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Annals of Dermatology Oct 2011Becker'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...
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. Secondary ossification on nevi has been reported, but not with Becker's nevus. Herein, we report a case of Becker's nevus with accompanying osteoma cutis in an 18-year-old female.
PubMed: 22148062
DOI: 10.5021/ad.2011.23.S2.S247 -
Dermatology Online Journal Oct 2011Plate-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... (Review)
Review
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. With less than ten reported cases, to our knowledge, this is one the few cases of acquired plate-like osteoma cutis described in the literature.
Topics: Calcium; Chromogranins; Facial Dermatoses; GTP-Binding Protein alpha Subunits, Gs; Humans; Male; Middle Aged; Ossification, Heterotopic; Osteoma; Phosphorus; Scalp Dermatoses; Skin Diseases; Thigh; Thorax
PubMed: 22031627
DOI: No ID Found -
Indian Journal of Dermatology,... 2011
Topics: Adult; Follow-Up Studies; Humans; Male; Neoplasm Invasiveness; Neoplasm Staging; Osteoma; Risk Assessment; Scalp; Skin Neoplasms; Surgical Procedures, Operative; Tissue Expansion; Treatment Outcome; Wound Healing
PubMed: 21220893
DOI: 10.4103/0378-6323.75005 -
Dermatology Online Journal Jun 2010Osteoma cutis, a rare benign condition characterized by the presence of osseous nodules are composed of lamellar bone with osteocytes in the center and osteoclasts in...
Osteoma cutis, a rare benign condition characterized by the presence of osseous nodules are composed of lamellar bone with osteocytes in the center and osteoclasts in the external area, in the reticular layer of the skin. Osteoma cutis can be either primary, arising de novo in healthy skin, or secondary, developing in association with pre-existing neoplastic or inflammatory skin lesions. We present a 25-year-old man with plaque-like osteoma cutis.
Topics: Adult; Bone Neoplasms; Facial Neoplasms; Forehead; Humans; Male; Osteoma; Skin Neoplasms
PubMed: 20579467
DOI: No ID Found -
Annals of Dermatology May 2009Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing...
Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder that's characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.
PubMed: 20523775
DOI: 10.5021/ad.2009.21.2.154 -
Bone Mar 2010Progressive osseous heteroplasia (POH) is a rare genetic disorder characterized by dermal ossification during infancy and progressive ossification into deep connective... (Comparative Study)
Comparative Study
Progressive osseous heteroplasia (POH) is a rare genetic disorder characterized by dermal ossification during infancy and progressive ossification into deep connective tissue during childhood. POH is at the severe end of a spectrum of GNAS-associated ossification disorders that include osteoma cutis and Albright Hereditary Osteodystrophy (AHO). Here we describe two girls who have different clinical presentations that reflect the variable expression of GNAS-associated disorders of cutaneous ossification. Each girl had a novel heterozygous inactivating mutation in the GNAS gene. One girl had POH limited to the left arm with severe contractures and growth retardation resulting from progressive heterotopic ossification in the deep connective tissues. The other girl had AHO with widespread, superficial heterotopic ossification but with little functional impairment. While there is presently no treatment or prevention for GNAS-associated ossification disorders, early diagnosis is important for genetic counselling and for prevention of iatrogenic harm.
Topics: Adolescent; Child; Chromogranins; Female; GTP-Binding Protein alpha Subunits, Gs; Gene Silencing; Humans; Mutation; Ossification, Heterotopic; Skin
PubMed: 19900597
DOI: 10.1016/j.bone.2009.11.001 -
Cases Journal Jul 2009Osteoma cutis of the foot is extremely rare and there are very few reported cases. The incidence of in-growing toenail in the United Kingdom is estimated to be 10,000...
Osteoma cutis of the foot is extremely rare and there are very few reported cases. The incidence of in-growing toenail in the United Kingdom is estimated to be 10,000 new cases per year and many are treated non-operatively. We present a case where osteoma cutis was masquerading as an in-growing toenail, and wish to highlight the condition as a differential diagnosis for this condition. There have been case reports of bony cutaneous lesions of the foot, both benign and malignant and so these are especially important to consider in the differential diagnoses where non-operative management is being considered.
PubMed: 19829929
DOI: 10.4076/1757-1626-2-7176 -
Journal of the American Veterinary... Sep 2009
Topics: Animals; Female; Osteoma; Skin Neoplasms; Turtles
PubMed: 19719438
DOI: 10.2460/javma.235.5.511 -
Journal of Clinical Research in... 2009Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype...
Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression. We present a 2-year-old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia. Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism.
Topics: Bone Neoplasms; Calcinosis; Child, Preschool; Chromogranins; Congenital Hypothyroidism; Frameshift Mutation; GTP-Binding Protein alpha Subunits, Gs; Humans; Male; Osteoma; Pseudohypoaldosteronism
PubMed: 21274302
DOI: 10.4274/jcrpe.v1i5.244 -
American Journal of Medical Genetics.... Jul 2008Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep...
Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and GNAS mutation analysis. We found, based on clinical criteria, that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extra-skeletal ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).
Topics: Adolescent; Adult; Age of Onset; Bone Neoplasms; Child; Child, Preschool; Chromogranins; Female; Fibrous Dysplasia, Polyostotic; GTP-Binding Protein alpha Subunits, Gs; Humans; Infant; Male; Middle Aged; Mutation; Ossification, Heterotopic; Osteoma; Pedigree; Phenotype; Pseudohypoparathyroidism; Skin; Skin Neoplasms; Subcutaneous Tissue; Syndrome
PubMed: 18553568
DOI: 10.1002/ajmg.a.32346