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familial tumoral calcinosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial tumoral calcinosis

MONDO:0018891

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Overview

Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Subcutaneous nodule, Bone pain, Periarticular subcutaneous nodules, and Calcification of muscles; and common findings: Skin rash, Erythema, and Hyperostosis. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Excessive sweating (hyperhidrosis), Skin rash, Hypopigmented skin patches

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Hyperphosphatemic familial tumoral calcinosis (HFTC) should be suspected in individuals with the following clinical, laboratory, and/or imaging findings.

Clinical Findings

Tumoral calcinosis or ectopic calcifications are typically seen in periarticular soft tissues exposed to repetitive trauma or prolonged pressure, such as the hips, elbows, and shoulders; they can also be observed in other locations ranging from the eyelid to the submucosa of the large intestines . Hyperostosis. Some affected individuals experience transient but recurrent episodes of pain in the long bones, typically the tibia, associated with erythema, edema, and warmth of the overlying skin .

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial tumoral calcinosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hyperphosphatemic familial tumoral calcinosis (HFTC), the following evaluations are recommended if not done at the time of diagnosis:

Physical examination with particular attention to:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

No specific guidelines address the issue of surveillance in HFTC. The frequency of monitoring depends on clinical findings and medical treatment, as there are no data to support an appropriate monitoring interval. Tumoral calcinosis. When initiating medical therapy the following should be monitored regularly:

Blood phosphorus to help manage medication doses

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

25 publications have been identified in PubMed for familial tumoral calcinosis. Research spans Case Report / Case Series (72%), Basic Science / Preclinical (16%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	18	72%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:53715

GARD

Genetic and Rare Diseases Info Center

GARD:10877

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Differential Diagnosis

Table 2. Genetic Disorders to Consider in the Differential Diagnosis of Hyperphosphatemic Familial Tumoral Calcinosis

Disorder	Gene(s)	MOI	Features of This Disorder
UROD	AD	Dystrophic calcification in areas of pseudoscleroderma	—
Ulcerated areas at pseudoscleroderma sites in some	Normal blood phosphorus	Blistering skin fragility w/sun exposure; Hypertrichosis/ hyperpigmentation; Pseudoscleroderma; Increased urinary excretion of uroporphyrin Normophosphatemicfamilial tumoralcalcinosis(OMIM 610455)	—
SAMD9	AR	Skin/subcutaneous calcinosis	Normal blood phosphorus; Normal renal intestinal reabsorption of phosphorus
GNAS	See footnote 1.	Elevated blood phosphorus; Subcutaneous ossifications	Elevated blood parathyroid hormone due to end-organ resistance; Low blood calcium, obesity
GNAS	See footnote 1.	Subcutaneous ossifications	Normal blood phosphorus, parathyroid hormone, calcium
GNAS	See footnote 1.	Subcutaneous ossifications	Normal blood phosphorus, parathyroid hormone, calcium
ACVR1	AD	Subcutaneous ossifications that can impair joint mobility	Normal blood phosphorus
ENPP1	AR	Extravascular periarticular calcifications	—
May have angioid streaks of the retina	Normal or low blood phosphorus (some develop hypophosphatemic rickets after infancy)	Extensive medium- large-artery calcification in infancy resulting in cardiovascular findings; May have yellow papules in flexural body areas; Hearing loss Cole disease(OMIM 615522)	—
ENPP1	AD	Skin/subcutaneous calcinosis	Normal blood phosphorus

Source: GeneReviews — "Hyperphosphatemic Familial Tumoral Calcinosis"

Kisho

familial tumoral calcinosis

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

familial tumoral calcinosis

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications