Search Our Scientific Publications & Authors

Indian J Dermatol Venereol Leprol 2019 Mar 12. Epub 2019 Mar 12.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Clin Cosmet Investig Dermatol 2019 13;12:123-132. Epub 2019 Feb 13.

Compass Dermatopathology, San Diego, CA, USA.

Painful tumors of the skin present as dermal or subcutaneous nodules. They can originate from several sources: adipose tissue, cartilage degeneration, deposition of bone or calcium, eccrine glands, fibrous tissue, infiltration of benign (endometrium) or malignant (metastatic neoplasm) tissue, muscle, nerve, or vascular structures. Although pathologic evaluation of the lesion is necessary to determine the diagnosis, it is possible to make a reasonable differential diagnosis based on knowledge of prior tumors that have appeared as tender lesions. Read More

Pediatr Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Dermatology, General University Hospital of Alicante, Healthcare and Biomedical Research Institute of Alicante (ISABIAL), Alicante, Spain.

We report three cases of patients with pseudohypoparathyroidism or pseudopseudohypoparathyroidism. These diseases are considered GNAS inactivating mutation syndromes that are characterized by a diversity of alterations among which a particular phenotype and specific endocrine or ossification abnormalities may be found. These patients may present with hard cutaneous nodules, which can represent osteoma cutis. Read More

Dermatol Pract Concept 2019 Jan 31;9(1):24-27. Epub 2019 Jan 31.

Dermatology, Private Practice, Ciudad de México, Mexico.

Clin Pediatr Endocrinol 2019 31;28(1):15-18. Epub 2019 Jan 31.

Department of Pediatrics, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.

J Comp Pathol 2019 Jan 27;166:1-4. Epub 2018 Nov 27.

Department of Veterinary Pathology and Research Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, South Korea. Electronic address:

A 9-year-old neutered male Shih Tzu was presented with three contiguous firm nodules in the subcutaneous tissue of the interscapular region. Histopathological examination revealed that the nodules consisted of mature lamellar bone with a Haversian system, with no apparent lesion around the bone. Clinical examination revealed that the dog had no underlying disease and no history of trauma at the lesion site. Read More

Cureus 2018 Aug 21;10(8):e3170. Epub 2018 Aug 21.

Dermatologist, San Diego Family Dermatology, San Diego, USA.

Osteoma cutis is the formation of bone within the skin. It can present as either primary osteoma cutis or secondary osteoma cutis. Secondary osteoma cutis is more common and is associated with inflammatory, infectious, and neoplastic disorders, including basal cell carcinoma. Read More

Eur J Dermatol 2018 Aug;28(4):434-439

Dermatology Department, Hospital de Santo António dos Capuchos, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.

Multiple miliary osteoma cutis consists of heterotopic foci of bone tissue in the dermis and subcutaneous tissue. Patients usually present with multiple, asymptomatic facial papules of several millimetres in diameter which cause distress regarding their cosmetic appearance. The condition is described as rare, as only a few cases have been reported since its first description in 1864 by Virchow. Read More

Cureus 2018 Jul 19;10(7):e3003. Epub 2018 Jul 19.

Department of Oral Medicine and Diagnostic Sciences, CWRU School of Dental Medicine, Cleveland, USA.

In this study, we report a rare case of osteoma cutis (OC) and tonsillolith, diagnosed using cone beam computed tomography. The dystrophic calcifications in the face and tonsils were incidentally found during examination of the patient's scan with no relation to the main chief complaint. The diagnosis was OC, combined with dystrophic calcification of the tonsils. Read More

J Cutan Aesthet Surg 2018 Apr-Jun;11(2):95-97

Department of Dermatology, Apollo Hospitals, Secunderabad, Telangana, India.

Multiple miliary osteoma cutis is an uncommon condition presenting as multiple skin-colored papules of variable sizes on the face. A 48-year-old woman presented with multiple skin-colored hard papules on both cheeks. Examination revealed firm-to-hard dome-shaped asymptomatic papules in cluster over both cheeks. Read More

JAAD Case Rep 2018 Aug 1;4(7):648-650. Epub 2018 Aug 1.

NorthShore University, Department of Medicine Division of Dermatology, Skokie, Illinois.

Am J Dermatopathol 2019 Feb;41(2):e19-e21

Pathology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.

Osteonevus of Nanta is a rare histopathologic variant of melanocytic nevus that results from ossification of the dermis between dermal nests of melanocytes. Most cases described in the literature have been associated with long-standing intradermal nevi and were often located in the upper part of the body. We report a lesion on the shoulder of an elderly man showing the association of a common blue nevus and osteoma cutis, an exceptional feature which has been previously reported in 2 instances. Read More

Dermatol Online J 2018 Mar 15;24(3). Epub 2018 Mar 15.

Department of Dermatology, University of California San Diego, La Jolla, California, USA.

Osteoma cutis, the development of bone in the dermis and/or subcutaneous fat, can occur as either a primary or secondary condition. Perforating osteoma cutis is rare. A man with a solitary lesion of perforating osteoma cutis is described and the features of individuals with a single perforating osteoma cutis skin lesion are reviewed. Read More

Bone 2018 04;109:1-2

Department of Orthopaedic Surgery, The Perelman School of Medicine of The University of Pennsylvania, Philadelphia, PA 19104; Department of Genetics, The Perelman School of Medicine of The University of Pennsylvania, Philadelphia, PA 19104; Department of The Center for Research in FOP & Related Disorders, The Perelman School of Medicine of The University of Pennsylvania, Philadelphia, PA 19104. Electronic address:

Dermatol Online J 2017 Sep 15;23(9). Epub 2017 Sep 15.

Department of Dermatology, Mount Sinai Health System, New York, New York.

Osteoma cutis is the presence of bone within the dermis or subcutaneous tissue. This condition may occur sporadically or secondary to other dermatologic or genetic conditions. We present a 12-year-old girl with pseudohypoparathyroidism type-Ia who developed osteoma cutis on the right thigh. Read More

Bone 2018 04 7;109:56-60. Epub 2018 Jan 7.

Department of Medicine, Mayo Clinic School of Medicine, Mayo Clinic, Rochester, MN, United States. Electronic address:

Mesenteric heterotopic ossification (MHO) is very rare and occurs in mid- to late-adulthood, usually in the context of prior abdominal surgery. The mechanisms of MHO are unknown. Here we describe the case of a 72-year-old man with MHO. Read More

An Bras Dermatol 2017 ;92(5 Suppl 1):113-114

Pathological Anatomy Service, Complejo Hospitalario Universitario de Albacete, Albacete, Espanha.

Osteoma cutis or cutaneous ossification is a rare entity characterized by the formation of bone in the skin. We present an isolated primary osteoma cutis located on the palm, an atypical location. Read More

Bone 2018 04 9;109:134-142. Epub 2017 Oct 9.

Department of Developmental Biology, Harvard School of Dental Medicine, 188 Longwood Ave. Boston, MA 02215, USA. Electronic address:

Bone formation is exquisitely controlled both spatially and temporally. Heterotopic ossification (HO) is pathological bone formation in soft tissues that often leads to deleterious outcomes. Inherited genetic forms of HO can be life-threatening and can happen as early as in infancy. Read More

JAMA Ophthalmol 2017 10;135(10):1113-1114

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.

J Eur Acad Dermatol Venereol 2018 Jan 16;32(1):e20-e22. Epub 2017 Jul 16.

Dermatology Department, Hospital de Santo António dos Capuchos - Centro Hospitalar de Lisboa Central, Lisbon, Portugal.

Case Rep Dent 2017 30;2017:8468965. Epub 2017 May 30.

Oral Diagnostic Sciences Department, Division of Oral and Maxillofacial Radiology, Faculty of Dentistry, King Abdulaziz University, P.O. Box 21589, Jeddah, Saudi Arabia.

Osteoma cutis (OC) is a rare benign disorder where osseous nodules form in the reticular layer of normal skin. These nodules are formed by the deposition of lamellar bone and are characterized by osteocytes in the core and osteoclasts around the periphery. Interpretation of osteoma cutis cases has always been challenging especially using conventional two-dimensional (2D) radiographs, owing to difficulty in localization. Read More

Ophthalmic Plast Reconstr Surg 2017 Nov/Dec;33(6):e166-e169

*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 bony 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.

Indian J Dermatol Venereol Leprol 2017 Jul-Aug;83(4):513-515

Department of Pathology, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India.

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

Nat Rev Endocrinol 2016 Jun 22;12(6):347-56. Epub 2016 Apr 22.

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

Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of the cAMP signalling pathway, rather than of the parathyroid hormone (PTH) receptor itself. Despite the first description of this disorder dating back to 1942, later findings have unveiled complex epigenetic alterations in addition to classic mutations in GNAS underpining the molecular basis of the main subtypes of pseudohypoparathyroidism. Moreover, mutations in PRKAR1A and PDE4D, which encode proteins crucial for Gsα-cAMP-mediated signalling, have been found in patients with acrodysostosis. 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