome, Italy.

Purpose: Multiple miliaryosteoma cutis (MMOC) is a rare nodular skin disease, characterized by tiny bone nodules in the dermis and subcutaneous tissue, presenting clinically as multiple normochromic papules and nodules, usually on the face. We described the case of MMOC of the face in a woman, ultrasonically evaluated with very high frequency probe.

Materials And Methods: A 45-year-old patient with multiple papules, 3-5 mm in diameter, grouped in the frontal region. Read More

Eur J Med Genet 2016 May 4;59(5):290-4. Epub 2016 Apr 4.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany. Electronic address:

Progressive osseous heteroplasia (POH) is a segmental disorder characterized by progressive heterotopic ossification that extends from dermal and subcutaneous tissues to deeper structures. So far, it has been taken as a rarely occurring bone disease with autosomal dominant inheritance. Here, arguments are presented in favor of the alternative concept that the disorder is merely a type 2 segmental manifestation of autosomal dominant GNAS inactivation disorders. Read More

Dermatol Clin 2016 Apr;34(2):225-8

Department of Dermatology, Icahn School of Medicine at Mount Sinai, 5 East 98 Street, 5th Floor, New York, NY 10029, USA.

Acne vulgaris (AV) is considered a straightforward diagnosis made clinically without specific diagnostic testing. However, certain disorders may simulate AV, such as multiple small epidermal cysts or deep milia, multiple osteoma cutis, multiple small adnexal neoplasms, and follicular and/or infections characterized by multiple small papules and/or pustules such as gram-positive folliculitis, gram-negative folliculitis, Malassezia folliculitis, keratosis pilaris, and flat warts. This can lead to an erroneous diagnosis and improper management. Read More

Dermatol Online J 2016 Jan 15;22(1). Epub 2016 Jan 15.

Shahid Beheshti University of Medical Science, Dental Faculty, Tehran.

Background: Osteoma cutis is a rare soft tissue ossification of cutaneous tissue and may be primary or secondary. In the majorityof cases it is clinically asymptomatic and may detected incidentally on radiographic examination. Cone beam computed tomography (CBCT) has can be of great assistance in the detection of this asymptomatic lesion. Read More

J Dtsch Dermatol Ges 2015 Nov;13(11):1185-7

Department of Pathology, Klagenfurt am Wörthersee Hospital, Klagenfurt, Austria.

Vet Ophthalmol 2016 Sep 23;19(5):439-43. Epub 2015 Sep 23.

Department of Surgery, Small Animal Specialist Hospital, North Ryde, NSW, Australia.

Osteoma cutis describes bone formation in skin and is well documented in the medical literature, but veterinary reports are few. We report a single case of a juvenile samoyed that was referred for assessment of a superior eyelid anomaly. Exploratory surgery and histopathology revealed the presence of mature, lamellar bone within the superior eyelid. Read More

Ann Dermatol 2015 Aug 29;27(4):452-3. Epub 2015 Jul 29.

Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea. ; Institute of Lifestyle Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.

Indian Pediatr 2015 Apr;52(4):357

Departments of Dermatology, #Kalyani-Escorts Hospital, Gurgaon; and *UCMS and GTB Hospital, Delhi; India.

J Pediatr Endocrinol Metab 2015 Jul;28(7-8):911-8

Introduction: Progressive osseous heteroplasia (POH) is a condition of invasive heterotopic ossification. Reports of patients with mild POH with Albright hereditary osteodystrophy (AHO), specifically pseudohypoparathyroidism type Ia (PHP Ia) with hormonal resistance, suggest the possibility of a common molecular basis. GNAS has been implicated to account for overlapping features of POH and PHP Ia. Read More

Med Clin (Barc) 2015 Nov 10;145(10):e25-7. Epub 2015 Apr 10.

Laboratorio de (Epi)Genética Molecular, Instituto de Investigación Sanitaria BioAraba, Hospital Universitario Araba-Txagorritxu, BioAraba, Vitoria-Gasteiz, Álava, España. Electronic address:

J Dtsch Dermatol Ges 2015 Apr;13(4):339-40

Dermatology Practice, Heidelberg, Germany.

J Eur Acad Dermatol Venereol 2016 May 6;30(5):905-7. Epub 2015 Mar 6.

Pediatric Department, Catholic University of the Sacred Heart, Rome, Italy.

Appl Clin Genet 2015 30;8:37-48. Epub 2015 Jan 30.

Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA ; Department of Orthopaedic Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA ; The Center for Research in FOP and Related Disorders, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share common features of superficial ossification and association with inactivating mutations of GNAS. Read More

Dermatol Online J 2014 Dec 16;20(12). Epub 2014 Dec 16.

New York University School of Medicine.

Osteoma cutis is the aberrant development of bone within the skin. The bone formation may be de novo (primary) or result from an injury to the skin (secondary). Here we present a healthy 53-year-old man with no known abnormalities in calcium or phosphate metabolism with plate-like osteoma cutis of the scalp. Read More

Hum Mutat 2015 Jan 28;36(1):11-9. Epub 2014 Nov 28.

CICS-UBI, Health Sciences Research Centre, Faculty of Health Sciences, University of Beira Interior, Covilhã 6200-506, Portugal.

Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, which is encoded by a complex imprinted locus termed GNAS. Paternally inherited mutations can lead either to pseudopseudohypoparathyroidism (PPHP) characterized by AHO alone, or to progressive osseous heteroplasia (POH), characterized by severe heterotopic ossification. Read More

Case Rep Dermatol Med 2014 10;2014:347829. Epub 2014 Aug 10.

Sector of Dermatology, Sector of Dermatology and Post-Graduation Course, School of Medicine and University Hospital, Federal University of Rio de Janeiro, Rua Dona Mariana 143/C-32, 22280-020 Botafogo, RJ, Brazil.

The authors present a rare case of osteoma cutis miliaris and briefly update the current knowledge about its clinic, pathogenesis, and therapeutic options. Read More

Korean J Pediatr 2014 May 31;57(5):240-4. Epub 2014 May 31.

Department of Pediatrics, Hallym University College of Medicine, Chunchon, Korea.

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. Read More

Int J Dermatol 2015 25;54(5):571-2. Epub 2014 Jun 25.

University of California, San Diego, School of Medicine, San Diego, CA, USA.

BMJ Case Rep 2014 May 5;2014. Epub 2014 May 5.

Department of Dermatology, Coimbra University Hospital, Coimbra, Portugal.

Osteoma cutis encompasses a group of cutaneous ossifying disorders, more commonly secondary to trauma, inflammation or neoplasms. Fourteen per cent, however, are primary, and these may be syndromatic (associated to Albright's hereditary osteodystrophy) or occur in isolation. We report a case of a 10-year-old girl who presented with a stone-hard plate on the scalp, with no relevant personal or family history, nor changes in calcium-phosphate metabolism, parathyroid hormone or thyroid function. Read More

J Cutan Pathol 2014 Jul 2;41(7):606-11. Epub 2014 Apr 2.

Clarient Pathology Services, Aliso Viejo, CA, USA.

Primary osteoma cutis (cutaneous ossification) is an uncommon disease in which there is bone formation within the skin in the absence of a demonstrable pre-existing condition. Osteoma cutis is a chronic and benign condition. We report a case of a 45-year-old man who developed extramedullary acute leukemia with a myeloid immunophenotype (myeloid sarcoma) with its initial presentation within an isolated pre-existing osteoma cutis in the post-auricular scalp without evidence of systemic acute leukemia or chronic myeloid stem cell disorders. Read More

J Pediatr Orthop B 2014 Sep;23(5):477-84

Departments of aOrthopedics bPediatrics cClinical Genetics, Maastricht Universitair Medisch Centrum+, Maastricht University dGROW School for Oncology and Developmental Biology, Maastricht University eCAPHRI School for Public Health and Primary Care, Maastricht University Medical Center, Maastricht, The Netherlands.

Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat, and deep connective tissue. This condition is distinct from Albright's hereditary osteodystrophy or McCune Albright syndrome (OMIM 103580) and fibrodysplasia ossificans progressiva (OMIM 135100). We present an unusual presentation of POH in a 7-year-old female child. Read More

J Dermatol 2014 Apr 11;41(4):319-21. Epub 2014 Feb 11.

Department of Laboratory Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Republic of Korea.

Plate-like osteoma cutis (PLOC) is a dermatological disorder characterized by superficial ossification and rarely occurs without any underlying tissue abnormalities or pre-existing calcification. The hereditary form of PLOC is mainly due to inactivating mutation in the GNAS gene. Inactivating mutation of the GNAS gene is associated with several diseases, which commonly manifest heterotopic ossification and hormonal resistance; however, the development of malignant neoplasm has never been reported. Read More

Int J Dermatol 2014 Jan 29;53(1):73-5. Epub 2013 Oct 29.

Department of Dermatology, Plastic Surgery and Burn Repair Center, 309 Hospital of Chinese PLA, Beijing, China.

Dermatol Surg 2014 Jan 10;40(1):66-8. Epub 2013 Dec 10.

Midlands Clinic, Dakota Dunes, South Dakota.

Clin Exp Dermatol 2013 Dec;38(8):862-5

Department of Dermatology, Chang Gung Memorial Hospital, Keelung, Taiwan; Chang Gung University College of Medicine, Taoyuan, Taiwan.

Happle-Tinschert syndrome (HTS) is a rare syndrome characterized by segmentally arranged basaloid follicular hamartomas (BFH) associated with ipsilateral osseous, dental and cerebral abnormalities. Happle and Tinschert first reported this disorder in 2008, and three cases with similar presentations have since been reported. We report another case, that of a 40-year-old man, presenting with the characteristic clinical features of HTS. Read More

Nat Med 2013 Nov 29;19(11):1505-12. Epub 2013 Sep 29.

1] National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. [2].

Heterotopic ossification, the pathologic formation of extraskeletal bone, occurs as a common complication of trauma or in genetic disorders and can be disabling and lethal. However, the underlying molecular mechanisms are largely unknown. Here we demonstrate that Gαs restricts bone formation to the skeleton by inhibiting Hedgehog signaling in mesenchymal progenitor cells. Read More

Int J Dermatol 2014 Feb 22;53(2):238-40. Epub 2013 Aug 22.

Departments of Pediatrics and Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.

J Clin Endocrinol Metab 2013 Sep 24;98(9):E1549-56. Epub 2013 Jul 24.

Centre Hospitalier Universitaire de Caen, Department of Genetics, Reference Centre for Rare Disorders of Calcium and Phosphorus Metabolism, F-14000 Caen, France.

Context: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited. Recent studies have suggested that mutations on the paternal, but not the maternal, GNAS allele could be associated with intrauterine growth retardation (IUGR) and thus small size for gestational age.

Objectives: The aim of the study was to confirm and expand these findings in a large number of patients presenting with either PHP-Ia or PPHP/POH. Read More

JAMA Dermatol 2013 Aug;149(8):975-6

Division of Dermatology, School of Medicine, University of Washington, Seattle, Washington.

Bone 2013 Oct 21;56(2):276-80. Epub 2013 Jun 21.

Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, via F. Sforza 35, 20122 Milano, Italy.

Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, deep connective tissues and skeletal muscle. Usually, initial bone formation occurs during infancy as primary osteoma cutis (OC) then progressively extending into deep connective tissues and skeletal muscle over childhood. Most cases of POH are caused by paternally inherited inactivating mutations of GNAS gene. Read More

Pediatr Int 2013 Apr;55(2):257-8

Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul University, Istanbul, Turkey.

J Fam Pract 2013 Jan;62(1):37-8

University of Texas Southwestern Medical Center, Dallas, TX, USA.

The patient didn't have diabetes, and wound and blood cultures were negative for infection. So what was causing these recurrent ulcers? Read More

Pediatr Dermatol 2012 Jul-Aug;29(4):483-4. Epub 2012 May 21.

Division of Dermatology, University of Texas Health Science Center San Antonio, San Antonio, Texas, USA.

We report a case of osteoma cutis associated with a GNAS mutation in a 7-month-old boy. The patient displayed no other laboratory or physical abnormalities to suggest other GNAS-associated disorders of cutaneous ossification, including Albright's hereditary osteodystrophy or pseudohypoparathyroidism 1A, although a history of intrauterine growth restriction was troubling for progressive osseous heteroplasia. A review of the clinical and laboratory manifestations of these disorders is discussed, as well as differentiating features. Read More

J Dermatol Case Rep 2011 Dec;5(4):77-81

Department of Anatomopathology, El Mongi Slim Hospital, Tunis, Tunisia.

Background: Miliary osteoma cutis (OC) of the face is a rare benign extra skeletal bone formation. For our knowledge, only 23 cases have been reported in the English literature. These lesions may be primary or secondary. Read More

Ophthal Plast Reconstr Surg 2012 Jan-Feb;28(1):74-5

Ann Dermatol 2011 Oct 31;23(Suppl 2):S247-9. Epub 2011 Oct 31.

Department of Dermatology, Hallym Sacred Heart Hospital, College of Medicine, Hallym University, Anyang, Korea.

Becker's nevus is a relatively common acquired focal epidermal melanotic hypermelanosis usually found in the region of the shoulder girdle of young men. Various skeletal malformations and cutaneous dermatoses have been reported in Becker's nevus. Osteoma cutis is a rare disorder characterized by compact bone formation in the dermis or subcutaneous tissue. Read More

Am J Dermatopathol 2011 Dec;33(8):858-60

Department of Medicine, Division of Dermatology, Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA.

Heterotopic bone formation in the skin, osteoma cutis, occurs in a variety of clinical settings. Primary osteoma cutis arises in otherwise unaffected skin, often in patients with systemic conditions, whereas secondary osteoma cutis is associated with cutaneous neoplasms and inflammation (metaplastic ossification). Metaplastic ossification almost exclusively affects the dermis. Read More

Ann Dermatol Venereol 2011 Nov 30;138(11):736-8. Epub 2011 Jun 30.

Service de dermatologie, centre hospitalier, 194, avenue Rubillard, 72000 Le Mans, France.

Background: Multiple cutaneous osteomas are a rare complication of chronic inflammatory acne that often goes unrecognized. We report a case concerning a 35-year-old woman.

Patients And Methods: A 35-year-old woman had been treated for acne since the age of 22 years, as part of which she received two courses of oral isotretinoin. Read More

Dermatol Online J 2011 Oct 15;17(10). Epub 2011 Oct 15.

Department of Dermatology, New York University, New York, New York, USA.

Plate-like osteoma cutis is a rare disorder that has been historically classified as a congenital syndrome. It has a possible relationship to a mutation in the gene (GNAS1) that encodes the α-subunit of the stimulatory G protein, which regulates adenyl cyclase activity. We report a case of extensive plaque-like masses on the scalp and face with no abnormalities in calcium or phosphate metabolism and no preceding inflammatory cutaneous conditions. Read More

Skinmed 2011 Jul-Aug;9(4):258-9

University of Texas Medical Branch, Medical School, Galveston, USA.

A 62-year-old Asian woman presented with multiple small, rock-hard papular lesions on her face (Figure). She had no previous history of acne vulgaris or cutaneous malignancy. She had been diagnosed with breast cancer in 1995 and was treated with left lumpectomy followed by combination chemotherapy consisting of cyclophosphamide, 5-fluorouracil, and methotrexate. Read More

J Cosmet Laser Ther 2011 Oct;13(5):227-30

Dermatology, Chungnam National University Hospital, 33 Munhwa-ro, Jung-Gu, Daejeon, Republic of Korea.

Miliary osteoma cutis refers to the variant of morphologically normal bone formation disorder in the dermis or subcutaneous tissue. The etiology of miliary osteoma cutis is still uncertain. But it may be due to osteoblastic metaplasia of mesenchymal elements. Read More