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inherited pseudoxanthoma elasticum - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited pseudoxanthoma elasticum

MONDO:0100091

Also known as:inherited Gronblad Strandberg syndromeinherited PXE

Overview

An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.

OnsetADULT, MIDDLE_AGE, JUVENILE

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.

No HPO annotations are available for this condition.

Age of onset: adulthood, middle age, adolescence.

GeneReviews

Clinical Guidance

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals can present as early as age five years with papules in the skin and/or between ages ten and 30 years with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Manifestations of other vascular involvement include gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, and renovascular hypertension, especially at an unexpectedly young age. Table 2. Select Features of Pseudoxanthoma Elasticum (PXE)

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

Formal diagnostic criteria for pseudoxanthoma elasticum (PXE) have been established .

Suggestive Findings

PXE should be suspected in individuals with the following clinical findings and family history.

Clinical findings

• Skin

Papules (darker than the skin color), usually seen on the lateral aspect of the neck or the flexural creases, such as the antecubital fossae, axillae, groin, or popliteal fossae

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 inherited pseudoxanthoma elasticum. 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 pseudoxanthoma elasticum (PXE), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Pseudoxanthoma Elasticum (PXE)

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with Pseudoxanthoma Elasticum (PXE)

System/Concern

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.

No clinical trials have been registered for inherited pseudoxanthoma elasticum.

24 publications have been identified in PubMed for inherited pseudoxanthoma elasticum. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (25%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Research summaries	8	33%

Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:9643

Questions for Your Care Team

→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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Feature	% of Personswith Feature	Comment
Skin lesions	100%	In advanced stages, skin can become lax redundant; sometimes reconstructive surgery is necessary.
Retinal involvement	100%	Subretinal neovascularization w/hemorrhage can cause significant visual impairment.
Vascular (arterialarrowing)	60%	Can cause claudication, small strokes, intestinal angina, renovascular hypertension, angina /or myocardial infarction
GI bleeding	10%	Most commonly in the upper GI tract Based on Skin. Skin lesions are generally the first sign and are present between the first and second decade of life, but are often not recognized as a sign of PXE. The primary skin lesion is a papule that is somewhat darker than the person's natural skin tone, i.

GeneReviews

Differential Diagnosis

Hereditary Disorders Table 3. Genes of Interest in the Differential Diagnosis of Pseudoxanthoma Elasticum (PXE)

Gene(s)	Disorder	MOI	Clinical Features Overlapping w/PXE	Differentiating Features
PYCR1	Cutis laxa	ARAD	Loose sagging skin mimicking PXE; no discrete papules or plaques	Skin lesions appear over the entire body; in PXE they are limited to the flexor areas.
ENPP1	Generalized arterial calcification of infancy (GACI)	AR	Severe arteriopathy; Children w/GACI may also develop the typical cutaneous ocular phenotype of PXE.1	GACI is very severe in children; PXE is very mild often not apparent in childhood. FGF23 GALNT3 KL
Hyperphosphatemic familial tumoral calcinosis	AR	Angioid streaks in the retina2	Skin lesions are present in PXE.	—
GGCX	PXE-like disorder w/multiple coagulation factor deficiency (OMIM 610842)	AR	Cutis laxa-like skin changes w/histolopathologic changes of PXE deficiency of vitamin K-dependent clotting factors	No issues w/clotting in PXE HBB
Beta-thalassemia	AR	PXE-like phenotype (skin, eye [angioid streaks in the retina2], cardiovascular)	Although similar, the angioid streaks are not concurrent w/skin lesions.	—
HBB	Sickle thalassemia (See Sickle Cell Disease.)	AR	Angioid streaks in the retina2	Although similar, the angioid streaks are not concurrent w/skin lesions.
LEMD3	Buschke-Ollendorf syndrome (BOS) (OMIM 166700)	AD	Osteopoikilosis assoc w/cutaneous papules w/accumulation of elastin in dermis	On skin biopsy, PXE does not have the same extent of abnormal collagen fibers near the calcified elastic fibers.; The skin lesions in BOS do not calcify histopathologically.; No osteopoikilosis in PXE PDB4 SQSTM1 TNFRSF11A TNFRSF11B
ZNF687	Paget disease of bone (OMIM PS167250)	ADAR	Angioid streaks in the retina2	No skin lesions in Paget disease of bone AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance 1. 2.

Source: GeneReviews — "Pseudoxanthoma Elasticum"

System/Concern	Evaluation	Comment
Skin	Complete skin exam w/biopsy (if not done previously) by dermatologist	To establish a baseline
Eye	Complete exam by retinal specialist incl best corrected visual acuity, Amsler grid, OCT,1 retinal exam for neovascularization macular atrophy	Early recognition of choroidal neovascularization assoc w/angioid streaks allows prompt treatment w/anti-angiogenesis drugs appropriate surveillance.
Reduced vision	Consultation w/agencies for the visually impaired1	Use of low vision aids2
Gastrointestinal (bleeding, angina)	Obtain past medical history medical records for findings consistent w/these potential complications	Referral to gastroenterologist Vascular
/or arm muscles	Obtain past medical history medical records for findings consistent w/these potential vascular complications	Referral to vascular clinic Stroke
Cardiovascular assessment	Referral to cardiologist for baseline exam	Cardiovascular issues (if present) may be exacerbated by PXE.
Other	Consultation w/clinical geneticist /or genetic counselor	OCT = optical coherence tomography In the US, publicly funded agencies at the state level provide services for the blind or those with progressive eye disorders; services include vocational training, mobility training, and skills for independent living.
Treatment of Manifestations in Individuals with Pseudoxanthoma Elasticum (PXE) System/Concern	Treatment	Considerations/Other
Skin	Reconstructive surgery1	Reconstructive surgery may be indicated to improve skin changes of the face, neck, axilla, groin that are causing infection inflammation.
Eye	Current treatment for macular neovascularization, incl intravitreal injection of anti-angiogenic drugs2	Consult a retinal specialist immediately for any distortion in vision or in visual acuity.
Gastrointestinal	Surgical intervention may be indicated for Gl bleeding.3	Avoid use of aspirin NSAIDs to risk of GI bleeding. Vascular
/or arm muscles	Per treating vascular clinic/surgeon4	—
Stroke	Per treating stroke clinic/neurologist	Renovascular
hypertension	Per treating nephrologist4	Cardiovascular complications
(angina, MI)	Mgmt of angina /or prior MI per treating cardiologist/cardiovascular surgeon5	GI = gastrointestinal; MI = myocardial infarction; NSAIDs = nonsteroidal anti-inflammatory drugs 1. As directed by a dermatologist or plastic surgeon 2. , 3. Bleeding may be difficult to control without surgery . 4.

Kisho

inherited pseudoxanthoma elasticum

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

inherited pseudoxanthoma elasticum

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications