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Clinical Case Reports Oct 2022The patient had a history of acne vulgaris at a young age. The excisional biopsy from the nodule of the face showed the findings of multiple miliary osteoma cutis...
The patient had a history of acne vulgaris at a young age. The excisional biopsy from the nodule of the face showed the findings of multiple miliary osteoma cutis (MMOC). As were identified in calcified nodules, may be one of the triggering factors for MMOC. MMOC patients need proper skin care because the subcutaneous calcification is slowly formed even after middle age.
PubMed: 36285033
DOI: 10.1002/ccr3.6492 -
Cureus Aug 2022Here, we report a case of a 70-year-old female who presented with a slowly enlarging tender nodule on the right forearm for several months. Physical examination showed a...
Here, we report a case of a 70-year-old female who presented with a slowly enlarging tender nodule on the right forearm for several months. Physical examination showed a faintly blue-tinged freely mobile subcutaneous nodule. Excision was complicated by greater than expected bleeding and revealed an unexpected intravenous mass. Histopathology demonstrated capillary lobules separated by fibrous septae within a vein, consistent with intravenous lobular capillary hemangioma (IVLCH). IVLCH is a rare benign capillary proliferation of unclear etiology. Excision is typically curative and relieves any pain and discomfort the patient might be experiencing. With the addition of IVLCH, we respectfully propose a new acronym for the differential diagnosis of cutaneous tender tumors: intravenous lobular capillary hemangioma, foreign body (reaction), hidradenoma, osteoma cutis, glomus tumor, scar, fibromyxoma, leiomyosarcoma, eccrine angiomatous hamartoma, Dercum's disease (adiposis dolorosa), piezogenic pedal papule, eccrine spiradenoma, neurilemmoma (schwannoma), calcinosis cutis, angioendotheliomatosis, leiomyoma, metastases, angiolipoma, neuroma, dermatofibroma, granular cell tumor, endometriosis, thrombus, blue rubber bleb nevus, angioma, chondrodermatitis nodularis helicis, and keloid ("IF HOGS FLED PEN, CALM AND GET BACK"). Future additions to the cutaneous tender tumor differential diagnosis may require creative additions and rearrangements to this acronym. However, continual updates will allow it to serve both clinicians and pathologists alike as a comprehensive representation of etiologies to consider for cutaneous tender tumors.
PubMed: 36120217
DOI: 10.7759/cureus.28030 -
Children (Basel, Switzerland) May 2022Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH...
Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia. Since hypocalcemia causes life-threatening events, early diagnosis is crucial. However, the diagnosis of PHP is elusive during infancy because PHP is usually diagnosed with hypocalcemia-induced symptoms, which develop later in childhood when calcium requirements increase. A 1-month-old girl was referred to our clinic for elevated thyroid-stimulating hormone (TSH) levels on newborn screening. When measured 1 month after levothyroxine treatment, her TSH level normalized. At 4-months-old, multiple hard nodules were noted on her trunk. A punch skin biopsy revealed osteoma cutis associated with Albright's hereditary osteodystrophy, a major characteristic of PHP. We performed targeted sanger sequencing of the gene and detected a heterozygous variant c.150dupA (p.Ser51Ilefs*3) in both the proband and her mother, causing frameshift and premature termination mutations. The patient was diagnosed with PHP Ia when she had normal calcium, phosphorous, and PTH levels. We report the early diagnosis of PHP Ia without hypocalcemia. It emphasizes the importance of meticulous physical examination in patients with congenital hypothyroidism.
PubMed: 35626900
DOI: 10.3390/children9050723 -
Journal of Nippon Medical School =... Nov 2022Cutaneous ossification is a rare benign dermatological condition in which bone forms in the dermis or subcutaneous tissue. It is classified as primary when it emerges...
Cutaneous ossification is a rare benign dermatological condition in which bone forms in the dermis or subcutaneous tissue. It is classified as primary when it emerges without a pre-existing condition and secondary when it is associated with an underlying condition such as trauma, scars, inflammation, or neoplastic disease. The secondary form accounts for most cases of cutaneous ossification. The pathogenesis of cutaneous ossification is not clear. Keloids are benign fibroproliferative skin disorders characterized by chronic inflammation. Their pathogenesis is also not fully understood. We report two cases of postoperative secondary ossification in lower abdominal keloids and review the literature on secondary ossification of the skin. We speculate that severe chronic inflammation in keloids drives osteoblastic transformation of mesenchymal stem cells, endothelial cells, or fibroblasts in the keloids.
Topics: Humans; Keloid; Endothelial Cells; Inflammation; Abdomen
PubMed: 35400721
DOI: 10.1272/jnms.JNMS.2022_89-502 -
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 -
JAAD Case Reports Apr 2022
PubMed: 35242977
DOI: 10.1016/j.jdcr.2022.01.023 -
Clinical, Cosmetic and Investigational... 2021Osteoma cutis (OC) is a group of rare skin ossification diseases, most of which are secondary to inflammation, scarring, trauma, or tumors, but a small portion are...
Osteoma cutis (OC) is a group of rare skin ossification diseases, most of which are secondary to inflammation, scarring, trauma, or tumors, but a small portion are primary. Plate-like osteoma cutis is rare, especially after puberty. This report documents a case of a 30-year-old female, who presented with multiple stone-hard plates on the forehead and bilateral temples, with no relevant family history, or abnormalities in metabolism. These lesions showed slow progression over the last 11 years. The pathological diagnosis confirmed osteoma cutis. The forehead lesions were treated surgically due to aesthetic problems. In addition, long-term follow-up and observations are still needed to determine progression to deeper levels of tissue.
PubMed: 34588790
DOI: 10.2147/CCID.S325501 -
AACE Clinical Case Reports 2021We present a patient with pseudopseudohypoparathyroidism (PPHP) who developed both gout and synovial chondromatosis, in addition to the classical Albright's hereditary...
OBJECTIVE
We present a patient with pseudopseudohypoparathyroidism (PPHP) who developed both gout and synovial chondromatosis, in addition to the classical Albright's hereditary osteodystrophy phenotype.
METHODS
The patient's clinical course, laboratory data, and imaging are presented.
RESULTS
The patient is a 40-year-old male with no pertinent family history who presented with findings of Albright's hereditary osteodystrophy, including short stature, obesity, rounded face, shortened fourth and fifth digits, and osteoma cutis (heterotopic subcutaneous ossification), which required surgical removal for pain relief. Genetic testing confirmed a GNAS mutation, and labs showed normal parathyroid hormone, calcium, and phosphorus levels, diagnostic of PPHP. The patient later developed gout and synovial chondromatosis, a rare benign process where the synovial membrane forms calcified loose bodies within the joint.
CONCLUSION
The patient case highlights the musculoskeletal complications of PPHP. Though PPHP has been rarely associated separately with gout or synovial chondromatosis, this is the first reported patient to have developed both conditions. This case raises the significance of multidisciplinary follow up for potential orthopedic complications. Moreover, the case underscores the importance of genetics and epigenetics in skeletal health, independent of calcium homeostasis in the blood.
PubMed: 34095483
DOI: 10.1016/j.aace.2020.11.036 -
Skin Appendage Disorders Apr 2021Osteoma cutis (OC) or cutaneous ossification refers to uncommon bone formation in the skin. Primary OC develops without any predisposing factor or pre-existing lesion,...
Osteoma cutis (OC) or cutaneous ossification refers to uncommon bone formation in the skin. Primary OC develops without any predisposing factor or pre-existing lesion, whereas secondary OC sets out as a dystrophic ossification following traumatic, cicatricial, and neoplastic factors or other cutaneous inflammations. Herein, we report a rare case of long-standing progressive primary OC of the scalp resected in 3 sessions with no recurrence after 1 year.
PubMed: 34055911
DOI: 10.1159/000512785 -
Indian Dermatology Online Journal 2021Progressive osseous heteroplasia (POH) is a rarely occurring genetic condition characterized by severe segmental ossification involving the skin and deep connective...
Progressive osseous heteroplasia (POH) is a rarely occurring genetic condition characterized by severe segmental ossification involving the skin and deep connective tissues including the muscles. So far, the disorder is generally described as an autosomal dominant trait. By contrast, the following arguments are in favor of the alternative concept that POH should rather be taken as a non-specific segmental manifestation of different inactivation disorders such as Albright hereditary osteodystrophy (AHO) with hormone resistance, AHO without hormone resistance, and osteomatosis cutis. Presently, POH has got its own OMIM number 166350 but this is obviously wrong because the disorder does not reflect heterozygosity for a mutation. Conversely, the disorder is most likely due to an early event of postzygotic loss of heterozygosity with loss of the corresponding wild-type allele. This alternative concept, as proposed in 2016, offers a plausible explanation for the following features of POH. Familial occurrence is usually absent. POH is usually observed in families with one of the three inactivation disorders as mentioned above. Mosaicism is suggested by the pronounced segmental manifestation of POH and by its lateralization. Some patients have, in addition to POH, bilaterally disseminated features of osteomatosis cutis or AHO, and other patients have family members with one of these nonsegmental disorders. Remarkably, POH tends to appear much earlier than the nonsegmental inactivation disorders. - Molecular support of the concept was documented in a superficial variant of POH called 'plate-like osteoma cutis'. In several other autosomal dominant skin disorders, molecular corroboration of the theory of superimposed mosaicism has been provided. - For all of these reasons, it is unlikely that POH can further be taken as a distinct autosomal dominant trait. Generation of more molecular data in multiple cases of POH occurring in inactivation disorders will be crucial to corroborate the proposed concept.
PubMed: 33959533
DOI: 10.4103/idoj.IDOJ_584_20