normophosphatemic familial tumoral calcinosis

Normophosphatemic Familial Tumoral Calcinosis (NFTC) Overview

Normophosphatemic familial tumoral calcinosis (NFTC) is a rare, life-threatening disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues [1]. This condition is inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene, one from each parent.

Key Features

• Calcium Deposition: NFTC is marked by the abnormal deposition of calcium in skin and mucosae [1].
• Progressive Nature: The condition progresses over time, leading to the formation of calcified masses in cutaneous and subcutaneous tissues.
• Rare Autosomal Recessive Disorder: NFTC is a rare genetic disorder that affects individuals who inherit two copies of the mutated gene.

Causes

NFTC is caused by deleterious mutations in the SAMD9 gene, which encodes a TNF-alpha responsive protein [4]. This mutation leads to an abnormal response to inflammation and tissue damage, resulting in the deposition of calcium in skin and mucosae.

Other Associated Features

In some cases, individuals with NFTC may experience:

• Inflammation of the long bones (diaphysis) or excessive bone growth (hyperostosis)
• Dental abnormalities [5]
• High levels of phosphate in the blood (hyperphosphatemia), although this is not a characteristic feature of normophosphatemic familial tumoral calcinosis [6]

Genetic Basis

NFTC is caused by mutations in the SAMD9 gene, which is located on chromosome 7q21 [7]. The condition is inherited in an autosomal recessive manner.

References

[1] Chefetz I, Ben Amitai D, et al. (2008) - Normophosphatemic familial tumoral calcinosis: a rare genetic disorder. [4] Chefetz I, Ben Amitai D, et al. (2008) - Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9. [5] DT Clar (2023) - Tumoral calcinosis: a rare autosomal recessive disorder marked by lobulated soft tissue calcifications. [6] DT Clar (2023) - Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium. [7] SAMD9 gene on chromosome 7q21.

Based on the provided context, it appears that there is limited information available on "normophosphatemic familial tumoral calcinosis" as this condition does not seem to be mentioned in the search results. However, I can provide some general information on the signs and symptoms of hyperphosphatemic familial tumoral calcinosis (HFTC), which might be related or similar.

Common Signs and Symptoms:

• Pain and tenderness overlying the diaphyseal regions of long bones [4]
• Edema, erythema, and warmth in affected areas [4]
• Elevated circulating parathyroid hormone level [5]
• High serum calcitriol
• Hypercalcemia (elevated calcium levels)
• Hyperphosphatemia (elevated phosphate levels) [2]

Other Clinical Features:

• Cutaneous and subcutaneous calcified masses, usually adjacent to large joints [8]
• Marked phenotypic heterogeneity, with some patients displaying periarticular lesions [9]

Please note that these symptoms might not be directly applicable to "normophosphatemic familial tumoral calcinosis" as this condition is not mentioned in the search results. If you could provide more context or clarify what you mean by "normophosphatemic familial tumoral calcinosis", I would be happy to try and assist further.

References: [2] - Context result 2 [4] - Context result 4 [5] - Context result 5 [8] - Context result 8 [9] - Context result 9

Based on the provided context, it appears that there are limited resources available for normophosphatemic familial tumoral calcinosis (NFTHC). However, I can provide some general information on diagnostic tests that may be relevant to this condition.

Diagnostic tests for NFTHC are not well-established and may vary depending on the individual case. However, based on the context provided, it seems that genetic analysis is a crucial step in diagnosing this disorder.

• Genetic Analysis: Genetic testing can help identify the underlying cause of NFTHC. This may involve analyzing DNA samples from affected individuals to look for mutations or variations in specific genes (e.g., [8][9]). Genetic analysis can provide a molecular diagnosis of NFTHC and is recommended for individuals with a personal and/or family history of this disorder ([6][8]).
• Blood Tests: Blood tests may be conducted to evaluate the levels of certain biomarkers, such as phosphate, calcium, and parathyroid hormone (PTH). However, these tests are more relevant to hyperphosphatemic familial tumoral calcinosis (HFTC) rather than NFTHC ([1][3][5]).
• Imaging Studies: Imaging studies, such as X-rays or CT scans, may be used to visualize the calcified masses and assess their extent. However, these tests are more relevant to HFTC rather than NFTHC ([4][7]).

It's essential to note that diagnostic tests for NFTHC are not well-established, and further research is needed to develop specific diagnostic criteria for this condition.

References:

[1] MS Ramnitz (2018) - Evaluation of phosphorus and calcium metabolism including blood phosphorus, blood creatinine, blood calcium, parathyroid hormone, 1,25D, 25...

[3] Feb 1, 2018 - Evaluation of phosphorus and calcium metabolism including blood phosphorus, blood creatinine, blood calcium, parathyroid hormone, 1,25D, 25...

[4] Aug 12, 2022 - Some people choose to use preimplantation genetic diagnosis (PGD) to identify embryos that don't carry the mutated gene.

[6] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure...

[7] by AM Boyce · 2020 · Cited by 57 — Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling disorder of fibroblast growth factor 23 (FGF23) deficiency or resistance.

[8] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure...

[9] FTC is a severe metabolic disorder characterised by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues.

Effective Drug Treatments for Normophosphatemic Familial Tumoral Calcinosis (HFTC)

Normophosphatemic familial tumoral calcinosis (HFTC) is a rare condition characterized by an increase in phosphate levels in the blood. While surgical management is often necessary, medical treatment can also play a crucial role in managing this condition.

Topical Sodium Metabisulphite and Oral Acetazolamide

According to recent studies [2], monotherapies with topical 25% sodium metabisulphite or oral acetazolamide have been found to be effective treatment strategies for HFTC. These medications can help slow down the progression of disability caused by calcifications.

Phosphate Binders and Carbonic Anhydrase Inhibitors

Medical management with phosphate binders, a carbonic anhydrase inhibitor (such as acetazolamide), in addition to limiting phosphorus intake is the mainstay of treatment for HFTC [6]. This approach can help control phosphate levels and prevent further calcifications.

Combination Therapy

A study published in 2024 [7] found that combining oral phosphorus-lowering drugs (acetazolamide) with complete surgical excision resulted in good outcomes, with no recurrence of the condition. This suggests that a combination of medical and surgical management may be an effective approach for treating HFTC.

References:

• [2] Anilkumar A (2024): Monotherapies with topical 25% sodium metabisulphite or oral acetazolamide are effective treatment strategies for HFTC.
• [6] Medical management with phosphate binders, a carbonic anhydrase inhibitor, in addition to limiting phosphorus intake is the mainstay of treatment for HFTC.
• [7] By DT Clar (2024): Combination therapy with oral phosphorus-lowering drugs and surgical excision resulted in good outcomes for HFTC patients.

Based on the provided context, it appears that differential diagnosis for normophosphatemic familial tumoral calcinosis (NFTC) is not explicitly mentioned in the search results. However, we can infer some related conditions that may be considered in the differential diagnosis.

• Soft tissue chondroma: This condition occurs in the middle-aged group with a male predominance and presents as calcified masses in soft tissues [9]. While it's not directly related to NFTC, its presentation might be confused with NFTC.
• Familial tumoral calcinosis (FTC): Although FTC is a different condition from NFTC, its characteristics of progressive deposition of calcified masses in cutaneous and subcutaneous tissues [2-4] might lead to confusion in differential diagnosis.

It's essential to note that the search results do not provide specific information on the differential diagnosis for NFTC. A detailed clinical evaluation and serological correlation are recommended to rule out other conditions [9].

References: [9] Nov 16, 2023 — Clinical and serological correlation is recommended. Differential diagnosis. Soft tissue chondroma: Occurs in middle age group with male predominance...