Idiopathic tumoral calcinosis associated with congenital malformation of the hand. Case report

Amadei, Federico; Petrolati, M.

doi:10.1016/s0753-9053(98)80021-5

Cited by 4 publications

(7 citation statements)

References 9 publications

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“…In the upper extremities, TC frequently involves the shoulder and elbow; however, the involvement of hand and wrist remain scarce. 3,[8][9][10][11][12][13][14][15][16] To our knowledge, most of TC hand cases were reported in middle aged patients [9][10][11][12]16 However, only few TC hand lesions were reported in children. One case reported in a 7-month-old infant, three cases in children aged 3-, 5-, and 8-year-old and one case in a 15-year-old teenager.…”

Section: Casementioning

confidence: 87%

“…One case reported in a 7-month-old infant, three cases in children aged 3-, 5-, and 8-year-old and one case in a 15-year-old teenager. [13][14][15][16] Our case presents TC of the extensor indicis proprius tendon. To our knowledge, this is the first case to report TC in the extensor tendon.…”

Section: Casementioning

confidence: 87%

“…To our knowledge, most of TC hand cases were reported in middle aged patients 9–12,16 However, only few TC hand lesions were reported in children. One case reported in a 7‐month‐old infant, three cases in children aged 3‐, 5‐, and 8‐year‐old and one case in a 15‐year‐old teenager 13–16 …”

Section: Discussionmentioning

confidence: 99%

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Tumoral calcinosis in the extensor indicis proprius tendon: A case report

AlShamsi

Al-Dhamin

2023

Clinical Case Reports

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Tumoral calcinosis is a rare clinicopathological entity characterized by the presence of calcified deposits in the periarticular soft tissue. Commonly affecting the hips, buttock, shoulders, and elbow, and less commonly in hands, wrists, and feet. We present a novel case of tumoral calcinosis in a 4-year-old female with an atraumatic wrist swelling for 2 months. It was a diagnostic enigma for the surgeon due to the peculiar site of presentation. However, with the help of a pathologist, we diagnosed and successfully treated tumoral calcinosis of the extensor indicis proprius tendon.

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Section: Casementioning

confidence: 87%

Section: Casementioning

confidence: 87%

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Tumoral calcinosis in the extensor indicis proprius tendon: A case report

AlShamsi

Al-Dhamin

2023

Clinical Case Reports

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“…Eine Beteiligung gelenknaher Schleimbeutel sowie entzündliche Weichteilveränderungen sind typisch [6]. Bevorzugte Lokalisationen sind Schulter-, Ellbogen-und Hüftgelenk, seltener dagegen Meningen, Fußund Handgelenke [1,2,3,19].…”

Section: Diskussionunclassified

Morbus Teutschl�nder Eine seltene benigne Differenzialdiagnose proliferativer Raumforderungen im Weichteilgewebe

Kuchenbauer¹,

Biberthaler²,

Stöger³

et al. 2002

Der Unfallchirurg

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Tumoral calcinosis is a very rare benign soft tissue calcification. It occurs in all age-groups and prefers the shoulder, hip and elbow region as localisation. In most cases, local pain is the leading symptom. The aetiology remains unclear, so far, however, a certain connection to an imbalance of the calcium-/phosphate homeostasis is proposed. The adequate therapy is the complete surgical removal. Our presented case describes an extended occurrence at an unusual localisation and discusses characteristic signs in contrast of the differential diagnoses.

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“…La calcinosis idiopática se presenta en pacientes sanos, es asintomática e incluye la calcinosis escrotal, la calcinosis nodular de Winer o nódulos calcificados subepidérmicos y la calcinosis tumoral familiar 3 . La calcinosis tumoral es una condición rara que se caracteriza por el depósito de calcio periarticular en pacientes normocalcémicos sin conexión al hueso 4,5 .…”

Section: Introductionunclassified

Calcinosis cutis congénita tumoral asociada con encefalopatía epiléptica infantil temprana con variante patogénica en el gen FGF12

Marín-Hernández¹,

Reyes-Salcedo²,

Cárdenas‐Conejo³

et al. 2020

BMHIM

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Introducción: La calcinosis cutis es el depósito de sales insolubles de calcio en la piel y se clasifica, de acuerdo con su patogénesis, en distrófica, metastásica, idiopática, iatrogénica y calcifilaxis. La calcinosis idiopática se presenta en pacientes sanos y es asintomática; incluye la calcinosis escrotal, la calcinosis nodular de Winer o nódulos calcificados subepidérmicos y la calcinosis tumoral familiar. Esta última es una condición rara que se caracteriza por el depósito de calcio periarticular en pacientes normocalcémicos sin conexión al hueso. Caso clínico: Paciente de sexo masculino de 5 meses de edad, quien al séptimo día de vida fue hospitalizado por ictericia multifactorial, sepsis neonatal tardía y apnea con crisis epilépticas. La evolución fue tórpida, con ingresos hospitalarios por crisis epilépticas de difícil manejo, respuesta parcial a la difenilhidantoína y descontrol electrolítico. Mediante la secuenciación del exoma dirigido se detectó una variante patogénica de sentido equivocado en FGF12 que confirmó el diagnóstico de encefalopatía epiléptica temprana número 47. Además, el paciente presentó dermatosis congénita diseminada a las extremidades inferiores con afección en muslos, asintomática, bilateral y simétrica, constituida por hipopigmentación y fóveas duras a la palpación profunda. La biopsia mostró calcificación distrófica. Conclusiones: Se presenta el caso de un lactante con calcinosis cutis congénita profunda asociada con una variante patogénica en el gen FGF12 y con encefalopatía epiléptica, situación clínica que, a la fecha, no había sido reportada en la literatura. Palabras clave: Calcinosis cutis. Calcinosis cutis tumoral. Epilepsia. Edad infantil temprana. Tumorous congenital calcinosis cutis associated with early childhood epileptic encephalopathy with a pathogenic FGF12 gene variant

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Idiopathic tumoral calcinosis associated with congenital malformation of the hand. Case report

Cited by 4 publications

References 9 publications

Tumoral calcinosis in the extensor indicis proprius tendon: A case report

Tumoral calcinosis in the extensor indicis proprius tendon: A case report

Morbus Teutschl�nder Eine seltene benigne Differenzialdiagnose proliferativer Raumforderungen im Weichteilgewebe

Calcinosis cutis congénita tumoral asociada con encefalopatía epiléptica infantil temprana con variante patogénica en el gen FGF12

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