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The Journal of Clinical and Aesthetic... Nov 2020The development of calcium salt deposits in the skin can occur in the presence or absence of membranous ossification and are categorized into osteoma cutis (i.e.,...
The development of calcium salt deposits in the skin can occur in the presence or absence of membranous ossification and are categorized into osteoma cutis (i.e., cutaneous osteoma) and calcinosis cutis. For the former, distinction into primary or secondary osteoma cutis is mainly based on clinical and histopathological parameters, as primary osteoma cutis originates without any underlying intradermal inflammatory or neoplastic process, as opposed to a far greater number of secondary osteoma cutis that occur on the grounds of inflammation or tumors. Genetic disorders might predispose a person to the formation of these overall rare tumors. However, some patients develop primary osteoma cutis in the absence of any genetic background. In pre-menopausal women with fair skin, the condition of multiple miliary osteoma cutis is a relevant differential diagnosis for solid subcutaneous facial nodules. While pathogenesis remains unclear, most affected individuals have suffered from acne vulgaris at some point. Excision might be a viable option for disturbing lesions, as are ablative lasers. Here, we discuss and review relevant causes of calcium salt deposits in the skin based on a notable case of multiple primary osteoma cutis of the face in an otherwise healthy woman.
PubMed: 33282099
DOI: No ID Found -
JAAD Case Reports Apr 2022
PubMed: 35242977
DOI: 10.1016/j.jdcr.2022.01.023 -
Dermatology Online Journal Feb 2021Basal cell carcinoma (BCC) can be a component of a collision tumor in which the skin cancer is present at the same cutaneous site as either a benign tumor or a malignant... (Review)
Review
Basal cell carcinoma (BCC) can be a component of a collision tumor in which the skin cancer is present at the same cutaneous site as either a benign tumor or a malignant neoplasm. However, BCC can also concurrently occur at the same skin location as a non-neoplastic cutaneous condition. These include autoimmune diseases (vitiligo), cutaneous disorders (Darier disease), dermal conditions (granuloma faciale), dermal depositions (amyloid, calcinosis cutis, cutaneous focal mucinosis, osteoma cutis, and tattoo), dermatitis, miscellaneous conditions (rhinophyma, sarcoidal reaction, and varicose veins), scars, surgical sites, systemic diseases (sarcoidosis), systemic infections (leischmaniasis, leprosy and lupus vulgaris), and ulcers. The relationship between the BCC and the coexisting non-neoplastic condition may be coincidental or possibly related to the development of the BCC; alternatively, the development of the BCC may be unrelated to the coexisting non-neoplastic conditions and secondary to either a Koebner isomorphic response or a Wolf isotopic response in an immunocompromised district of skin. This paper reviews several of the case reports and studies that describe the association of BCC with these non-neoplastic cutaneous conditions.
Topics: Carcinoma, Basal Cell; Humans; Skin Diseases; Skin Neoplasms
PubMed: 33818975
DOI: No ID Found -
Cureus Jun 2019Osteoma cutis is a benign cutaneous lesion characterized by the presence of bone within the dermis or subcutaneous fat. It most often develops in association with other...
Osteoma cutis is a benign cutaneous lesion characterized by the presence of bone within the dermis or subcutaneous fat. It most often develops in association with other skin lesions such as cutaneous tumors. Nevus sebaceus is a benign hamartoma of the skin that is composed of epidermal and dermal components. It most commonly appears on the scalp and may give rise to either benign or malignant secondary neoplasms. The clinical and pathologic features of a 36-year-old man with a nevus sebaceus and associated osteoma cutis are described. In addition, osteoma cutis-associated neoplasms are reviewed. Secondary osteoma cutis has been observed with both benign and malignant neoplasms as well as various non-neoplastic skin conditions. However, to the best of our knowledge, osteoma cutis has not previously been described in association with nevus sebaceus. Nevus sebaceus can now be added to the list of cutaneous osteoma-associated skin tumors (COASTs).
PubMed: 31453032
DOI: 10.7759/cureus.4959 -
Skin Research and Technology : Official... Nov 2023
Topics: Humans; Skin Diseases, Genetic; Ossification, Heterotopic; Bone Diseases, Metabolic; Skin Neoplasms
PubMed: 38009037
DOI: 10.1111/srt.13510 -
Indian Dermatology Online Journal 2023
PubMed: 37266104
DOI: 10.4103/idoj.idoj_321_22 -
JAAD Case Reports Mar 2023
PubMed: 36873053
DOI: 10.1016/j.jdcr.2023.01.010 -
Endocrine Jun 2021Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein... (Review)
Review
Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key component of the PTH/PTHrP signaling pathway. Since its first description, different studies unveiled, beside the molecular basis for PHP, the existence of different subtypes and of diseases in differential diagnosis associated with genetic alterations in other genes of the PTH/PTHrP pathway. The clinical and molecular overlap among PHP subtypes and with different but related disorders make both differential diagnosis and genetic counseling challenging. Recently, a proposal to group all these conditions under the novel term "inactivating PTH/PTHrP signaling disorders (iPPSD)" was promoted and, soon afterwards, the first international consensus statement on the diagnosis and management of these disorders has been published. This review will focus on the major and minor features characterizing PHP/iPPSDs as a group and on the specificities as well as the overlap associated with the most frequent subtypes.
Topics: Bone Diseases, Metabolic; Dysostoses; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Parathyroid Hormone; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 33179219
DOI: 10.1007/s12020-020-02533-9 -
BMC Endocrine Disorders Mar 2022The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic...
BACKGROUND
The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders of GNAS inactivation produce several different clinical phenotypes including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). The clinical and biochemical characteristics overlap of PHP subtypes and other related disorders presents challenges for differential diagnosis.
METHODS
We enrolled a total of 11 Chinese children with PHP in our study and analyzed their clinical characteristics, laboratory results, and genetic mutations.
RESULTS
Among these 11 patients, nine of them (9/11) presented with resistance to parathyroid hormone (PTH); and nine (9/11) presented with an Albright's hereditary osteodystrophy (AHO) phenotype. GNAS abnormalities were detected in all 11 patients, including nine cases with GNAS gene variations and two cases with GNAS methylation defects. These GNAS variations included an intronic mutation (c.212 + 3_212 + 6delAAGT), three missense mutations (c.314C > T, c.308 T > C, c.1123G > T), two deletion mutations (c.565_568delGACT*2, c.74delA), and two splicing mutations (c.721 + 1G > A, c.432 + 1G > A). Three of these mutations, namely, c.314C > T, c.1123G > T, and c.721 + 1G > A, were found to be novel. This data was then used to assign a GNAS subtype to each of these patients with six cases diagnosed as PHP1a, two cases as PHP1b, one as PPHP, and two as POH.
CONCLUSIONS
Evaluating patients with PTH resistance and AHO phenotype improved the genetic diagnosis of GNAS mutations significantly. In addition, our results suggest that when GNAS gene sequencing is negative, GNAS methylation study should be performed. Early genetic detection is required for the differential diagnosis of GNAS disorders and is critical to the clinician's ability to distinguish between heterotopic ossification in the POH and AHO phenotype.
Topics: Adolescent; Bone Diseases, Metabolic; Child; Child, Preschool; China; Chromogranins; Female; GTP-Binding Protein alpha Subunits, Gs; Humans; Infant; Male; Ossification, Heterotopic; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 35296306
DOI: 10.1186/s12902-022-00941-8