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Dermatology Online Journal Apr 2017We 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... (Review)
Review
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.
Topics: Adult; Biopsy; Bone Diseases, Metabolic; Dermoscopy; Facial Dermatoses; Female; Forehead; Humans; Ossification, Heterotopic; Skin; Skin Diseases, Genetic
PubMed: 28541879
DOI: No ID Found -
Indian Journal of Dermatology,... 2017
Topics: Adult; Bone Diseases, Metabolic; Cutis Laxa; Female; Humans; Ossification, Heterotopic; Pseudoxanthoma Elasticum; Skin Diseases, Genetic
PubMed: 28540877
DOI: 10.4103/ijdvl.IJDVL_690_16 -
Indian Journal of Dermatology,... 2017
Topics: Asymptomatic Diseases; Bone Diseases, Metabolic; Cheek; Female; Humans; Middle Aged; Ossification, Heterotopic; Skin Abnormalities; Skin Diseases, Genetic
PubMed: 28440231
DOI: 10.4103/ijdvl.IJDVL_432_16 -
Dermatology Online Journal Mar 2017Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary...
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].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]. This disease isassociated with a variety of phenotypic traits includingcutaneous ossification, short stature, brachydactyly,obesity, and mental retardation. It should be notedthat brachydactyly is the most specific feature of AHO[4]. However, owing to variable expressivity individualsmay present only with a subset of these symptoms [5,6]. The cutaneous ossification observed in patientswith AHO may be seen in infancy or early childhoodand is sometimes the earliest presenting symptom.Nonetheless, because clinical features of AHO canbe seen in the absence of metabolic derangements(i.e. normal serum calcium, phosphorus, and PTHlevels) an early diagnosis is often missed and delayedfor many years. Herein, we present a case of miliaryosteoma cutis of the face in a 68 year-old woman withphenotypic features of AHO and laboratory studiesconsistent with type 1a PHP.
Topics: Acne Vulgaris; Aged; Bone Diseases, Metabolic; Brachydactyly; Facial Dermatoses; Female; Humans; Ossification, Heterotopic; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 28329522
DOI: No ID Found -
AJNR. American Journal of Neuroradiology Apr 2017Osteoma 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...
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. We hypothesized that this routinely encountered facial calcification represents primary miliary osteoma cutis and is a common, benign, age-related finding.
MATERIALS AND METHODS
We retrospectively reviewed 1315 consecutive sinus CTs obtained during an 8-month period and their associated demographics. The number of dermal radiopaque lesions with Hounsfield units of >150 was counted, and we analyzed the association between the prevalence of these lesions and patients' demographics with logistic regression methods.
RESULTS
Five hundred ninety-nine males and 716 females from 4 to 90 years of age were included in the study (mean, 52 versus 51 years; = .259). Among these, 252 males and 301 females had small facial calcified nodules (42.1% versus 42.0%, = .971). The patient's age was a statistically significant predictor for having facial calcified nodules (odds ratio = 1.02, < .001), while the patient's sex was not ( = .826).
CONCLUSIONS
Facial calcified nodules, observed in routine head and face CT imaging, are common, benign, age-related findings, which have been largely overlooked in the radiology literature. It is a manifestation of primary miliary osteoma cutis.
Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Bone Diseases, Metabolic; Calcinosis; Child; Child, Preschool; Face; Facial Neoplasms; Female; Humans; Incidental Findings; Male; Middle Aged; Ossification, Heterotopic; Prevalence; Retrospective Studies; Sex Factors; Skin Diseases, Genetic; Tomography, X-Ray Computed; Young Adult
PubMed: 28232495
DOI: 10.3174/ajnr.A5096 -
European Journal of Pediatrics Feb 2017We 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...
UNLABELLED
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. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made.
CONCLUSION
We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: • Osteoma cutis was not a known feature in Rothmund-Thomson patients. • Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: • RTS is a well-described syndrome caused by mutations in the RECQL4 gene. • Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8.
Topics: Adult; Bone Diseases, Metabolic; Bone and Bones; Calcinosis; Chromosomes, Human, Pair 8; Delayed Diagnosis; Humans; Intellectual Disability; Lymphoma, Non-Hodgkin; Male; Ossification, Heterotopic; Osteoporosis; Rothmund-Thomson Syndrome; Skin Diseases, Genetic; Syndrome; Trisomy
PubMed: 28039508
DOI: 10.1007/s00431-016-2834-3 -
International Journal of Surgery Case... 2017Pilomatricomas are benign follicular skin appendage tumors, commonly occurring in children and young adults. Most patients admit to dermatologists to seek treatment and...
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. Clinical examination revealed an asymptomatic lump, the overlying skin revealed no abnormalities. Patient was unaware of the lesion.
DISCUSSION
Pilomatricomas are commonly encountered in the maxillofacial region, although not considered in differential diagnosis by dental professionals. They usually present as, asymptomatic, subcutaneous masses; although symptomatic cases have been reported. In literature, common differential diagnosis for head and neck pilomatricoma includes sebaceous cyst, ossifying hematoma, giant cell tumor, chondroma, dermoid cyst, foreign body reaction, degenerating fibroxanthoma, metastatic bone formation, and osteoma cutis. We are of the opinion that temporomandibular joint disease should also be considered in differential diagnosis for preauricular pilomatricoma.
CONCLUSION
Pediatric dentists should be aware of the condition and consider it in the differential diagnosis of pediatric conditions involving the temporomandibular joint.
PubMed: 27907820
DOI: 10.1016/j.ijscr.2016.11.011 -
European Journal of Endocrinology Dec 2016Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which... (Review)
Review
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. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway.
DESIGN AND METHODS
Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway.
RESULTS AND CONCLUSIONS
After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term 'inactivating PTH/PTHrP signalling disorder' (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like 'pseudo' and (iv) eliminates the clinical or molecular overlap between diseases. We believe that the use of this nomenclature and classification will facilitate the development of rationale and comprehensive international guidelines for the diagnosis and treatment of iPPSDs.
Topics: Bone Diseases, Metabolic; Dysostoses; Europe; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Parathyroid Hormone; Parathyroid Hormone-Related Protein; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 27401862
DOI: 10.1530/EJE-16-0107 -
Journal of Ultrasound 2016Multiple miliaryosteoma cutis (MMOC) is a rare nodular skin disease, characterized by tiny bone nodules in the dermis and subcutaneous tissue, presenting clinically as...
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. Skin ultrasound examination, cutaneous biopsy and laboratory evaluation were performed.
RESULTS
High-frequency ultrasound showed the presence of multiple hyperechogenic linear and roundish structures, associated by hypoechogenic shadow. The histology revealed a normal orthokeratotic stratified epithelium with fragment of mature lamellar bone localized at level of the reticular dermis. Laboratory evaluation was normal. According to the clinical, pathological, laboratory and instrumental analyses, a final diagnosis of miliaryosteoma cutis (or primary osteoma cutis not associated with Albright's hereditary osteodystrophy) was made.
CONCLUSION
In case of multiple papules of subcutaneous tissue, the diagnosis of MMOC, although rare, should be considered and high-frequency sonography, identifying the calcifications, suggests diagnosis.
Topics: Biopsy; Bone Diseases, Metabolic; Diagnosis, Differential; Facial Dermatoses; Female; Humans; Middle Aged; Ossification, Heterotopic; Skin Diseases, Genetic; Ultrasonography
PubMed: 27298645
DOI: 10.1007/s40477-015-0184-z -
Annals of Dermatology Aug 2015
PubMed: 26273166
DOI: 10.5021/ad.2015.27.4.452